Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Macf1'

15664

Institutional Source

Beutler Lab

Gene Symbol

Macf1

Ensembl Gene

ENSMUSG00000028649

Gene Name

microtubule-actin crosslinking factor 1

Synonyms

trabeculin alpha, Aclp7, Acf7

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123243426-123581331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123275895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 6222 (H6222Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082108] [ENSMUST00000084301] [ENSMUST00000097897] [ENSMUST00000106213] [ENSMUST00000106220] [ENSMUST00000106224] [ENSMUST00000134458] [ENSMUST00000151346] [ENSMUST00000140596]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000082108
AA Change: H4197Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080755
Gene: ENSMUSG00000028649
AA Change: H4197Q

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
CH	80	179	5.63e-28	SMART
CH	196	293	7.49e-24	SMART
SPEC	317	420	4.11e0	SMART
SPEC	583	680	4.32e-9	SMART
SPEC	683	783	5.75e-5	SMART
Blast:SPEC	790	955	4e-82	BLAST
coiled coil region	1046	1067	N/A	INTRINSIC
SPEC	1278	1407	2.35e0	SMART
SPEC	1425	1533	1.12e-7	SMART
SPEC	1550	1658	3.94e-3	SMART
SPEC	1818	1928	4.03e-9	SMART
SPEC	1935	2041	1.75e-9	SMART
SPEC	2048	2150	5.57e-3	SMART
SPEC	2157	2256	4.56e0	SMART
SPEC	2263	2394	3.46e-1	SMART
SPEC	2401	2506	1.29e-7	SMART
SPEC	2513	2617	1.19e-2	SMART
SPEC	2624	2727	2.7e-1	SMART
SPEC	2734	2837	4.99e-14	SMART
SPEC	2844	2944	1.9e-5	SMART
SPEC	2951	3057	2.83e0	SMART
SPEC	3060	3162	2.14e-4	SMART
SPEC	3169	3273	3.01e-8	SMART
SPEC	3280	3382	4.48e-16	SMART
SPEC	3389	3491	1.26e-10	SMART
SPEC	3498	3600	2.26e-3	SMART
SPEC	3607	3709	4.29e-4	SMART
SPEC	3716	3817	9.99e-14	SMART
SPEC	3824	3930	5.79e-2	SMART
SPEC	3937	4039	6.59e-14	SMART
SPEC	4046	4149	3.7e-17	SMART
SPEC	4156	4258	1.16e-23	SMART
SPEC	4265	4368	3.58e-15	SMART
SPEC	4375	4477	2.61e-17	SMART
SPEC	4484	4587	9.38e-19	SMART
SPEC	4594	4695	2.29e-22	SMART
SPEC	4702	4804	4.99e-14	SMART
SPEC	4811	4941	1.45e-10	SMART
EFh	4979	5007	5.08e-3	SMART
EFh	5015	5043	1.17e-2	SMART
GAS2	5054	5132	8.5e-54	SMART
low complexity region	5154	5199	N/A	INTRINSIC
low complexity region	5248	5273	N/A	INTRINSIC
low complexity region	5290	5302	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084301
AA Change: H6220Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081324
Gene: ENSMUSG00000028649
AA Change: H6220Q

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
CH	80	179	2.8e-30	SMART
CH	196	293	3.6e-26	SMART
SPEC	317	420	2.6e-2	SMART
SPEC	583	680	2.7e-11	SMART
SPEC	683	783	3.6e-7	SMART
Blast:SPEC	790	955	5e-82	BLAST
coiled coil region	1046	1067	N/A	INTRINSIC
SPEC	1278	1407	1.5e-2	SMART
SPEC	1425	1533	6.9e-10	SMART
PLEC	1530	1576	5.3e-6	SMART
PLEC	1577	1614	1.2e-2	SMART
PLEC	1616	1653	8.7e-2	SMART
PLEC	1654	1691	8.3e-2	SMART
PLEC	1695	1729	1.3e-1	SMART
PLEC	1731	1767	1.4e-4	SMART
PLEC	1768	1805	2e-12	SMART
PLEC	1808	1843	5.2e-4	SMART
PLEC	1844	1881	4e-2	SMART
PLEC	1884	1919	1.9e0	SMART
low complexity region	1986	1997	N/A	INTRINSIC
low complexity region	2219	2228	N/A	INTRINSIC
PLEC	2275	2312	4.5e-6	SMART
PLEC	2347	2388	1.7e-7	SMART
PLEC	2389	2426	1.2e-5	SMART
PLEC	2447	2484	6.3e-3	SMART
PLEC	2485	2522	2.1e-4	SMART
PLEC	2523	2561	1.5e-1	SMART
PLEC	2586	2633	3.1e-1	SMART
PLEC	2671	2708	6.5e-10	SMART
PLEC	2709	2746	2.3e-3	SMART
low complexity region	2940	2950	N/A	INTRINSIC
coiled coil region	3355	3388	N/A	INTRINSIC
low complexity region	3419	3429	N/A	INTRINSIC
low complexity region	3555	3576	N/A	INTRINSIC
SPEC	3577	3683	7.1e-3	SMART
SPEC	3841	3951	2.6e-11	SMART
SPEC	3958	4064	1.1e-11	SMART
SPEC	4071	4173	3.6e-5	SMART
SPEC	4180	4279	2.9e-2	SMART
SPEC	4286	4417	2.2e-3	SMART
SPEC	4424	4529	8.2e-10	SMART
SPEC	4536	4640	7.4e-5	SMART
SPEC	4647	4750	1.7e-3	SMART
SPEC	4757	4860	3.2e-16	SMART
SPEC	4867	4967	1.2e-7	SMART
SPEC	4974	5080	1.8e-2	SMART
SPEC	5083	5185	1.3e-6	SMART
SPEC	5192	5296	2e-10	SMART
SPEC	5303	5405	2.8e-18	SMART
SPEC	5412	5514	7.7e-13	SMART
SPEC	5521	5623	1.5e-5	SMART
SPEC	5630	5732	2.7e-6	SMART
SPEC	5739	5840	6.1e-16	SMART
SPEC	5847	5953	3.6e-4	SMART
SPEC	5960	6062	4.1e-16	SMART
SPEC	6069	6172	2.4e-19	SMART
SPEC	6179	6281	7.6e-26	SMART
SPEC	6288	6391	2.2e-17	SMART
SPEC	6398	6500	1.6e-19	SMART
SPEC	6507	6610	5.7e-21	SMART
SPEC	6617	6718	1.5e-24	SMART
SPEC	6725	6827	3.2e-16	SMART
SPEC	6834	6964	9.4e-13	SMART
EFh	7002	7030	2.4e-5	SMART
EFh	7038	7066	5.8e-5	SMART
GAS2	7077	7155	5.5e-56	SMART
low complexity region	7177	7222	N/A	INTRINSIC
low complexity region	7271	7296	N/A	INTRINSIC
low complexity region	7313	7325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097897
AA Change: H6224Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095507
Gene: ENSMUSG00000028649
AA Change: H6224Q

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
CH	80	179	5.63e-28	SMART
CH	196	293	7.49e-24	SMART
SPEC	317	420	4.11e0	SMART
SPEC	583	680	4.32e-9	SMART
SPEC	683	783	5.75e-5	SMART
Blast:SPEC	790	955	4e-82	BLAST
coiled coil region	1046	1067	N/A	INTRINSIC
SPEC	1278	1407	2.35e0	SMART
SPEC	1425	1533	1.12e-7	SMART
PLEC	1530	1576	8.58e-4	SMART
PLEC	1577	1614	1.9e0	SMART
PLEC	1616	1653	1.38e1	SMART
PLEC	1654	1691	1.3e1	SMART
PLEC	1695	1729	2.1e1	SMART
PLEC	1731	1767	2.23e-2	SMART
PLEC	1768	1805	3.32e-10	SMART
PLEC	1808	1843	8.32e-2	SMART
PLEC	1844	1881	6.42e0	SMART
PLEC	1884	1919	3e2	SMART
low complexity region	1986	1997	N/A	INTRINSIC
low complexity region	2219	2228	N/A	INTRINSIC
PLEC	2275	2312	6.97e-4	SMART
PLEC	2347	2388	2.68e-5	SMART
PLEC	2389	2426	1.84e-3	SMART
PLEC	2447	2484	1.01e0	SMART
PLEC	2485	2522	3.38e-2	SMART
PLEC	2523	2561	2.39e1	SMART
PLEC	2586	2633	4.99e1	SMART
PLEC	2671	2708	1.05e-7	SMART
PLEC	2709	2746	3.57e-1	SMART
low complexity region	2940	2950	N/A	INTRINSIC
coiled coil region	3355	3388	N/A	INTRINSIC
low complexity region	3419	3429	N/A	INTRINSIC
low complexity region	3555	3576	N/A	INTRINSIC
SPEC	3577	3685	3.94e-3	SMART
SPEC	3845	3955	4.03e-9	SMART
SPEC	3962	4068	1.75e-9	SMART
SPEC	4075	4177	5.57e-3	SMART
SPEC	4184	4283	4.56e0	SMART
SPEC	4290	4421	3.46e-1	SMART
SPEC	4428	4533	1.29e-7	SMART
SPEC	4540	4644	1.19e-2	SMART
SPEC	4651	4754	2.7e-1	SMART
SPEC	4761	4864	4.99e-14	SMART
SPEC	4871	4971	1.9e-5	SMART
SPEC	4978	5084	2.83e0	SMART
SPEC	5087	5189	2.14e-4	SMART
SPEC	5196	5300	3.01e-8	SMART
SPEC	5307	5409	4.48e-16	SMART
SPEC	5416	5518	1.26e-10	SMART
SPEC	5525	5627	2.26e-3	SMART
SPEC	5634	5736	4.29e-4	SMART
SPEC	5743	5844	9.99e-14	SMART
SPEC	5851	5957	5.79e-2	SMART
SPEC	5964	6066	6.59e-14	SMART
SPEC	6073	6176	3.7e-17	SMART
SPEC	6183	6285	1.16e-23	SMART
SPEC	6292	6395	3.58e-15	SMART
SPEC	6402	6504	2.61e-17	SMART
SPEC	6511	6614	9.38e-19	SMART
SPEC	6621	6722	2.29e-22	SMART
SPEC	6729	6831	4.99e-14	SMART
SPEC	6838	6968	1.45e-10	SMART
EFh	7006	7034	5.08e-3	SMART
EFh	7042	7070	1.17e-2	SMART
GAS2	7081	7159	8.5e-54	SMART
low complexity region	7181	7226	N/A	INTRINSIC
low complexity region	7275	7300	N/A	INTRINSIC
low complexity region	7317	7329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106213
AA Change: H4768Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101819
Gene: ENSMUSG00000028649
AA Change: H4768Q

Domain	Start	End	E-Value	Type
PLEC	12	49	1.9e0	SMART
PLEC	51	88	1.38e1	SMART
PLEC	89	126	1.3e1	SMART
PLEC	130	164	2.1e1	SMART
PLEC	166	202	2.23e-2	SMART
PLEC	203	240	3.32e-10	SMART
PLEC	243	278	8.32e-2	SMART
PLEC	279	316	6.42e0	SMART
PLEC	319	354	3e2	SMART
low complexity region	421	432	N/A	INTRINSIC
low complexity region	654	663	N/A	INTRINSIC
PLEC	710	747	6.97e-4	SMART
PLEC	782	823	2.68e-5	SMART
PLEC	824	861	1.84e-3	SMART
PLEC	882	919	1.01e0	SMART
PLEC	920	957	3.38e-2	SMART
PLEC	958	996	2.39e1	SMART
PLEC	1021	1068	4.99e1	SMART
PLEC	1106	1143	1.05e-7	SMART
PLEC	1144	1181	3.57e-1	SMART
low complexity region	1375	1385	N/A	INTRINSIC
coiled coil region	1790	1823	N/A	INTRINSIC
low complexity region	1854	1864	N/A	INTRINSIC
low complexity region	1990	2011	N/A	INTRINSIC
SPEC	2012	2120	3.94e-3	SMART
SPEC	2280	2390	4.03e-9	SMART
SPEC	2397	2503	1.75e-9	SMART
SPEC	2510	2612	5.57e-3	SMART
SPEC	2619	2718	4.56e0	SMART
SPEC	2725	2856	3.46e-1	SMART
SPEC	2863	2968	1.29e-7	SMART
SPEC	2975	3079	1.19e-2	SMART
SPEC	3086	3189	2.7e-1	SMART
SPEC	3196	3299	4.99e-14	SMART
SPEC	3306	3406	1.9e-5	SMART
SPEC	3413	3519	2.83e0	SMART
SPEC	3522	3624	2.14e-4	SMART
SPEC	3631	3735	3.01e-8	SMART
SPEC	3742	3844	4.48e-16	SMART
SPEC	3851	3953	4.15e-11	SMART
SPEC	3960	4062	7.07e-5	SMART
SPEC	4069	4171	2.26e-3	SMART
SPEC	4178	4280	4.29e-4	SMART
SPEC	4287	4388	9.99e-14	SMART
SPEC	4395	4501	5.79e-2	SMART
SPEC	4508	4610	6.59e-14	SMART
SPEC	4617	4720	3.7e-17	SMART
SPEC	4727	4829	1.16e-23	SMART
SPEC	4836	4939	3.58e-15	SMART
SPEC	4946	5048	2.61e-17	SMART
SPEC	5055	5158	9.38e-19	SMART
SPEC	5165	5266	2.29e-22	SMART
SPEC	5273	5375	4.99e-14	SMART
SPEC	5382	5512	1.45e-10	SMART
EFh	5546	5574	5.08e-3	SMART
EFh	5582	5610	1.17e-2	SMART
GAS2	5621	5699	8.5e-54	SMART
low complexity region	5721	5766	N/A	INTRINSIC
low complexity region	5815	5840	N/A	INTRINSIC
low complexity region	5857	5869	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106220
AA Change: H4347Q

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101827
Gene: ENSMUSG00000028649
AA Change: H4347Q

Domain	Start	End	E-Value	Type
CH	347	444	7.49e-24	SMART
SPEC	468	571	4.11e0	SMART
SPEC	734	831	4.32e-9	SMART
SPEC	834	934	5.75e-5	SMART
Blast:SPEC	941	1106	5e-82	BLAST
coiled coil region	1197	1218	N/A	INTRINSIC
SPEC	1429	1558	2.35e0	SMART
SPEC	1576	1684	1.12e-7	SMART
SPEC	1701	1809	1.85e-1	SMART
SPEC	1968	2078	4.03e-9	SMART
SPEC	2085	2191	1.75e-9	SMART
SPEC	2198	2300	5.57e-3	SMART
SPEC	2307	2406	4.56e0	SMART
SPEC	2413	2544	3.46e-1	SMART
SPEC	2551	2656	1.29e-7	SMART
SPEC	2663	2767	1.19e-2	SMART
SPEC	2774	2877	2.7e-1	SMART
SPEC	2884	2987	4.99e-14	SMART
SPEC	2994	3094	1.9e-5	SMART
SPEC	3101	3207	2.83e0	SMART
SPEC	3210	3312	2.14e-4	SMART
SPEC	3319	3423	3.01e-8	SMART
SPEC	3430	3532	4.48e-16	SMART
SPEC	3539	3641	1.26e-10	SMART
SPEC	3648	3750	2.26e-3	SMART
SPEC	3757	3859	4.29e-4	SMART
SPEC	3866	3967	9.99e-14	SMART
SPEC	3974	4080	5.79e-2	SMART
SPEC	4087	4189	6.59e-14	SMART
SPEC	4196	4299	3.7e-17	SMART
SPEC	4306	4408	1.16e-23	SMART
SPEC	4415	4518	3.58e-15	SMART
SPEC	4525	4627	2.61e-17	SMART
SPEC	4634	4737	9.38e-19	SMART
SPEC	4744	4845	2.29e-22	SMART
SPEC	4852	4954	4.99e-14	SMART
SPEC	4961	5091	1.45e-10	SMART
EFh	5129	5157	5.08e-3	SMART
EFh	5165	5193	1.17e-2	SMART
GAS2	5204	5282	1.59e-53	SMART
low complexity region	5304	5349	N/A	INTRINSIC
low complexity region	5398	5423	N/A	INTRINSIC
low complexity region	5440	5452	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106224
AA Change: H6222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101831
Gene: ENSMUSG00000028649
AA Change: H6222Q

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
CH	80	179	5.63e-28	SMART
CH	196	293	7.49e-24	SMART
SPEC	317	420	4.11e0	SMART
SPEC	583	680	4.32e-9	SMART
SPEC	683	783	5.75e-5	SMART
Blast:SPEC	790	955	5e-82	BLAST
coiled coil region	1046	1067	N/A	INTRINSIC
SPEC	1278	1407	2.35e0	SMART
SPEC	1425	1533	1.12e-7	SMART
PLEC	1530	1576	8.58e-4	SMART
PLEC	1577	1614	1.9e0	SMART
PLEC	1616	1653	1.38e1	SMART
PLEC	1654	1691	1.3e1	SMART
PLEC	1695	1729	2.1e1	SMART
PLEC	1731	1767	2.23e-2	SMART
PLEC	1768	1805	3.32e-10	SMART
PLEC	1808	1843	8.32e-2	SMART
PLEC	1844	1881	6.42e0	SMART
PLEC	1884	1919	3e2	SMART
low complexity region	1986	1997	N/A	INTRINSIC
low complexity region	2219	2228	N/A	INTRINSIC
PLEC	2275	2312	6.97e-4	SMART
PLEC	2347	2388	2.68e-5	SMART
PLEC	2389	2426	1.84e-3	SMART
PLEC	2447	2484	1.01e0	SMART
PLEC	2485	2522	3.38e-2	SMART
PLEC	2523	2561	2.39e1	SMART
PLEC	2586	2633	4.99e1	SMART
PLEC	2671	2708	1.05e-7	SMART
PLEC	2709	2746	3.57e-1	SMART
low complexity region	2940	2950	N/A	INTRINSIC
coiled coil region	3355	3388	N/A	INTRINSIC
low complexity region	3419	3429	N/A	INTRINSIC
low complexity region	3555	3576	N/A	INTRINSIC
SPEC	3577	3685	3.94e-3	SMART
SPEC	3845	3955	4.03e-9	SMART
SPEC	3962	4068	1.75e-9	SMART
SPEC	4075	4177	5.57e-3	SMART
SPEC	4184	4283	4.56e0	SMART
SPEC	4290	4421	3.46e-1	SMART
SPEC	4428	4533	1.29e-7	SMART
SPEC	4540	4642	9.34e-2	SMART
SPEC	4649	4752	2.7e-1	SMART
SPEC	4759	4862	4.99e-14	SMART
SPEC	4869	4969	1.9e-5	SMART
SPEC	4976	5082	2.83e0	SMART
SPEC	5085	5187	2.14e-4	SMART
SPEC	5194	5298	3.01e-8	SMART
SPEC	5305	5407	4.48e-16	SMART
SPEC	5414	5516	1.26e-10	SMART
SPEC	5523	5625	2.26e-3	SMART
SPEC	5632	5734	4.29e-4	SMART
SPEC	5741	5842	9.99e-14	SMART
SPEC	5849	5955	5.79e-2	SMART
SPEC	5962	6064	6.59e-14	SMART
SPEC	6071	6174	3.7e-17	SMART
SPEC	6181	6283	1.16e-23	SMART
SPEC	6290	6393	3.58e-15	SMART
SPEC	6400	6502	2.61e-17	SMART
SPEC	6509	6612	9.38e-19	SMART
SPEC	6619	6720	2.29e-22	SMART
SPEC	6727	6829	4.99e-14	SMART
SPEC	6836	6966	1.45e-10	SMART
EFh	7004	7032	5.08e-3	SMART
EFh	7040	7068	1.17e-2	SMART
GAS2	7079	7157	8.5e-54	SMART
low complexity region	7179	7224	N/A	INTRINSIC
low complexity region	7273	7298	N/A	INTRINSIC
low complexity region	7315	7327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134458
AA Change: H3308Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119885
Gene: ENSMUSG00000028649
AA Change: H3308Q

Domain	Start	End	E-Value	Type
PDB:3R6N\|B	3	168	5e-37	PDB
coiled coil region	178	199	N/A	INTRINSIC
SPEC	410	539	2.35e0	SMART
SPEC	557	665	1.12e-7	SMART
SPEC	682	790	3.94e-3	SMART
SPEC	950	1060	4.03e-9	SMART
SPEC	1067	1173	1.75e-9	SMART
SPEC	1180	1282	5.57e-3	SMART
SPEC	1289	1388	4.56e0	SMART
SPEC	1395	1505	3.18e-1	SMART
SPEC	1512	1617	1.29e-7	SMART
SPEC	1624	1728	1.19e-2	SMART
SPEC	1735	1838	2.7e-1	SMART
SPEC	1845	1948	4.99e-14	SMART
SPEC	1955	2055	1.9e-5	SMART
SPEC	2062	2168	2.83e0	SMART
SPEC	2171	2273	2.14e-4	SMART
SPEC	2280	2384	3.01e-8	SMART
SPEC	2391	2493	4.48e-16	SMART
SPEC	2500	2602	1.26e-10	SMART
SPEC	2609	2711	2.26e-3	SMART
SPEC	2718	2820	4.29e-4	SMART
SPEC	2827	2928	9.99e-14	SMART
SPEC	2935	3041	5.79e-2	SMART
SPEC	3048	3150	6.59e-14	SMART
SPEC	3157	3260	3.7e-17	SMART
SPEC	3267	3369	1.16e-23	SMART
SPEC	3376	3479	3.58e-15	SMART
SPEC	3486	3588	2.61e-17	SMART
SPEC	3595	3698	9.38e-19	SMART
SPEC	3705	3806	2.29e-22	SMART
SPEC	3813	3915	4.99e-14	SMART
SPEC	3922	4052	1.45e-10	SMART
EFh	4086	4114	5.08e-3	SMART
EFh	4122	4150	1.17e-2	SMART
GAS2	4161	4233	2.28e-54	SMART
low complexity region	4255	4300	N/A	INTRINSIC
low complexity region	4349	4374	N/A	INTRINSIC
low complexity region	4391	4403	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151346
AA Change: H4212Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114568
Gene: ENSMUSG00000028649
AA Change: H4212Q

Domain	Start	End	E-Value	Type
CH	4	85	4.88e-14	SMART
CH	102	199	7.49e-24	SMART
SPEC	223	326	4.11e0	SMART
SPEC	489	586	4.32e-9	SMART
SPEC	589	689	5.75e-5	SMART
Blast:SPEC	696	861	3e-82	BLAST
coiled coil region	952	973	N/A	INTRINSIC
SPEC	1184	1313	2.35e0	SMART
SPEC	1331	1439	1.12e-7	SMART
SPEC	1456	1564	3.94e-3	SMART
SPEC	1724	1834	4.03e-9	SMART
SPEC	1841	1947	1.75e-9	SMART
SPEC	1954	2056	5.57e-3	SMART
SPEC	2063	2162	4.56e0	SMART
SPEC	2169	2300	3.46e-1	SMART
SPEC	2307	2412	1.29e-7	SMART
SPEC	2419	2523	1.19e-2	SMART
SPEC	2530	2633	2.7e-1	SMART
SPEC	2640	2743	4.99e-14	SMART
SPEC	2750	2850	1.9e-5	SMART
SPEC	2857	2963	2.83e0	SMART
SPEC	2966	3068	2.14e-4	SMART
SPEC	3075	3179	3.01e-8	SMART
SPEC	3186	3288	4.48e-16	SMART
SPEC	3295	3397	4.15e-11	SMART
SPEC	3404	3506	7.07e-5	SMART
SPEC	3513	3615	2.26e-3	SMART
SPEC	3622	3724	4.29e-4	SMART
SPEC	3731	3832	9.99e-14	SMART
SPEC	3839	3945	5.79e-2	SMART
SPEC	3952	4054	6.59e-14	SMART
SPEC	4061	4164	3.7e-17	SMART
SPEC	4171	4273	1.16e-23	SMART
SPEC	4280	4383	3.58e-15	SMART
SPEC	4390	4492	2.61e-17	SMART
SPEC	4499	4602	9.38e-19	SMART
SPEC	4609	4710	2.29e-22	SMART
SPEC	4717	4819	4.99e-14	SMART
SPEC	4826	4956	1.45e-10	SMART
EFh	4990	5018	5.08e-3	SMART
EFh	5026	5054	1.17e-2	SMART
GAS2	5065	5137	2.28e-54	SMART
low complexity region	5159	5204	N/A	INTRINSIC
low complexity region	5253	5278	N/A	INTRINSIC
low complexity region	5295	5307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140596

SMART Domains

Protein: ENSMUSP00000117433
Gene: ENSMUSG00000028649

Domain	Start	End	E-Value	Type
SPEC	37	138	9.99e-14	SMART
SPEC	148	254	8.41e-2	SMART
SPEC	261	363	6.59e-14	SMART

Meta Mutation Damage Score

0.4249

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality. [provided by MGI curators]

Allele List at MGI

All alleles(784) : Targeted(4) Gene trapped(780)

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Ccdc107	A	G	4: 43,495,549 (GRCm39)	T151A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Creb1	A	G	1: 64,609,307 (GRCm39)	D126G	probably damaging	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmem92	C	T	11: 94,669,778 (GRCm39)	V118I	possibly damaging	Het
Tmf1	T	C	6: 97,135,059 (GRCm39)	E985G	probably damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	probably damaging	Het

Other mutations in Macf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Macf1	APN	4	123,275,915 (GRCm39)	missense	probably damaging	0.99
IGL01293:Macf1	APN	4	123,365,104 (GRCm39)	missense	probably benign	0.00
IGL01307:Macf1	APN	4	123,276,922 (GRCm39)	missense	probably damaging	1.00
IGL01314:Macf1	APN	4	123,380,513 (GRCm39)	missense	probably damaging	1.00
IGL01321:Macf1	APN	4	123,334,567 (GRCm39)	missense	probably damaging	1.00
IGL01327:Macf1	APN	4	123,403,705 (GRCm39)	missense	probably benign	0.20
IGL01365:Macf1	APN	4	123,284,962 (GRCm39)	missense	probably damaging	1.00
IGL01465:Macf1	APN	4	123,384,514 (GRCm39)	missense	probably benign	0.00
IGL01527:Macf1	APN	4	123,386,953 (GRCm39)	missense	possibly damaging	0.93
IGL01533:Macf1	APN	4	123,367,666 (GRCm39)	missense	probably damaging	1.00
IGL01539:Macf1	APN	4	123,289,701 (GRCm39)	splice site	probably benign
IGL01543:Macf1	APN	4	123,295,250 (GRCm39)	missense	probably damaging	1.00
IGL01553:Macf1	APN	4	123,386,956 (GRCm39)	nonsense	probably null
IGL01558:Macf1	APN	4	123,346,798 (GRCm39)	missense	probably benign	0.00
IGL01633:Macf1	APN	4	123,395,964 (GRCm39)	missense	probably damaging	0.99
IGL01684:Macf1	APN	4	123,359,723 (GRCm39)	missense	probably damaging	1.00
IGL01715:Macf1	APN	4	123,284,879 (GRCm39)	missense	probably damaging	1.00
IGL01844:Macf1	APN	4	123,334,485 (GRCm39)	missense	probably benign	0.34
IGL01870:Macf1	APN	4	123,367,906 (GRCm39)	missense	probably damaging	0.99
IGL01916:Macf1	APN	4	123,335,423 (GRCm39)	missense	probably damaging	1.00
IGL01916:Macf1	APN	4	123,369,830 (GRCm39)	missense	probably damaging	1.00
IGL01923:Macf1	APN	4	123,274,237 (GRCm39)	missense	possibly damaging	0.46
IGL02017:Macf1	APN	4	123,393,724 (GRCm39)	missense	probably damaging	1.00
IGL02022:Macf1	APN	4	123,284,842 (GRCm39)	critical splice donor site	probably null
IGL02084:Macf1	APN	4	123,326,396 (GRCm39)	missense	probably benign	0.02
IGL02084:Macf1	APN	4	123,353,167 (GRCm39)	missense	probably damaging	1.00
IGL02142:Macf1	APN	4	123,365,842 (GRCm39)	missense	probably benign	0.11
IGL02151:Macf1	APN	4	123,265,559 (GRCm39)	splice site	probably benign
IGL02164:Macf1	APN	4	123,374,065 (GRCm39)	missense	probably benign	0.03
IGL02174:Macf1	APN	4	123,385,587 (GRCm39)	missense	probably damaging	1.00
IGL02229:Macf1	APN	4	123,403,619 (GRCm39)	missense	probably damaging	1.00
IGL02277:Macf1	APN	4	123,380,497 (GRCm39)	missense	probably damaging	1.00
IGL02283:Macf1	APN	4	123,365,168 (GRCm39)	missense	probably benign	0.01
IGL02314:Macf1	APN	4	123,338,630 (GRCm39)	missense	probably damaging	0.99
IGL02327:Macf1	APN	4	123,365,523 (GRCm39)	missense	probably benign	0.06
IGL02348:Macf1	APN	4	123,406,659 (GRCm39)	missense	probably damaging	1.00
IGL02441:Macf1	APN	4	123,281,029 (GRCm39)	missense	probably damaging	1.00
IGL02585:Macf1	APN	4	123,366,077 (GRCm39)	missense	probably benign	0.00
IGL02602:Macf1	APN	4	123,248,956 (GRCm39)	missense	probably damaging	1.00
IGL03204:Macf1	APN	4	123,249,070 (GRCm39)	splice site	probably benign
anakex	UTSW	4	123,302,064 (GRCm39)	missense	probably damaging	0.97
esfuerzo	UTSW	4	123,369,922 (GRCm39)	missense	probably benign	0.22
Royal_flush	UTSW	4	123,259,148 (GRCm39)	splice site	probably null
standard	UTSW	4	123,380,199 (GRCm39)	missense	probably damaging	1.00
suspension	UTSW	4	123,391,548 (GRCm39)	missense	probably damaging	1.00
voragine	UTSW	4	123,248,895 (GRCm39)	missense	probably damaging	1.00
BB010:Macf1	UTSW	4	123,303,444 (GRCm39)	missense	probably benign	0.00
BB020:Macf1	UTSW	4	123,303,444 (GRCm39)	missense	probably benign	0.00
H8562:Macf1	UTSW	4	123,359,833 (GRCm39)	missense	probably benign	0.13
IGL03052:Macf1	UTSW	4	123,281,188 (GRCm39)	missense	probably damaging	1.00
N/A - 535:Macf1	UTSW	4	123,367,601 (GRCm39)	missense	possibly damaging	0.82
PIT4576001:Macf1	UTSW	4	123,367,114 (GRCm39)	missense	probably benign	0.43
R0021:Macf1	UTSW	4	123,369,370 (GRCm39)	missense	probably damaging	1.00
R0023:Macf1	UTSW	4	123,382,107 (GRCm39)	splice site	probably benign
R0023:Macf1	UTSW	4	123,382,107 (GRCm39)	splice site	probably benign
R0066:Macf1	UTSW	4	123,325,943 (GRCm39)	nonsense	probably null
R0066:Macf1	UTSW	4	123,325,943 (GRCm39)	nonsense	probably null
R0067:Macf1	UTSW	4	123,369,041 (GRCm39)	missense	possibly damaging	0.90
R0067:Macf1	UTSW	4	123,369,041 (GRCm39)	missense	possibly damaging	0.90
R0078:Macf1	UTSW	4	123,367,661 (GRCm39)	missense	probably damaging	1.00
R0106:Macf1	UTSW	4	123,302,357 (GRCm39)	missense	probably benign	0.00
R0123:Macf1	UTSW	4	123,326,636 (GRCm39)	missense	possibly damaging	0.78
R0129:Macf1	UTSW	4	123,327,068 (GRCm39)	missense	probably damaging	1.00
R0134:Macf1	UTSW	4	123,326,636 (GRCm39)	missense	possibly damaging	0.78
R0138:Macf1	UTSW	4	123,334,540 (GRCm39)	missense	probably damaging	1.00
R0145:Macf1	UTSW	4	123,281,190 (GRCm39)	missense	probably damaging	1.00
R0195:Macf1	UTSW	4	123,328,709 (GRCm39)	missense	probably damaging	0.99
R0227:Macf1	UTSW	4	123,293,184 (GRCm39)	missense	probably benign	0.14
R0233:Macf1	UTSW	4	123,343,920 (GRCm39)	splice site	probably benign
R0254:Macf1	UTSW	4	123,326,572 (GRCm39)	missense	probably damaging	1.00
R0357:Macf1	UTSW	4	123,351,776 (GRCm39)	missense	probably damaging	1.00
R0398:Macf1	UTSW	4	123,244,810 (GRCm39)	missense	probably damaging	1.00
R0413:Macf1	UTSW	4	123,366,062 (GRCm39)	missense	probably benign
R0426:Macf1	UTSW	4	123,377,453 (GRCm39)	nonsense	probably null
R0441:Macf1	UTSW	4	123,259,148 (GRCm39)	splice site	probably null
R0453:Macf1	UTSW	4	123,338,737 (GRCm39)	missense	probably benign	0.35
R0481:Macf1	UTSW	4	123,377,815 (GRCm39)	splice site	probably null
R0502:Macf1	UTSW	4	123,363,608 (GRCm39)	missense	probably damaging	1.00
R0503:Macf1	UTSW	4	123,363,608 (GRCm39)	missense	probably damaging	1.00
R0519:Macf1	UTSW	4	123,365,113 (GRCm39)	missense	probably benign	0.03
R0543:Macf1	UTSW	4	123,270,171 (GRCm39)	missense	probably damaging	1.00
R0621:Macf1	UTSW	4	123,274,327 (GRCm39)	missense	probably damaging	1.00
R0631:Macf1	UTSW	4	123,349,317 (GRCm39)	nonsense	probably null
R0720:Macf1	UTSW	4	123,326,718 (GRCm39)	missense	probably damaging	1.00
R0730:Macf1	UTSW	4	123,276,323 (GRCm39)	splice site	probably benign
R0755:Macf1	UTSW	4	123,263,719 (GRCm39)	missense	probably damaging	0.99
R0836:Macf1	UTSW	4	123,388,675 (GRCm39)	critical splice donor site	probably null
R0847:Macf1	UTSW	4	123,293,159 (GRCm39)	missense	probably benign	0.03
R0850:Macf1	UTSW	4	123,368,195 (GRCm39)	missense	probably benign
R0924:Macf1	UTSW	4	123,279,271 (GRCm39)	missense	probably damaging	1.00
R0973:Macf1	UTSW	4	123,369,793 (GRCm39)	missense	possibly damaging	0.76
R1025:Macf1	UTSW	4	123,367,609 (GRCm39)	missense	probably damaging	1.00
R1076:Macf1	UTSW	4	123,279,391 (GRCm39)	missense	probably damaging	1.00
R1253:Macf1	UTSW	4	123,351,760 (GRCm39)	missense	probably damaging	1.00
R1301:Macf1	UTSW	4	123,380,451 (GRCm39)	splice site	probably benign
R1337:Macf1	UTSW	4	123,370,068 (GRCm39)	missense	probably benign	0.34
R1344:Macf1	UTSW	4	123,327,246 (GRCm39)	missense	probably damaging	0.99
R1404:Macf1	UTSW	4	123,270,309 (GRCm39)	missense	probably damaging	1.00
R1404:Macf1	UTSW	4	123,270,309 (GRCm39)	missense	probably damaging	1.00
R1443:Macf1	UTSW	4	123,404,800 (GRCm39)	missense	probably damaging	1.00
R1452:Macf1	UTSW	4	123,387,791 (GRCm39)	missense	probably benign
R1465:Macf1	UTSW	4	123,386,947 (GRCm39)	missense	probably damaging	0.98
R1465:Macf1	UTSW	4	123,386,947 (GRCm39)	missense	probably damaging	0.98
R1483:Macf1	UTSW	4	123,404,770 (GRCm39)	missense	probably damaging	1.00
R1509:Macf1	UTSW	4	123,577,802 (GRCm39)	missense	possibly damaging	0.92
R1510:Macf1	UTSW	4	123,328,555 (GRCm39)	missense	probably null	1.00
R1515:Macf1	UTSW	4	123,272,273 (GRCm39)	missense	probably damaging	1.00
R1524:Macf1	UTSW	4	123,326,323 (GRCm39)	missense	possibly damaging	0.75
R1528:Macf1	UTSW	4	123,369,807 (GRCm39)	missense	probably benign	0.30
R1535:Macf1	UTSW	4	123,334,486 (GRCm39)	missense	probably benign	0.05
R1556:Macf1	UTSW	4	123,348,813 (GRCm39)	missense	probably damaging	1.00
R1564:Macf1	UTSW	4	123,353,150 (GRCm39)	missense	probably benign	0.00
R1586:Macf1	UTSW	4	123,403,639 (GRCm39)	missense	probably benign	0.20
R1626:Macf1	UTSW	4	123,365,327 (GRCm39)	missense	probably benign
R1629:Macf1	UTSW	4	123,402,208 (GRCm39)	nonsense	probably null
R1649:Macf1	UTSW	4	123,377,846 (GRCm39)	missense	probably damaging	0.96
R1650:Macf1	UTSW	4	123,350,393 (GRCm39)	nonsense	probably null
R1706:Macf1	UTSW	4	123,264,377 (GRCm39)	critical splice donor site	probably null
R1713:Macf1	UTSW	4	123,272,487 (GRCm39)	missense	probably damaging	1.00
R1716:Macf1	UTSW	4	123,295,196 (GRCm39)	missense	probably damaging	1.00
R1744:Macf1	UTSW	4	123,369,646 (GRCm39)	missense	probably damaging	1.00
R1752:Macf1	UTSW	4	123,377,465 (GRCm39)	missense	possibly damaging	0.92
R1771:Macf1	UTSW	4	123,405,901 (GRCm39)	missense	probably damaging	1.00
R1812:Macf1	UTSW	4	123,325,817 (GRCm39)	missense	probably damaging	1.00
R1818:Macf1	UTSW	4	123,270,210 (GRCm39)	missense	probably damaging	1.00
R1853:Macf1	UTSW	4	123,406,513 (GRCm39)	splice site	probably null
R1856:Macf1	UTSW	4	123,263,641 (GRCm39)	missense	probably damaging	1.00
R1869:Macf1	UTSW	4	123,244,921 (GRCm39)	missense	probably damaging	1.00
R1880:Macf1	UTSW	4	123,332,384 (GRCm39)	missense	probably damaging	1.00
R1888:Macf1	UTSW	4	123,368,505 (GRCm39)	missense	probably benign
R1888:Macf1	UTSW	4	123,368,505 (GRCm39)	missense	probably benign
R1888:Macf1	UTSW	4	123,348,835 (GRCm39)	missense	possibly damaging	0.91
R1888:Macf1	UTSW	4	123,348,835 (GRCm39)	missense	possibly damaging	0.91
R1902:Macf1	UTSW	4	123,364,958 (GRCm39)	missense	probably benign	0.01
R1907:Macf1	UTSW	4	123,266,192 (GRCm39)	missense	probably damaging	1.00
R1908:Macf1	UTSW	4	123,351,634 (GRCm39)	missense	possibly damaging	0.67
R1932:Macf1	UTSW	4	123,345,830 (GRCm39)	missense	probably damaging	1.00
R1944:Macf1	UTSW	4	123,264,459 (GRCm39)	missense	probably damaging	1.00
R1945:Macf1	UTSW	4	123,384,453 (GRCm39)	nonsense	probably null
R1975:Macf1	UTSW	4	123,383,005 (GRCm39)	missense	probably damaging	1.00
R1989:Macf1	UTSW	4	123,391,519 (GRCm39)	critical splice donor site	probably null
R1991:Macf1	UTSW	4	123,350,488 (GRCm39)	missense	probably damaging	1.00
R1992:Macf1	UTSW	4	123,350,488 (GRCm39)	missense	probably damaging	1.00
R2013:Macf1	UTSW	4	123,577,807 (GRCm39)	missense	probably damaging	1.00
R2021:Macf1	UTSW	4	123,366,523 (GRCm39)	missense	probably damaging	1.00
R2022:Macf1	UTSW	4	123,366,523 (GRCm39)	missense	probably damaging	1.00
R2023:Macf1	UTSW	4	123,366,523 (GRCm39)	missense	probably damaging	1.00
R2024:Macf1	UTSW	4	123,265,711 (GRCm39)	missense	probably damaging	1.00
R2025:Macf1	UTSW	4	123,265,711 (GRCm39)	missense	probably damaging	1.00
R2027:Macf1	UTSW	4	123,265,711 (GRCm39)	missense	probably damaging	1.00
R2049:Macf1	UTSW	4	123,248,895 (GRCm39)	missense	probably damaging	1.00
R2060:Macf1	UTSW	4	123,393,712 (GRCm39)	splice site	probably null
R2092:Macf1	UTSW	4	123,276,971 (GRCm39)	missense	probably damaging	1.00
R2100:Macf1	UTSW	4	123,291,699 (GRCm39)	nonsense	probably null
R2128:Macf1	UTSW	4	123,386,567 (GRCm39)	missense	probably benign	0.11
R2129:Macf1	UTSW	4	123,262,608 (GRCm39)	splice site	probably benign
R2140:Macf1	UTSW	4	123,248,895 (GRCm39)	missense	probably damaging	1.00
R2142:Macf1	UTSW	4	123,248,895 (GRCm39)	missense	probably damaging	1.00
R2182:Macf1	UTSW	4	123,386,464 (GRCm39)	missense	probably damaging	0.98
R2185:Macf1	UTSW	4	123,369,349 (GRCm39)	missense	probably damaging	0.99
R2190:Macf1	UTSW	4	123,353,005 (GRCm39)	missense	probably benign	0.11
R2320:Macf1	UTSW	4	123,333,288 (GRCm39)	missense	probably benign	0.02
R2382:Macf1	UTSW	4	123,268,625 (GRCm39)	missense	probably damaging	1.00
R2429:Macf1	UTSW	4	123,326,377 (GRCm39)	missense	probably damaging	0.99
R2432:Macf1	UTSW	4	123,577,789 (GRCm39)	missense	probably damaging	1.00
R2484:Macf1	UTSW	4	123,367,465 (GRCm39)	missense	probably damaging	1.00
R2842:Macf1	UTSW	4	123,270,210 (GRCm39)	missense	probably damaging	1.00
R2912:Macf1	UTSW	4	123,369,704 (GRCm39)	missense	probably damaging	1.00
R2913:Macf1	UTSW	4	123,369,704 (GRCm39)	missense	probably damaging	1.00
R2914:Macf1	UTSW	4	123,369,704 (GRCm39)	missense	probably damaging	1.00
R2938:Macf1	UTSW	4	123,326,695 (GRCm39)	missense	probably damaging	0.99
R3082:Macf1	UTSW	4	123,255,236 (GRCm39)	splice site	probably null
R3086:Macf1	UTSW	4	123,328,901 (GRCm39)	missense	probably benign	0.00
R3408:Macf1	UTSW	4	123,275,574 (GRCm39)	missense	probably damaging	1.00
R3499:Macf1	UTSW	4	123,421,098 (GRCm39)	nonsense	probably null
R3696:Macf1	UTSW	4	123,350,155 (GRCm39)	missense	probably damaging	1.00
R3716:Macf1	UTSW	4	123,367,295 (GRCm39)	missense	probably benign	0.01
R3727:Macf1	UTSW	4	123,353,104 (GRCm39)	missense	probably damaging	1.00
R3770:Macf1	UTSW	4	123,268,560 (GRCm39)	missense	probably damaging	1.00
R3813:Macf1	UTSW	4	123,268,560 (GRCm39)	missense	probably damaging	1.00
R3825:Macf1	UTSW	4	123,338,744 (GRCm39)	missense	probably benign	0.11
R3893:Macf1	UTSW	4	123,380,199 (GRCm39)	missense	probably damaging	1.00
R3896:Macf1	UTSW	4	123,364,987 (GRCm39)	missense	possibly damaging	0.55
R3947:Macf1	UTSW	4	123,274,213 (GRCm39)	missense	probably damaging	1.00
R4031:Macf1	UTSW	4	123,275,105 (GRCm39)	missense	probably damaging	1.00
R4052:Macf1	UTSW	4	123,365,810 (GRCm39)	missense	probably benign	0.00
R4077:Macf1	UTSW	4	123,365,884 (GRCm39)	missense	probably benign	0.07
R4078:Macf1	UTSW	4	123,365,884 (GRCm39)	missense	probably benign	0.07
R4084:Macf1	UTSW	4	123,343,865 (GRCm39)	missense	probably damaging	0.98
R4094:Macf1	UTSW	4	123,353,062 (GRCm39)	missense	probably benign	0.00
R4154:Macf1	UTSW	4	123,365,606 (GRCm39)	missense	probably damaging	1.00
R4190:Macf1	UTSW	4	123,366,835 (GRCm39)	missense	possibly damaging	0.95
R4191:Macf1	UTSW	4	123,366,835 (GRCm39)	missense	possibly damaging	0.95
R4192:Macf1	UTSW	4	123,366,835 (GRCm39)	missense	possibly damaging	0.95
R4232:Macf1	UTSW	4	123,326,185 (GRCm39)	missense	probably damaging	1.00
R4299:Macf1	UTSW	4	123,293,199 (GRCm39)	missense	probably damaging	1.00
R4326:Macf1	UTSW	4	123,276,005 (GRCm39)	missense	probably damaging	1.00
R4327:Macf1	UTSW	4	123,276,005 (GRCm39)	missense	probably damaging	1.00
R4355:Macf1	UTSW	4	123,368,884 (GRCm39)	missense	possibly damaging	0.79
R4380:Macf1	UTSW	4	123,248,285 (GRCm39)	intron	probably benign
R4422:Macf1	UTSW	4	123,359,839 (GRCm39)	missense	probably damaging	0.96
R4436:Macf1	UTSW	4	123,421,135 (GRCm39)	missense	probably benign	0.03
R4472:Macf1	UTSW	4	123,289,782 (GRCm39)	missense	probably damaging	1.00
R4515:Macf1	UTSW	4	123,387,781 (GRCm39)	missense	probably damaging	1.00
R4549:Macf1	UTSW	4	123,367,486 (GRCm39)	missense	possibly damaging	0.75
R4621:Macf1	UTSW	4	123,266,141 (GRCm39)	critical splice donor site	probably null
R4622:Macf1	UTSW	4	123,266,141 (GRCm39)	critical splice donor site	probably null
R4623:Macf1	UTSW	4	123,266,141 (GRCm39)	critical splice donor site	probably null
R4630:Macf1	UTSW	4	123,367,432 (GRCm39)	missense	possibly damaging	0.84
R4647:Macf1	UTSW	4	123,367,420 (GRCm39)	missense	probably benign	0.01
R4650:Macf1	UTSW	4	123,367,412 (GRCm39)	missense	probably benign	0.00
R4674:Macf1	UTSW	4	123,366,190 (GRCm39)	missense	probably benign	0.22
R4751:Macf1	UTSW	4	123,365,443 (GRCm39)	missense	probably benign	0.01
R4762:Macf1	UTSW	4	123,349,237 (GRCm39)	missense	probably benign	0.00
R4776:Macf1	UTSW	4	123,369,808 (GRCm39)	missense	probably benign	0.00
R4777:Macf1	UTSW	4	123,270,295 (GRCm39)	missense	probably damaging	1.00
R4860:Macf1	UTSW	4	123,380,543 (GRCm39)	missense	probably damaging	1.00
R4860:Macf1	UTSW	4	123,380,543 (GRCm39)	missense	probably damaging	1.00
R4865:Macf1	UTSW	4	123,327,096 (GRCm39)	missense	probably damaging	1.00
R4867:Macf1	UTSW	4	123,365,993 (GRCm39)	missense	probably damaging	0.97
R4884:Macf1	UTSW	4	123,348,802 (GRCm39)	missense	probably benign	0.02
R4890:Macf1	UTSW	4	123,342,031 (GRCm39)	missense	probably damaging	1.00
R4913:Macf1	UTSW	4	123,393,682 (GRCm39)	missense	probably damaging	1.00
R4925:Macf1	UTSW	4	123,420,445 (GRCm39)	missense	probably benign
R4948:Macf1	UTSW	4	123,391,548 (GRCm39)	missense	probably damaging	1.00
R4958:Macf1	UTSW	4	123,369,157 (GRCm39)	missense	probably damaging	0.99
R4986:Macf1	UTSW	4	123,284,914 (GRCm39)	missense	probably damaging	1.00
R4999:Macf1	UTSW	4	123,388,702 (GRCm39)	missense	probably benign	0.14
R5004:Macf1	UTSW	4	123,279,268 (GRCm39)	missense	probably damaging	1.00
R5017:Macf1	UTSW	4	123,345,906 (GRCm39)	missense	probably damaging	1.00
R5018:Macf1	UTSW	4	123,279,392 (GRCm39)	missense	probably damaging	1.00
R5026:Macf1	UTSW	4	123,333,287 (GRCm39)	missense	possibly damaging	0.95
R5037:Macf1	UTSW	4	123,349,312 (GRCm39)	missense	probably damaging	0.97
R5039:Macf1	UTSW	4	123,405,013 (GRCm39)	missense	probably damaging	1.00
R5041:Macf1	UTSW	4	123,290,839 (GRCm39)	splice site	probably null
R5100:Macf1	UTSW	4	123,368,261 (GRCm39)	missense	probably benign	0.11
R5110:Macf1	UTSW	4	123,261,801 (GRCm39)	missense	probably damaging	0.99
R5122:Macf1	UTSW	4	123,346,085 (GRCm39)	missense	probably damaging	1.00
R5187:Macf1	UTSW	4	123,365,882 (GRCm39)	missense	probably benign	0.00
R5191:Macf1	UTSW	4	123,366,755 (GRCm39)	missense	probably benign	0.00
R5201:Macf1	UTSW	4	123,369,738 (GRCm39)	nonsense	probably null
R5236:Macf1	UTSW	4	123,291,614 (GRCm39)	missense	probably damaging	1.00
R5248:Macf1	UTSW	4	123,295,567 (GRCm39)	nonsense	probably null
R5251:Macf1	UTSW	4	123,343,760 (GRCm39)	missense	probably benign	0.20
R5319:Macf1	UTSW	4	123,367,229 (GRCm39)	missense	probably damaging	1.00
R5326:Macf1	UTSW	4	123,244,784 (GRCm39)	frame shift	probably null
R5327:Macf1	UTSW	4	123,244,784 (GRCm39)	frame shift	probably null
R5328:Macf1	UTSW	4	123,244,784 (GRCm39)	frame shift	probably null
R5350:Macf1	UTSW	4	123,421,251 (GRCm39)	start codon destroyed	probably null	0.02
R5390:Macf1	UTSW	4	123,365,546 (GRCm39)	missense	probably damaging	0.98
R5419:Macf1	UTSW	4	123,290,917 (GRCm39)	missense	possibly damaging	0.70
R5428:Macf1	UTSW	4	123,278,661 (GRCm39)	missense	probably damaging	1.00
R5432:Macf1	UTSW	4	123,353,129 (GRCm39)	nonsense	probably null
R5466:Macf1	UTSW	4	123,346,658 (GRCm39)	missense	possibly damaging	0.75
R5472:Macf1	UTSW	4	123,343,854 (GRCm39)	missense	probably benign
R5564:Macf1	UTSW	4	123,420,538 (GRCm39)	missense	possibly damaging	0.92
R5566:Macf1	UTSW	4	123,328,957 (GRCm39)	missense	probably damaging	0.98
R5597:Macf1	UTSW	4	123,433,570 (GRCm39)	intron	probably benign
R5669:Macf1	UTSW	4	123,370,018 (GRCm39)	missense	probably damaging	1.00
R5682:Macf1	UTSW	4	123,328,552 (GRCm39)	missense	probably damaging	1.00
R5701:Macf1	UTSW	4	123,397,018 (GRCm39)	missense	probably damaging	1.00
R5715:Macf1	UTSW	4	123,577,807 (GRCm39)	missense	probably damaging	1.00
R5760:Macf1	UTSW	4	123,407,677 (GRCm39)	missense	probably damaging	1.00
R5806:Macf1	UTSW	4	123,265,680 (GRCm39)	missense	probably damaging	1.00
R5838:Macf1	UTSW	4	123,345,947 (GRCm39)	missense	possibly damaging	0.95
R5839:Macf1	UTSW	4	123,275,117 (GRCm39)	missense	probably damaging	1.00
R5850:Macf1	UTSW	4	123,401,099 (GRCm39)	missense	probably damaging	1.00
R5875:Macf1	UTSW	4	123,326,107 (GRCm39)	missense	possibly damaging	0.78
R5912:Macf1	UTSW	4	123,290,951 (GRCm39)	missense	probably damaging	1.00
R5913:Macf1	UTSW	4	123,369,832 (GRCm39)	missense	probably damaging	1.00
R5921:Macf1	UTSW	4	123,420,504 (GRCm39)	missense	probably benign
R5940:Macf1	UTSW	4	123,326,674 (GRCm39)	missense	probably damaging	1.00
R5950:Macf1	UTSW	4	123,333,229 (GRCm39)	splice site	probably null
R6005:Macf1	UTSW	4	123,368,068 (GRCm39)	missense	possibly damaging	0.82
R6029:Macf1	UTSW	4	123,401,126 (GRCm39)	missense	probably damaging	1.00
R6041:Macf1	UTSW	4	123,407,641 (GRCm39)	missense	probably damaging	1.00
R6057:Macf1	UTSW	4	123,404,536 (GRCm39)	missense	probably damaging	0.98
R6156:Macf1	UTSW	4	123,366,073 (GRCm39)	missense	probably benign	0.00
R6186:Macf1	UTSW	4	123,377,968 (GRCm39)	missense	probably damaging	1.00
R6197:Macf1	UTSW	4	123,346,085 (GRCm39)	missense	probably damaging	1.00
R6262:Macf1	UTSW	4	123,366,983 (GRCm39)	missense	possibly damaging	0.79
R6296:Macf1	UTSW	4	123,326,668 (GRCm39)	missense	probably damaging	1.00
R6340:Macf1	UTSW	4	123,342,042 (GRCm39)	missense	probably benign	0.13
R6369:Macf1	UTSW	4	123,304,355 (GRCm39)	missense	possibly damaging	0.90
R6414:Macf1	UTSW	4	123,386,988 (GRCm39)	missense	possibly damaging	0.93
R6429:Macf1	UTSW	4	123,295,387 (GRCm39)	splice site	probably null
R6501:Macf1	UTSW	4	123,363,425 (GRCm39)	splice site	probably null
R6508:Macf1	UTSW	4	123,363,535 (GRCm39)	missense	probably damaging	0.96
R6519:Macf1	UTSW	4	123,366,118 (GRCm39)	missense	probably benign	0.13
R6535:Macf1	UTSW	4	123,365,728 (GRCm39)	missense	possibly damaging	0.82
R6537:Macf1	UTSW	4	123,386,518 (GRCm39)	missense	probably damaging	1.00
R6546:Macf1	UTSW	4	123,326,074 (GRCm39)	missense	probably benign	0.14
R6583:Macf1	UTSW	4	123,364,739 (GRCm39)	splice site	probably null
R6597:Macf1	UTSW	4	123,276,485 (GRCm39)	missense	probably damaging	1.00
R6693:Macf1	UTSW	4	123,367,601 (GRCm39)	missense	possibly damaging	0.82
R6696:Macf1	UTSW	4	123,403,596 (GRCm39)	missense	probably damaging	1.00
R6704:Macf1	UTSW	4	123,304,555 (GRCm39)	intron	probably benign
R6716:Macf1	UTSW	4	123,402,231 (GRCm39)	missense	probably damaging	1.00
R6789:Macf1	UTSW	4	123,266,231 (GRCm39)	missense	probably damaging	1.00
R6807:Macf1	UTSW	4	123,268,208 (GRCm39)	missense	probably damaging	1.00
R6825:Macf1	UTSW	4	123,277,015 (GRCm39)	splice site	probably null
R6881:Macf1	UTSW	4	123,326,246 (GRCm39)	missense	probably damaging	1.00
R6894:Macf1	UTSW	4	123,377,480 (GRCm39)	missense	possibly damaging	0.89
R6924:Macf1	UTSW	4	123,421,145 (GRCm39)	missense	possibly damaging	0.53
R6962:Macf1	UTSW	4	123,334,515 (GRCm39)	missense	probably benign	0.01
R6965:Macf1	UTSW	4	123,302,538 (GRCm39)	missense	probably benign	0.38
R6969:Macf1	UTSW	4	123,351,593 (GRCm39)	missense	probably benign	0.01
R7032:Macf1	UTSW	4	123,366,101 (GRCm39)	missense	probably benign	0.00
R7055:Macf1	UTSW	4	123,302,989 (GRCm39)	missense	probably benign	0.01
R7078:Macf1	UTSW	4	123,325,936 (GRCm39)	missense	probably damaging	0.99
R7215:Macf1	UTSW	4	123,401,097 (GRCm39)	missense	probably damaging	1.00
R7263:Macf1	UTSW	4	123,271,943 (GRCm39)	missense	probably damaging	1.00
R7265:Macf1	UTSW	4	123,301,670 (GRCm39)	missense	probably benign	0.00
R7278:Macf1	UTSW	4	123,334,536 (GRCm39)	missense	possibly damaging	0.87
R7312:Macf1	UTSW	4	123,400,130 (GRCm39)	missense	probably damaging	1.00
R7324:Macf1	UTSW	4	123,268,218 (GRCm39)	missense	probably benign	0.09
R7334:Macf1	UTSW	4	123,293,235 (GRCm39)	missense	probably damaging	1.00
R7342:Macf1	UTSW	4	123,275,917 (GRCm39)	missense	probably damaging	1.00
R7409:Macf1	UTSW	4	123,398,263 (GRCm39)	missense	probably damaging	1.00
R7436:Macf1	UTSW	4	123,350,436 (GRCm39)	missense	probably benign
R7440:Macf1	UTSW	4	123,349,239 (GRCm39)	nonsense	probably null
R7462:Macf1	UTSW	4	123,386,556 (GRCm39)	missense	probably damaging	1.00
R7471:Macf1	UTSW	4	123,366,082 (GRCm39)	missense	probably benign	0.00
R7472:Macf1	UTSW	4	123,326,860 (GRCm39)	missense	probably benign	0.16
R7486:Macf1	UTSW	4	123,303,374 (GRCm39)	missense	probably benign	0.00
R7492:Macf1	UTSW	4	123,369,524 (GRCm39)	missense	possibly damaging	0.83
R7511:Macf1	UTSW	4	123,367,093 (GRCm39)	missense	possibly damaging	0.72
R7528:Macf1	UTSW	4	123,325,852 (GRCm39)	missense	possibly damaging	0.90
R7547:Macf1	UTSW	4	123,335,410 (GRCm39)	missense	probably damaging	1.00
R7592:Macf1	UTSW	4	123,304,686 (GRCm39)	intron	probably benign
R7723:Macf1	UTSW	4	123,326,717 (GRCm39)	missense	probably benign	0.00
R7731:Macf1	UTSW	4	123,338,672 (GRCm39)	missense	probably benign	0.19
R7739:Macf1	UTSW	4	123,279,391 (GRCm39)	missense	probably damaging	1.00
R7740:Macf1	UTSW	4	123,578,096 (GRCm39)	start gained	probably benign
R7798:Macf1	UTSW	4	123,271,893 (GRCm39)	missense	probably damaging	1.00
R7799:Macf1	UTSW	4	123,420,906 (GRCm39)	missense	probably benign	0.00
R7801:Macf1	UTSW	4	123,302,064 (GRCm39)	missense	probably damaging	0.97
R7842:Macf1	UTSW	4	123,420,702 (GRCm39)	missense	probably benign	0.12
R7849:Macf1	UTSW	4	123,301,392 (GRCm39)	missense	probably benign	0.00
R7873:Macf1	UTSW	4	123,398,344 (GRCm39)	critical splice acceptor site	probably null
R7933:Macf1	UTSW	4	123,303,444 (GRCm39)	missense	probably benign	0.00
R7934:Macf1	UTSW	4	123,367,727 (GRCm39)	missense	possibly damaging	0.89
R7947:Macf1	UTSW	4	123,295,200 (GRCm39)	missense	probably damaging	0.98
R7988:Macf1	UTSW	4	123,400,273 (GRCm39)	missense	probably damaging	1.00
R7992:Macf1	UTSW	4	123,289,753 (GRCm39)	missense	probably damaging	1.00
R8013:Macf1	UTSW	4	123,420,619 (GRCm39)	missense	probably benign	0.00
R8014:Macf1	UTSW	4	123,420,619 (GRCm39)	missense	probably benign	0.00
R8029:Macf1	UTSW	4	123,338,685 (GRCm39)	missense	possibly damaging	0.50
R8064:Macf1	UTSW	4	123,353,167 (GRCm39)	missense	possibly damaging	0.91
R8085:Macf1	UTSW	4	123,303,875 (GRCm39)	missense	possibly damaging	0.46
R8094:Macf1	UTSW	4	123,263,660 (GRCm39)	missense	probably damaging	0.99
R8099:Macf1	UTSW	4	123,369,922 (GRCm39)	missense	probably benign	0.22
R8147:Macf1	UTSW	4	123,385,491 (GRCm39)	missense	probably damaging	1.00
R8151:Macf1	UTSW	4	123,291,206 (GRCm39)	missense	possibly damaging	0.91
R8186:Macf1	UTSW	4	123,275,923 (GRCm39)	missense	possibly damaging	0.89
R8186:Macf1	UTSW	4	123,266,219 (GRCm39)	missense	probably damaging	1.00
R8192:Macf1	UTSW	4	123,334,390 (GRCm39)	missense	probably damaging	1.00
R8196:Macf1	UTSW	4	123,276,497 (GRCm39)	missense	probably damaging	1.00
R8260:Macf1	UTSW	4	123,365,863 (GRCm39)	missense	probably benign
R8305:Macf1	UTSW	4	123,289,414 (GRCm39)	intron	probably benign
R8333:Macf1	UTSW	4	123,279,245 (GRCm39)	splice site	probably null
R8334:Macf1	UTSW	4	123,325,901 (GRCm39)	missense	possibly damaging	0.82
R8344:Macf1	UTSW	4	123,420,649 (GRCm39)	missense	probably benign
R8344:Macf1	UTSW	4	123,278,476 (GRCm39)	missense	probably damaging	1.00
R8422:Macf1	UTSW	4	123,303,279 (GRCm39)	missense	possibly damaging	0.46
R8459:Macf1	UTSW	4	123,374,107 (GRCm39)	missense	possibly damaging	0.68
R8466:Macf1	UTSW	4	123,349,237 (GRCm39)	missense	probably benign	0.00
R8472:Macf1	UTSW	4	123,346,795 (GRCm39)	missense	probably damaging	1.00
R8556:Macf1	UTSW	4	123,382,136 (GRCm39)	missense	probably damaging	1.00
R8679:Macf1	UTSW	4	123,405,869 (GRCm39)	missense	probably benign	0.00
R8723:Macf1	UTSW	4	123,348,910 (GRCm39)	nonsense	probably null
R8732:Macf1	UTSW	4	123,403,563 (GRCm39)	critical splice donor site	probably null
R8747:Macf1	UTSW	4	123,248,944 (GRCm39)	missense	probably damaging	1.00
R8748:Macf1	UTSW	4	123,368,068 (GRCm39)	missense	probably benign	0.00
R8785:Macf1	UTSW	4	123,342,053 (GRCm39)	critical splice acceptor site	probably null
R8826:Macf1	UTSW	4	123,276,022 (GRCm39)	missense	probably damaging	1.00
R8828:Macf1	UTSW	4	123,302,204 (GRCm39)	missense	probably benign	0.01
R8833:Macf1	UTSW	4	123,365,134 (GRCm39)	missense	probably benign
R8889:Macf1	UTSW	4	123,249,036 (GRCm39)	missense	probably damaging	1.00
R8892:Macf1	UTSW	4	123,249,036 (GRCm39)	missense	probably damaging	1.00
R8893:Macf1	UTSW	4	123,304,323 (GRCm39)	missense	probably benign	0.27
R8899:Macf1	UTSW	4	123,368,852 (GRCm39)	missense	probably benign	0.00
R8956:Macf1	UTSW	4	123,368,641 (GRCm39)	missense	probably benign
R9037:Macf1	UTSW	4	123,365,518 (GRCm39)	missense	probably benign	0.03
R9086:Macf1	UTSW	4	123,377,944 (GRCm39)	missense	probably damaging	1.00
R9111:Macf1	UTSW	4	123,406,819 (GRCm39)	missense	probably damaging	1.00
R9126:Macf1	UTSW	4	123,276,193 (GRCm39)	missense	possibly damaging	0.88
R9139:Macf1	UTSW	4	123,328,564 (GRCm39)	missense	probably damaging	1.00
R9140:Macf1	UTSW	4	123,367,855 (GRCm39)	missense	possibly damaging	0.92
R9149:Macf1	UTSW	4	123,365,326 (GRCm39)	missense	probably benign	0.40
R9163:Macf1	UTSW	4	123,403,686 (GRCm39)	missense	probably damaging	1.00
R9177:Macf1	UTSW	4	123,367,582 (GRCm39)	missense	probably damaging	1.00
R9206:Macf1	UTSW	4	123,577,925 (GRCm39)	missense	unknown
R9208:Macf1	UTSW	4	123,577,925 (GRCm39)	missense	unknown
R9209:Macf1	UTSW	4	123,326,227 (GRCm39)	missense	probably damaging	1.00
R9219:Macf1	UTSW	4	123,301,554 (GRCm39)	missense	possibly damaging	0.81
R9224:Macf1	UTSW	4	123,326,690 (GRCm39)	missense	probably damaging	1.00
R9241:Macf1	UTSW	4	123,271,952 (GRCm39)	missense	probably damaging	1.00
R9268:Macf1	UTSW	4	123,367,582 (GRCm39)	missense	probably damaging	1.00
R9276:Macf1	UTSW	4	123,328,501 (GRCm39)	missense	probably damaging	1.00
R9296:Macf1	UTSW	4	123,400,246 (GRCm39)	missense	probably damaging	0.99
R9369:Macf1	UTSW	4	123,349,150 (GRCm39)	critical splice donor site	probably null
R9438:Macf1	UTSW	4	123,279,366 (GRCm39)	missense	probably benign	0.01
R9443:Macf1	UTSW	4	123,365,668 (GRCm39)	missense	probably benign
R9529:Macf1	UTSW	4	123,407,680 (GRCm39)	missense	probably damaging	1.00
R9600:Macf1	UTSW	4	123,365,002 (GRCm39)	missense	possibly damaging	0.76
R9613:Macf1	UTSW	4	123,420,288 (GRCm39)	missense	probably benign	0.41
R9686:Macf1	UTSW	4	123,377,491 (GRCm39)	missense	possibly damaging	0.64
R9689:Macf1	UTSW	4	123,365,654 (GRCm39)	missense	probably benign
R9740:Macf1	UTSW	4	123,366,853 (GRCm39)	missense	probably damaging	1.00
R9740:Macf1	UTSW	4	123,266,177 (GRCm39)	missense	probably damaging	1.00
R9764:Macf1	UTSW	4	123,366,136 (GRCm39)	missense	probably benign	0.02
R9779:Macf1	UTSW	4	123,348,789 (GRCm39)	missense	probably benign	0.02
RF011:Macf1	UTSW	4	123,367,648 (GRCm39)	missense	probably damaging	1.00
X0022:Macf1	UTSW	4	123,343,835 (GRCm39)	missense	probably damaging	0.99
X0027:Macf1	UTSW	4	123,397,062 (GRCm39)	missense	probably damaging	1.00
X0064:Macf1	UTSW	4	123,405,667 (GRCm39)	missense	probably damaging	1.00
Z1177:Macf1	UTSW	4	123,365,268 (GRCm39)	missense	probably benign

Protein Function and Prediction

Macf1 encodes ACF7, a member of the spectraplakin family of proteins that function in several processes including gastrulation, wound healing, skin blistering and neuronal degeneration (1;2). The spectraplakin protiens are cytoskeletal cross-linking proteins that bind both actin and microtubules (1). ACF7 has been shown to be essential in the developing nervous system to coordinate the organization of actin and microtubule networks during axonal growth (2). In addition, ACF7 has been shown to function in wound healing and epidermal migration by acting as an actin-regulated ATPase (3). ACF7 has been shown to function in the translocation and subsequent binding of the Axin complex to LRP6 at the cell membrane upon Wnt stimulation (4). Northern blot analysis detected ubiquitous MACF1 expression; highest expression was in the heart, skeletal muscle, prostate, intestine, colon, and gonads while lowest expression was in brain, spleen, thymus, liver, placenta, and lung (5). Another study detected high expression of MACF1 in heart, placenta, liver, kidney, and pancreas, moderate expression in brain and lung, and weak expression in skeletal muscle by RT-PCR (6). Immunofluoresense detected ACF7 in a filamentous network throughout the cytoplasm (5). Additional studies detected ACF7 binds along microtubules, but is concentrated at the distal ends (1).

Macf1^{tm1Liem/tm1Liem}; MGI:3652899

involves: 129S6/SvEvTac * C57BL/6J

Homozygotes exhibit complete embryonic lethality at ~E7.5 and a failure to form a primitive streak (4).

Macf1^tm2.1Liem/Macf1^tm2.2Liem/Tg(Nes-cre)1Kin; MGI:4831019

involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality (7).

References

1. Kodama, A., Karakesisoglou, I., Wong, E., Vaezi, A., and Fuchs, E. (2003) ACF7: An Essential Integrator of Microtubule Dynamics. Cell. 115, 343-354.

2. Sanchez-Soriano, N., Travis, M., Dajas-Bailador, F., Goncalves-Pimentel, C., Whitmarsh, A. J., and Prokop, A. (2009) Mouse ACF7 and Drosophila Short Stop Modulate Filopodia Formation and Microtubule Organisation during Neuronal Growth. J Cell Sci. 122, 2534-2542.

3. Wu, X., Kodama, A., and Fuchs, E. (2008) ACF7 Regulates Cytoskeletal-Focal Adhesion Dynamics and Migration and has ATPase Activity. Cell. 135, 137-148.

4. Chen, H. J., Lin, C. M., Lin, C. S., Perez-Olle, R., Leung, C. L., and Liem, R. K. (2006) The Role of Microtubule Actin Cross-Linking Factor 1 (MACF1) in the Wnt Signaling Pathway. Genes Dev. 20, 1933-1945.

5. Sun, Y., Zhang, J., Kraeft, S. K., Auclair, D., Chang, M. S., Liu, Y., Sutherland, R., Salgia, R., Griffin, J. D., Ferland, L. H., and Chen, L. B. (1999) Molecular Cloning and Characterization of Human Trabeculin-Alpha, a Giant Protein Defining a New Family of Actin-Binding Proteins. J Biol Chem. 274, 33522-33530.

6. Okuda, T., Matsuda, S., Nakatsugawa, S., Ichigotani, Y., Iwahashi, N., Takahashi, M., Ishigaki, T., and Hamaguchi, M. (1999) Molecular Cloning of Macrophin, a Human Homologue of Drosophila Kakapo with a Close Structural Similarity to Plectin and Dystrophin. Biochem Biophys Res Commun. 264, 568-574.

7. Goryunov, D., He, C. Z., Lin, C. S., Leung, C. L., and Liem, R. K. (2010) Nervous-Tissue-Specific Elimination of Microtubule-Actin Crosslinking Factor 1a Results in Multiple Developmental Defects in the Mouse Brain. Mol Cell Neurosci. 44, 1-14.

Posted On

2012-12-21

Science Writer

Anne Murray