Mutagenetix > Incidental Mutations

Incidental Mutation 'R6705:Zfp236'

528923

Institutional Source

Beutler Lab

Gene Symbol

Zfp236

Ensembl Gene

ENSMUSG00000041258

Gene Name

zinc finger protein 236

Synonyms

LOC240456

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82593593-82692883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82633737 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 821 (E821V)

Ref Sequence

ENSEMBL: ENSMUSP00000130004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171071] [ENSMUST00000182122] [ENSMUST00000183048]

Predicted Effect

probably damaging
Transcript: ENSMUST00000171071
AA Change: E821V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130004
Gene: ENSMUSG00000041258
AA Change: E821V

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
low complexity region	290	309	N/A	INTRINSIC
low complexity region	403	426	N/A	INTRINSIC
ZnF_C2H2	436	458	1.98e-4	SMART
ZnF_C2H2	464	486	9.58e-3	SMART
ZnF_C2H2	492	514	6.42e-4	SMART
ZnF_C2H2	520	542	1.18e-2	SMART
low complexity region	592	605	N/A	INTRINSIC
ZnF_C2H2	611	633	1.62e0	SMART
ZnF_C2H2	639	661	5.21e-4	SMART
ZnF_C2H2	667	689	6.78e-3	SMART
ZnF_C2H2	695	717	7.37e-4	SMART
low complexity region	720	733	N/A	INTRINSIC
ZnF_C2H2	922	944	5.21e-4	SMART
ZnF_C2H2	950	972	1.04e-3	SMART
ZnF_C2H2	978	1000	8.6e-5	SMART
ZnF_C2H2	1006	1028	2.75e-3	SMART
low complexity region	1030	1039	N/A	INTRINSIC
ZnF_C2H2	1122	1144	7.78e-3	SMART
ZnF_C2H2	1150	1172	3.63e-3	SMART
ZnF_C2H2	1178	1200	6.88e-4	SMART
ZnF_C2H2	1206	1228	5.42e-2	SMART
low complexity region	1243	1258	N/A	INTRINSIC
low complexity region	1462	1477	N/A	INTRINSIC
ZnF_C2H2	1612	1635	7.15e-2	SMART
ZnF_C2H2	1641	1663	2.91e-2	SMART
ZnF_C2H2	1677	1699	7.26e-3	SMART
ZnF_C2H2	1705	1727	1.84e-4	SMART
ZnF_C2H2	1733	1756	2.95e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182122
AA Change: E869V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138557
Gene: ENSMUSG00000041258
AA Change: E869V

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
ZnF_C2H2	287	310	9.58e-3	SMART
low complexity region	338	357	N/A	INTRINSIC
low complexity region	451	474	N/A	INTRINSIC
ZnF_C2H2	484	506	1.98e-4	SMART
ZnF_C2H2	512	534	9.58e-3	SMART
ZnF_C2H2	540	562	6.42e-4	SMART
ZnF_C2H2	568	590	1.18e-2	SMART
low complexity region	640	653	N/A	INTRINSIC
ZnF_C2H2	659	681	1.62e0	SMART
ZnF_C2H2	687	709	5.21e-4	SMART
ZnF_C2H2	715	737	6.78e-3	SMART
ZnF_C2H2	743	765	7.37e-4	SMART
low complexity region	768	781	N/A	INTRINSIC
ZnF_C2H2	970	992	5.21e-4	SMART
ZnF_C2H2	998	1020	1.04e-3	SMART
ZnF_C2H2	1026	1048	8.6e-5	SMART
ZnF_C2H2	1054	1076	2.75e-3	SMART
low complexity region	1078	1087	N/A	INTRINSIC
ZnF_C2H2	1170	1192	7.78e-3	SMART
ZnF_C2H2	1198	1220	3.63e-3	SMART
ZnF_C2H2	1226	1248	6.88e-4	SMART
ZnF_C2H2	1254	1276	5.42e-2	SMART
low complexity region	1291	1306	N/A	INTRINSIC
low complexity region	1510	1525	N/A	INTRINSIC
ZnF_C2H2	1660	1683	7.15e-2	SMART
ZnF_C2H2	1689	1711	2.91e-2	SMART
ZnF_C2H2	1725	1747	7.26e-3	SMART
ZnF_C2H2	1753	1775	1.84e-4	SMART
ZnF_C2H2	1781	1804	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183048

SMART Domains

Protein: ENSMUSP00000138179
Gene: ENSMUSG00000041258

Domain	Start	End	E-Value	Type
ZnF_C2H2	39	61	2.24e-3	SMART
ZnF_C2H2	68	90	2.29e0	SMART
ZnF_C2H2	95	117	1.26e-2	SMART
ZnF_C2H2	123	145	6.67e-2	SMART
ZnF_C2H2	155	177	6.42e-4	SMART
ZnF_C2H2	199	221	1.75e-5	SMART
ZnF_C2H2	227	249	1.52e-5	SMART
ZnF_C2H2	255	278	8.94e-3	SMART
ZnF_C2H2	287	310	9.58e-3	SMART
low complexity region	338	357	N/A	INTRINSIC
low complexity region	454	467	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,215,821	T46I	probably benign	Het
Afdn	G	A	17: 13,888,021	V1269I	probably benign	Het
Aldh5a1	A	T	13: 24,912,270	N448K	probably damaging	Het
Cant1	G	T	11: 118,407,872	T355K	probably damaging	Het
Comp	C	A	8: 70,376,737	N321K	probably damaging	Het
Ctgf	T	A	10: 24,595,955	L25Q	probably damaging	Het
D1Pas1	G	T	1: 186,968,379	E168D	probably benign	Het
Ddx23	G	A	15: 98,652,968	R111*	probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Erlin2	T	A	8: 27,036,440	L276Q	probably damaging	Het
Etaa1	T	C	11: 17,945,639	N826S	probably benign	Het
Fam168b	A	T	1: 34,828,783	N45K	probably damaging	Het
Gas2l2	G	A	11: 83,422,636	R617*	probably null	Het
Gtf3c2	C	A	5: 31,166,008	C533F	possibly damaging	Het
Hdac5	T	C	11: 102,201,236	T676A	probably damaging	Het
Helb	A	G	10: 120,089,811		probably null	Het
Igkv3-7	A	T	6: 70,608,020	S95C	probably benign	Het
Kdm3b	A	G	18: 34,819,873	I899V	probably damaging	Het
Lgr5	G	A	10: 115,587,288	S69F	probably damaging	Het
Lrrc55	A	T	2: 85,196,355	D108E	probably benign	Het
Mphosph9	T	C	5: 124,290,964	N667S	possibly damaging	Het
Myf6	C	T	10: 107,493,829	V198M	possibly damaging	Het
Nav2	T	C	7: 49,551,916	S1413P	probably damaging	Het
Nfe2l1	A	C	11: 96,827,625	V28G	probably damaging	Het
Nup210	G	T	6: 91,087,960	T186K	possibly damaging	Het
Olfr46	T	A	7: 140,610,784	M206K	probably damaging	Het
Olfr786	G	A	10: 129,437,072	D87N	probably benign	Het
Olfr874	T	A	9: 37,746,734	I200N	possibly damaging	Het
Olfr878	T	A	9: 37,918,784	N42K	probably damaging	Het
Ppfia1	G	A	7: 144,519,174	T301M	possibly damaging	Het
Ppp1r14c	A	T	10: 3,366,890	Y75F	probably damaging	Het
Ppp1r3g	C	A	13: 35,968,897	A100E	probably benign	Het
Rictor	A	G	15: 6,794,012	T1557A	probably benign	Het
Shc1	C	T	3: 89,422,959	R67*	probably null	Het
Skint10	A	T	4: 112,773,104		probably benign	Het
Slk	A	G	19: 47,609,059	N102S	probably benign	Het
Tbc1d5	T	C	17: 51,025,175		probably benign	Het
Tiam2	G	A	17: 3,518,243	V1555I	probably benign	Het
Vmn1r174	C	A	7: 23,754,426	S172R	probably benign	Het
Vps39	A	T	2: 120,320,676	N823K	probably benign	Het
Wdr27	A	T	17: 14,934,590	Y22N	probably damaging	Het
Xrn2	A	G	2: 147,036,662		probably null	Het
Zbp1	A	T	2: 173,213,887	C161*	probably null	Het

Other mutations in Zfp236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Zfp236	APN	18	82668690	missense	probably benign	0.44
IGL01760:Zfp236	APN	18	82621422	missense	probably damaging	1.00
IGL01923:Zfp236	APN	18	82682219	missense	probably damaging	0.98
IGL01934:Zfp236	APN	18	82633120	missense	probably damaging	0.99
IGL01949:Zfp236	APN	18	82624396	missense	probably damaging	1.00
IGL02063:Zfp236	APN	18	82658151	missense	probably benign
IGL02496:Zfp236	APN	18	82629992	missense	probably damaging	1.00
IGL02513:Zfp236	APN	18	82630114	missense	probably damaging	1.00
IGL02626:Zfp236	APN	18	82657995	splice site	probably benign
IGL02880:Zfp236	APN	18	82624459	missense	probably benign	0.15
IGL03156:Zfp236	APN	18	82680702	missense	probably damaging	1.00
IGL03261:Zfp236	APN	18	82630608	missense	possibly damaging	0.93
R0047:Zfp236	UTSW	18	82680692	missense	probably damaging	1.00
R0052:Zfp236	UTSW	18	82639332	missense	probably damaging	1.00
R0194:Zfp236	UTSW	18	82656987	missense	probably damaging	1.00
R0207:Zfp236	UTSW	18	82640227	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82629994	missense	probably damaging	1.00
R0234:Zfp236	UTSW	18	82629994	missense	probably damaging	1.00
R0302:Zfp236	UTSW	18	82658088	missense	probably damaging	0.99
R0730:Zfp236	UTSW	18	82640244	splice site	probably benign
R0755:Zfp236	UTSW	18	82620332	missense	probably damaging	1.00
R1202:Zfp236	UTSW	18	82628166	missense	probably benign	0.00
R1449:Zfp236	UTSW	18	82646005	missense	probably damaging	1.00
R1550:Zfp236	UTSW	18	82674424	missense	possibly damaging	0.81
R1785:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R1786:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2042:Zfp236	UTSW	18	82633109	missense	probably damaging	1.00
R2132:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2133:Zfp236	UTSW	18	82621304	missense	probably benign	0.08
R2247:Zfp236	UTSW	18	82604298	missense	possibly damaging	0.82
R2484:Zfp236	UTSW	18	82668637	missense	probably benign	0.05
R3715:Zfp236	UTSW	18	82632970	splice site	probably benign
R4003:Zfp236	UTSW	18	82680745	nonsense	probably null
R4031:Zfp236	UTSW	18	82624465	missense	probably damaging	1.00
R4482:Zfp236	UTSW	18	82644221	missense	probably benign	0.04
R4492:Zfp236	UTSW	18	82630000	missense	probably damaging	1.00
R4502:Zfp236	UTSW	18	82636954	missense	probably benign	0.13
R4561:Zfp236	UTSW	18	82620406	missense	probably damaging	1.00
R4649:Zfp236	UTSW	18	82597659	missense	probably damaging	1.00
R4902:Zfp236	UTSW	18	82609418	missense	possibly damaging	0.89
R5064:Zfp236	UTSW	18	82691576	critical splice donor site	probably null
R5084:Zfp236	UTSW	18	82609431	missense	probably damaging	1.00
R5090:Zfp236	UTSW	18	82618881	missense	probably benign	0.08
R5191:Zfp236	UTSW	18	82621423	missense	probably damaging	1.00
R5264:Zfp236	UTSW	18	82630094	missense	probably damaging	1.00
R5264:Zfp236	UTSW	18	82658073	missense	probably damaging	0.99
R5339:Zfp236	UTSW	18	82624366	missense	probably damaging	0.99
R5375:Zfp236	UTSW	18	82597688	missense	possibly damaging	0.93
R5445:Zfp236	UTSW	18	82682156	missense	probably benign	0.02
R5513:Zfp236	UTSW	18	82658022	missense	probably damaging	0.97
R5527:Zfp236	UTSW	18	82658034	missense	possibly damaging	0.51
R5628:Zfp236	UTSW	18	82657122	missense	probably damaging	1.00
R5758:Zfp236	UTSW	18	82671709	missense	probably damaging	1.00
R5890:Zfp236	UTSW	18	82640151	missense	possibly damaging	0.87
R6137:Zfp236	UTSW	18	82671794	missense	possibly damaging	0.89
R6193:Zfp236	UTSW	18	82604247	missense	probably damaging	1.00
R6198:Zfp236	UTSW	18	82657153	missense	probably damaging	1.00
R6239:Zfp236	UTSW	18	82657104	missense	possibly damaging	0.53
R6948:Zfp236	UTSW	18	82644062	missense	possibly damaging	0.94
R6989:Zfp236	UTSW	18	82628363	missense	probably damaging	1.00
R7002:Zfp236	UTSW	18	82691576	critical splice donor site	probably null
R7113:Zfp236	UTSW	18	82620337	missense	possibly damaging	0.82
R7261:Zfp236	UTSW	18	82609345	missense	possibly damaging	0.86
R7363:Zfp236	UTSW	18	82621331	missense	probably damaging	1.00
R7447:Zfp236	UTSW	18	82633690	missense	probably damaging	1.00
R7564:Zfp236	UTSW	18	82644241	nonsense	probably null
R7731:Zfp236	UTSW	18	82680673	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ACCCTGGATAGAACAGCTACG -3'
(R):5'- CCTCTTGTCTTTTGCAAGTGAG -3'

Sequencing Primer
(F):5'- CCTGGATAGAACAGCTACGAATTTC -3'
(R):5'- TCTTTTGCAAGTGAGGAGGATAAGC -3'

Posted On

2018-07-24