Mutagenetix > Incidental Mutation

Incidental Mutation 'R4690:Srcap'

354846

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, B930091H02Rik, F630004O05Rik

MMRRC Submission

041941-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R4690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127111155-127160391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127137186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 956 (G956D)

Ref Sequence

ENSEMBL: ENSMUSP00000139399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066582] [ENSMUST00000186672] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000189629] [ENSMUST00000190390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066582

SMART Domains

Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877

Domain	Start	End	E-Value	Type
Pfam:HSA	108	177	1.1e-22	PFAM
low complexity region	238	261	N/A	INTRINSIC
low complexity region	264	291	N/A	INTRINSIC
low complexity region	303	328	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC
low complexity region	460	538	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
DEXDc	606	798	1.22e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186672
AA Change: G956D

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: G956D

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186954
AA Change: G956D

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

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: G956D

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1175	1194	N/A	INTRINSIC
internal_repeat_1	1202	1245	2.24e-5	PROSPERO
low complexity region	1274	1302	N/A	INTRINSIC
low complexity region	1304	1318	N/A	INTRINSIC
low complexity region	1335	1353	N/A	INTRINSIC
low complexity region	1355	1370	N/A	INTRINSIC
low complexity region	1414	1441	N/A	INTRINSIC
low complexity region	1452	1466	N/A	INTRINSIC
low complexity region	1504	1533	N/A	INTRINSIC
internal_repeat_1	1536	1579	2.24e-5	PROSPERO
internal_repeat_2	1537	1559	5.66e-5	PROSPERO
internal_repeat_2	1569	1589	5.66e-5	PROSPERO
low complexity region	1590	1607	N/A	INTRINSIC
low complexity region	1609	1627	N/A	INTRINSIC
low complexity region	1644	1678	N/A	INTRINSIC
low complexity region	1713	1726	N/A	INTRINSIC
low complexity region	1828	1840	N/A	INTRINSIC
HELICc	1916	1999	1.2e-28	SMART
low complexity region	2058	2078	N/A	INTRINSIC
coiled coil region	2166	2201	N/A	INTRINSIC
low complexity region	2282	2348	N/A	INTRINSIC
low complexity region	2374	2409	N/A	INTRINSIC
low complexity region	2588	2600	N/A	INTRINSIC
low complexity region	2642	2657	N/A	INTRINSIC
low complexity region	2685	2712	N/A	INTRINSIC
AT_hook	2745	2757	2.4e-2	SMART
low complexity region	2797	2817	N/A	INTRINSIC
AT_hook	2825	2837	2.6e-3	SMART
low complexity region	2838	2849	N/A	INTRINSIC
low complexity region	2858	2885	N/A	INTRINSIC
AT_hook	2889	2901	2.4e-3	SMART
low complexity region	2934	2945	N/A	INTRINSIC
low complexity region	2946	2956	N/A	INTRINSIC
low complexity region	3043	3079	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187040
AA Change: G956D

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

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: G956D

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC
low complexity region	1277	1305	N/A	INTRINSIC
low complexity region	1332	1351	N/A	INTRINSIC
internal_repeat_1	1359	1402	1.78e-5	PROSPERO
low complexity region	1431	1459	N/A	INTRINSIC
low complexity region	1461	1475	N/A	INTRINSIC
low complexity region	1492	1510	N/A	INTRINSIC
low complexity region	1512	1527	N/A	INTRINSIC
low complexity region	1571	1598	N/A	INTRINSIC
low complexity region	1609	1623	N/A	INTRINSIC
low complexity region	1661	1690	N/A	INTRINSIC
internal_repeat_1	1693	1736	1.78e-5	PROSPERO
internal_repeat_2	1694	1716	4.56e-5	PROSPERO
internal_repeat_2	1726	1746	4.56e-5	PROSPERO
low complexity region	1747	1764	N/A	INTRINSIC
low complexity region	1766	1784	N/A	INTRINSIC
low complexity region	1801	1835	N/A	INTRINSIC
low complexity region	1870	1883	N/A	INTRINSIC
low complexity region	1985	1997	N/A	INTRINSIC
HELICc	2073	2156	1.2e-28	SMART
low complexity region	2215	2235	N/A	INTRINSIC
coiled coil region	2323	2358	N/A	INTRINSIC
low complexity region	2439	2505	N/A	INTRINSIC
low complexity region	2531	2566	N/A	INTRINSIC
low complexity region	2745	2757	N/A	INTRINSIC
low complexity region	2799	2814	N/A	INTRINSIC
low complexity region	2842	2869	N/A	INTRINSIC
AT_hook	2902	2914	2.4e-2	SMART
low complexity region	2954	2974	N/A	INTRINSIC
AT_hook	2982	2994	2.6e-3	SMART
low complexity region	2995	3006	N/A	INTRINSIC
low complexity region	3015	3042	N/A	INTRINSIC
AT_hook	3046	3058	2.4e-3	SMART
low complexity region	3091	3102	N/A	INTRINSIC
low complexity region	3103	3113	N/A	INTRINSIC
low complexity region	3200	3236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187164

Predicted Effect

probably damaging
Transcript: ENSMUST00000189629
AA Change: G937D

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

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: G937D

Domain	Start	End	E-Value	Type
low complexity region	7	29	N/A	INTRINSIC
HSA	106	177	5.4e-25	SMART
low complexity region	238	261	N/A	INTRINSIC
low complexity region	264	291	N/A	INTRINSIC
low complexity region	303	328	N/A	INTRINSIC
low complexity region	377	401	N/A	INTRINSIC
low complexity region	461	539	N/A	INTRINSIC
low complexity region	558	573	N/A	INTRINSIC
DEXDc	607	799	5e-37	SMART
low complexity region	974	982	N/A	INTRINSIC
low complexity region	1008	1023	N/A	INTRINSIC
low complexity region	1027	1044	N/A	INTRINSIC
low complexity region	1156	1175	N/A	INTRINSIC
internal_repeat_1	1183	1226	2e-5	PROSPERO
low complexity region	1255	1283	N/A	INTRINSIC
low complexity region	1285	1299	N/A	INTRINSIC
low complexity region	1316	1334	N/A	INTRINSIC
low complexity region	1336	1351	N/A	INTRINSIC
low complexity region	1395	1422	N/A	INTRINSIC
low complexity region	1433	1447	N/A	INTRINSIC
low complexity region	1485	1514	N/A	INTRINSIC
internal_repeat_1	1517	1560	2e-5	PROSPERO
internal_repeat_2	1518	1540	5.08e-5	PROSPERO
internal_repeat_2	1550	1570	5.08e-5	PROSPERO
low complexity region	1571	1588	N/A	INTRINSIC
low complexity region	1590	1608	N/A	INTRINSIC
low complexity region	1625	1659	N/A	INTRINSIC
low complexity region	1694	1707	N/A	INTRINSIC
low complexity region	1809	1821	N/A	INTRINSIC
HELICc	1897	1980	1.2e-28	SMART
low complexity region	2039	2059	N/A	INTRINSIC
coiled coil region	2147	2182	N/A	INTRINSIC
low complexity region	2263	2329	N/A	INTRINSIC
low complexity region	2355	2390	N/A	INTRINSIC
low complexity region	2569	2581	N/A	INTRINSIC
low complexity region	2623	2638	N/A	INTRINSIC
low complexity region	2666	2693	N/A	INTRINSIC
AT_hook	2726	2738	2.4e-2	SMART
low complexity region	2778	2798	N/A	INTRINSIC
AT_hook	2806	2818	2.6e-3	SMART
low complexity region	2819	2830	N/A	INTRINSIC
low complexity region	2839	2866	N/A	INTRINSIC
AT_hook	2870	2882	2.4e-3	SMART
low complexity region	2915	2926	N/A	INTRINSIC
low complexity region	2927	2937	N/A	INTRINSIC
low complexity region	3024	3060	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189812

Predicted Effect

probably damaging
Transcript: ENSMUST00000190390
AA Change: G956D

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

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: G956D

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART
low complexity region	257	280	N/A	INTRINSIC
low complexity region	283	310	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	396	420	N/A	INTRINSIC
low complexity region	480	558	N/A	INTRINSIC
low complexity region	577	592	N/A	INTRINSIC
DEXDc	626	818	5e-37	SMART
low complexity region	993	1001	N/A	INTRINSIC
low complexity region	1027	1042	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC
low complexity region	1150	1178	N/A	INTRINSIC
low complexity region	1271	1290	N/A	INTRINSIC
internal_repeat_1	1298	1341	2.01e-5	PROSPERO
low complexity region	1370	1398	N/A	INTRINSIC
low complexity region	1400	1414	N/A	INTRINSIC
low complexity region	1431	1449	N/A	INTRINSIC
low complexity region	1451	1466	N/A	INTRINSIC
low complexity region	1510	1537	N/A	INTRINSIC
low complexity region	1548	1562	N/A	INTRINSIC
low complexity region	1600	1629	N/A	INTRINSIC
internal_repeat_1	1632	1675	2.01e-5	PROSPERO
internal_repeat_2	1633	1655	5.11e-5	PROSPERO
internal_repeat_2	1665	1685	5.11e-5	PROSPERO
low complexity region	1686	1703	N/A	INTRINSIC
low complexity region	1705	1723	N/A	INTRINSIC
low complexity region	1740	1774	N/A	INTRINSIC
low complexity region	1809	1822	N/A	INTRINSIC
low complexity region	1924	1936	N/A	INTRINSIC
HELICc	2012	2095	1.2e-28	SMART
low complexity region	2154	2174	N/A	INTRINSIC
coiled coil region	2262	2297	N/A	INTRINSIC
low complexity region	2378	2444	N/A	INTRINSIC
low complexity region	2470	2505	N/A	INTRINSIC
low complexity region	2684	2696	N/A	INTRINSIC
low complexity region	2738	2753	N/A	INTRINSIC
low complexity region	2781	2808	N/A	INTRINSIC
AT_hook	2841	2853	2.4e-2	SMART
low complexity region	2893	2913	N/A	INTRINSIC
AT_hook	2921	2933	2.6e-3	SMART
low complexity region	2934	2945	N/A	INTRINSIC
low complexity region	2954	2981	N/A	INTRINSIC
AT_hook	2985	2997	2.4e-3	SMART
low complexity region	3030	3041	N/A	INTRINSIC
low complexity region	3042	3052	N/A	INTRINSIC
low complexity region	3139	3175	N/A	INTRINSIC

Meta Mutation Damage Score

0.1739

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,039,706 (GRCm39)	F436L	probably damaging	Het
Adam28	G	T	14: 68,879,497 (GRCm39)	Q184K	probably benign	Het
Adh6a	A	G	3: 138,031,932 (GRCm39)	T275A	possibly damaging	Het
Agap2	A	G	10: 126,927,244 (GRCm39)	D1082G	possibly damaging	Het
Alox5	A	T	6: 116,400,150 (GRCm39)	V263E	probably damaging	Het
Arhgef16	C	T	4: 154,372,420 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc188	T	A	16: 18,036,159 (GRCm39)	H111Q	probably damaging	Het
Cd40	T	C	2: 164,911,615 (GRCm39)	F209S	possibly damaging	Het
Cfap43	C	A	19: 47,736,298 (GRCm39)	V1398L	probably benign	Het
Cln3	A	T	7: 126,174,565 (GRCm39)	I286N	possibly damaging	Het
Col9a1	T	C	1: 24,263,787 (GRCm39)		probably null	Het
Cpne9	A	G	6: 113,279,016 (GRCm39)	E470G	probably damaging	Het
Cul5	A	T	9: 53,534,171 (GRCm39)	W654R	probably damaging	Het
Cyp2a22	T	A	7: 26,638,634 (GRCm39)	K51*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dot1l	C	A	10: 80,622,016 (GRCm39)	S556*	probably null	Het
Eif3d	A	T	15: 77,851,516 (GRCm39)	M98K	probably benign	Het
Fiz1	A	G	7: 5,012,167 (GRCm39)	V117A	probably benign	Het
Fryl	A	G	5: 73,257,636 (GRCm39)	V722A	probably benign	Het
Ftdc1	G	A	16: 58,434,333 (GRCm39)	T128I	probably benign	Het
Gm3095	G	T	14: 3,964,471 (GRCm38)	R63I	probably benign	Het
Gm7133	A	T	1: 97,197,224 (GRCm39)		noncoding transcript	Het
Hoxb8	A	T	11: 96,175,286 (GRCm39)	D241V	probably benign	Het
Hrnr	A	G	3: 93,230,959 (GRCm39)	Q399R	unknown	Het
Itpk1	A	T	12: 102,572,434 (GRCm39)	V93D	probably damaging	Het
Kars1	C	T	8: 112,729,216 (GRCm39)	A164T	probably benign	Het
Kcnq4	A	T	4: 120,574,208 (GRCm39)	I150N	probably damaging	Het
Kcnrg	A	T	14: 61,849,176 (GRCm39)	L212F	probably damaging	Het
Kif5b	A	T	18: 6,216,759 (GRCm39)	D521E	probably benign	Het
Klf11	C	T	12: 24,705,071 (GRCm39)	T158M	probably damaging	Het
Klhl6	T	C	16: 19,776,034 (GRCm39)	I175V	probably benign	Het
Lsm1	A	G	8: 26,283,708 (GRCm39)	N40S	probably damaging	Het
Map1b	T	C	13: 99,567,576 (GRCm39)	E1715G	unknown	Het
Mecom	C	A	3: 30,292,459 (GRCm39)	A4S	probably benign	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Mug2	A	T	6: 122,013,255 (GRCm39)	I341L	probably benign	Het
Mxra7	A	T	11: 116,707,078 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,061,105 (GRCm39)	L537P	probably damaging	Het
Myo5b	A	T	18: 74,855,533 (GRCm39)	N1241Y	probably damaging	Het
Naa16	T	C	14: 79,582,497 (GRCm39)	R531G	probably damaging	Het
Neb	T	A	2: 52,134,087 (GRCm39)	M3299L	probably benign	Het
Nlrp4b	T	A	7: 10,453,130 (GRCm39)	Y76N	probably benign	Het
Nmral1	T	C	16: 4,534,205 (GRCm39)	T79A	probably damaging	Het
Noct	C	T	3: 51,155,300 (GRCm39)	Q23*	probably null	Het
Nrxn1	A	T	17: 90,344,509 (GRCm39)	V438D	probably damaging	Het
Or5b109	A	C	19: 13,212,132 (GRCm39)	N173H	possibly damaging	Het
Or5m9	T	A	2: 85,877,242 (GRCm39)	C139S	probably damaging	Het
Oxct2a	T	C	4: 123,216,836 (GRCm39)	T182A	probably benign	Het
Pank2	T	C	2: 131,115,945 (GRCm39)	I121T	probably damaging	Het
Pcdh1	T	A	18: 38,336,528 (GRCm39)	T36S	probably benign	Het
Pfdn1	A	T	18: 36,584,133 (GRCm39)	M67K	possibly damaging	Het
Plec	T	C	15: 76,058,456 (GRCm39)	E3849G	probably damaging	Het
Polr3a	A	T	14: 24,514,349 (GRCm39)	S817T	possibly damaging	Het
Pomgnt1	T	A	4: 116,012,707 (GRCm39)	D401E	probably damaging	Het
Ppp1r13b	T	A	12: 111,798,992 (GRCm39)	D891V	probably damaging	Het
Prr14l	A	G	5: 33,001,500 (GRCm39)		probably benign	Het
Ptk2b	A	G	14: 66,410,749 (GRCm39)		probably null	Het
Rab13	G	C	3: 90,128,330 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,382,255 (GRCm39)	A751T	probably benign	Het
Rfx1	T	C	8: 84,809,374 (GRCm39)	V233A	possibly damaging	Het
Rnf149	C	T	1: 39,616,295 (GRCm39)		probably benign	Het
Rrm1	A	G	7: 102,097,086 (GRCm39)	D122G	probably benign	Het
Serpina1b	A	G	12: 103,698,639 (GRCm39)	F70S	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh3rf3	T	C	10: 58,649,526 (GRCm39)	S44P	possibly damaging	Het
Shroom1	A	G	11: 53,356,549 (GRCm39)	T471A	possibly damaging	Het
Slc6a1	A	G	6: 114,279,792 (GRCm39)	Y152C	probably damaging	Het
Spata31f3	T	A	4: 42,873,032 (GRCm39)		probably null	Het
Spata6	A	T	4: 111,632,023 (GRCm39)	T145S	probably damaging	Het
Ssh2	A	T	11: 77,346,031 (GRCm39)	I1339F	possibly damaging	Het
Tardbp	A	T	4: 148,697,078 (GRCm39)	*99K	probably null	Het
Tbc1d22a	A	G	15: 86,196,037 (GRCm39)	Y336C	probably damaging	Het
Tmcc3	G	A	10: 94,381,419 (GRCm39)		probably benign	Het
Tmem178b	T	G	6: 40,222,547 (GRCm39)	D87E	probably benign	Het
Tmem184a	A	C	5: 139,791,377 (GRCm39)	S380A	probably benign	Het
Tnfaip2	A	G	12: 111,411,682 (GRCm39)	K84R	possibly damaging	Het
Tpgs1	A	G	10: 79,511,235 (GRCm39)	T126A	probably benign	Het
Traf3ip1	A	G	1: 91,447,834 (GRCm39)	E437G	possibly damaging	Het
Trpc4ap	C	T	2: 155,477,053 (GRCm39)	C755Y	probably damaging	Het
Tsfm	A	G	10: 126,866,547 (GRCm39)		probably benign	Het
Tulp1	A	C	17: 28,570,811 (GRCm39)		probably benign	Het
Vmn1r23	A	T	6: 57,903,010 (GRCm39)	M256K	probably benign	Het
Zdhhc8	T	C	16: 18,044,605 (GRCm39)	D305G	probably damaging	Het
Zfp326	G	A	5: 106,054,942 (GRCm39)	R282H	probably damaging	Het

Other mutations in Srcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Srcap	APN	7	127,141,885 (GRCm39)	splice site	probably benign
IGL00475:Srcap	APN	7	127,152,093 (GRCm39)	missense	possibly damaging	0.92
IGL01064:Srcap	APN	7	127,159,064 (GRCm39)	unclassified	probably benign
IGL01129:Srcap	APN	7	127,120,823 (GRCm39)	missense	probably damaging	1.00
IGL01670:Srcap	APN	7	127,127,604 (GRCm39)	missense	probably damaging	1.00
IGL01861:Srcap	APN	7	127,124,457 (GRCm39)	splice site	probably benign
IGL02237:Srcap	APN	7	127,133,864 (GRCm39)	splice site	probably benign
IGL02665:Srcap	APN	7	127,140,075 (GRCm39)	missense	probably damaging	1.00
IGL02688:Srcap	APN	7	127,141,625 (GRCm39)	missense	probably benign	0.04
IGL02744:Srcap	APN	7	127,133,838 (GRCm39)	missense	probably damaging	1.00
IGL02810:Srcap	APN	7	127,120,835 (GRCm39)	critical splice donor site	probably null
IGL03184:Srcap	APN	7	127,129,674 (GRCm39)	unclassified	probably benign
IGL03309:Srcap	APN	7	127,129,965 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Srcap	UTSW	7	127,148,492 (GRCm39)	missense	possibly damaging	0.52
R1340:Srcap	UTSW	7	127,159,910 (GRCm39)	intron	probably benign
R1401:Srcap	UTSW	7	127,159,124 (GRCm39)	unclassified	probably benign
R1455:Srcap	UTSW	7	127,129,822 (GRCm39)	missense	probably damaging	0.99
R1470:Srcap	UTSW	7	127,158,899 (GRCm39)	unclassified	probably benign
R1470:Srcap	UTSW	7	127,158,899 (GRCm39)	unclassified	probably benign
R1761:Srcap	UTSW	7	127,134,017 (GRCm39)	missense	probably damaging	1.00
R1911:Srcap	UTSW	7	127,133,994 (GRCm39)	missense	probably damaging	0.99
R2483:Srcap	UTSW	7	127,141,319 (GRCm39)	missense	probably damaging	0.99
R2892:Srcap	UTSW	7	127,138,237 (GRCm39)	missense	probably damaging	0.99
R2893:Srcap	UTSW	7	127,138,237 (GRCm39)	missense	probably damaging	0.99
R3623:Srcap	UTSW	7	127,141,319 (GRCm39)	missense	probably damaging	0.99
R3976:Srcap	UTSW	7	127,148,411 (GRCm39)	missense	probably benign	0.18
R4001:Srcap	UTSW	7	127,131,339 (GRCm39)	missense	probably damaging	1.00
R4015:Srcap	UTSW	7	127,124,595 (GRCm39)	missense	probably benign	0.27
R4581:Srcap	UTSW	7	127,157,482 (GRCm39)	unclassified	probably benign
R4643:Srcap	UTSW	7	127,140,948 (GRCm39)	missense	probably damaging	1.00
R4644:Srcap	UTSW	7	127,151,770 (GRCm39)	missense	probably damaging	1.00
R4693:Srcap	UTSW	7	127,137,716 (GRCm39)	missense	probably damaging	1.00
R4719:Srcap	UTSW	7	127,140,731 (GRCm39)	missense	probably benign	0.13
R4728:Srcap	UTSW	7	127,140,096 (GRCm39)	critical splice donor site	probably null
R4740:Srcap	UTSW	7	127,148,471 (GRCm39)	missense	probably damaging	1.00
R4752:Srcap	UTSW	7	127,158,172 (GRCm39)	unclassified	probably benign
R4834:Srcap	UTSW	7	127,156,782 (GRCm39)	critical splice donor site	probably null
R4837:Srcap	UTSW	7	127,158,134 (GRCm39)	unclassified	probably benign
R4884:Srcap	UTSW	7	127,121,189 (GRCm39)	missense	probably damaging	1.00
R4889:Srcap	UTSW	7	127,137,719 (GRCm39)	missense	possibly damaging	0.94
R5088:Srcap	UTSW	7	127,140,833 (GRCm39)	missense	probably benign	0.02
R5102:Srcap	UTSW	7	127,129,795 (GRCm39)	missense	probably damaging	1.00
R5358:Srcap	UTSW	7	127,139,492 (GRCm39)	missense	probably damaging	1.00
R5372:Srcap	UTSW	7	127,156,785 (GRCm39)	splice site	probably null
R5397:Srcap	UTSW	7	127,152,468 (GRCm39)	critical splice donor site	probably null
R5481:Srcap	UTSW	7	127,131,369 (GRCm39)	missense	probably damaging	1.00
R5566:Srcap	UTSW	7	127,124,475 (GRCm39)	missense	probably damaging	0.99
R5584:Srcap	UTSW	7	127,127,651 (GRCm39)	missense	probably damaging	1.00
R5693:Srcap	UTSW	7	127,118,988 (GRCm39)	missense	probably damaging	1.00
R5769:Srcap	UTSW	7	127,158,994 (GRCm39)	unclassified	probably benign
R5805:Srcap	UTSW	7	127,141,211 (GRCm39)	missense	possibly damaging	0.87
R5806:Srcap	UTSW	7	127,158,335 (GRCm39)	unclassified	probably benign
R5921:Srcap	UTSW	7	127,158,005 (GRCm39)	unclassified	probably benign
R5942:Srcap	UTSW	7	127,137,180 (GRCm39)	missense	probably damaging	1.00
R6014:Srcap	UTSW	7	127,137,922 (GRCm39)	missense	probably benign	0.01
R6057:Srcap	UTSW	7	127,140,528 (GRCm39)	missense	probably damaging	0.99
R6113:Srcap	UTSW	7	127,159,453 (GRCm39)	unclassified	probably benign
R6150:Srcap	UTSW	7	127,134,000 (GRCm39)	missense	probably damaging	1.00
R6212:Srcap	UTSW	7	127,148,861 (GRCm39)	missense	probably damaging	1.00
R6299:Srcap	UTSW	7	127,129,626 (GRCm39)	unclassified	probably benign
R6437:Srcap	UTSW	7	127,127,722 (GRCm39)	splice site	probably null
R6492:Srcap	UTSW	7	127,121,317 (GRCm39)	nonsense	probably null
R6537:Srcap	UTSW	7	127,141,392 (GRCm39)	missense	probably damaging	0.97
R6659:Srcap	UTSW	7	127,141,563 (GRCm39)	missense	probably damaging	1.00
R6713:Srcap	UTSW	7	127,134,089 (GRCm39)	missense	probably benign	0.28
R6717:Srcap	UTSW	7	127,157,482 (GRCm39)	unclassified	probably benign
R6941:Srcap	UTSW	7	127,141,769 (GRCm39)	missense	probably damaging	1.00
R7068:Srcap	UTSW	7	127,141,115 (GRCm39)	missense	probably benign	0.00
R7097:Srcap	UTSW	7	127,138,213 (GRCm39)	missense	probably damaging	1.00
R7394:Srcap	UTSW	7	127,134,000 (GRCm39)	missense	probably damaging	1.00
R7426:Srcap	UTSW	7	127,137,689 (GRCm39)	missense	possibly damaging	0.90
R7434:Srcap	UTSW	7	127,159,414 (GRCm39)	missense	unknown
R7559:Srcap	UTSW	7	127,129,722 (GRCm39)	missense	unknown
R7638:Srcap	UTSW	7	127,137,920 (GRCm39)	missense	probably benign	0.39
R7677:Srcap	UTSW	7	127,158,980 (GRCm39)	missense	unknown
R7715:Srcap	UTSW	7	127,148,460 (GRCm39)	missense	probably damaging	0.99
R7757:Srcap	UTSW	7	127,129,966 (GRCm39)	missense	probably damaging	0.99
R7811:Srcap	UTSW	7	127,141,221 (GRCm39)	missense	probably damaging	0.97
R7821:Srcap	UTSW	7	127,129,499 (GRCm39)	unclassified	probably benign
R7869:Srcap	UTSW	7	127,138,366 (GRCm39)	missense	possibly damaging	0.92
R7870:Srcap	UTSW	7	127,159,730 (GRCm39)	missense	unknown
R7941:Srcap	UTSW	7	127,157,462 (GRCm39)	unclassified	probably benign
R7994:Srcap	UTSW	7	127,140,930 (GRCm39)	missense	probably benign	0.00
R8035:Srcap	UTSW	7	127,141,784 (GRCm39)	missense	probably benign	0.05
R8066:Srcap	UTSW	7	127,120,804 (GRCm39)	missense	probably damaging	1.00
R8066:Srcap	UTSW	7	127,139,484 (GRCm39)	missense	possibly damaging	0.74
R8168:Srcap	UTSW	7	127,141,695 (GRCm39)	missense	probably damaging	1.00
R8194:Srcap	UTSW	7	127,138,369 (GRCm39)	missense	probably damaging	1.00
R8288:Srcap	UTSW	7	127,130,528 (GRCm39)	missense	probably damaging	1.00
R8307:Srcap	UTSW	7	127,124,541 (GRCm39)	missense	probably damaging	1.00
R8308:Srcap	UTSW	7	127,152,353 (GRCm39)	missense	possibly damaging	0.82
R8309:Srcap	UTSW	7	127,148,529 (GRCm39)	missense	probably damaging	0.98
R8311:Srcap	UTSW	7	127,156,969 (GRCm39)	missense	probably damaging	0.99
R8321:Srcap	UTSW	7	127,140,068 (GRCm39)	missense	probably damaging	1.00
R8365:Srcap	UTSW	7	127,148,869 (GRCm39)	missense	probably damaging	1.00
R8424:Srcap	UTSW	7	127,141,560 (GRCm39)	missense	probably benign	0.00
R8815:Srcap	UTSW	7	127,158,037 (GRCm39)	missense	unknown
R8817:Srcap	UTSW	7	127,152,395 (GRCm39)	missense	probably benign	0.23
R8924:Srcap	UTSW	7	127,158,204 (GRCm39)	missense	unknown
R8933:Srcap	UTSW	7	127,151,566 (GRCm39)	missense	probably damaging	1.00
R8961:Srcap	UTSW	7	127,141,101 (GRCm39)	missense	probably damaging	1.00
R9000:Srcap	UTSW	7	127,130,943 (GRCm39)	missense	possibly damaging	0.91
R9098:Srcap	UTSW	7	127,151,816 (GRCm39)	missense	probably damaging	0.99
R9124:Srcap	UTSW	7	127,159,874 (GRCm39)	missense	unknown
R9163:Srcap	UTSW	7	127,121,162 (GRCm39)	missense	unknown
R9332:Srcap	UTSW	7	127,158,812 (GRCm39)	missense	unknown
R9389:Srcap	UTSW	7	127,141,455 (GRCm39)	missense	probably damaging	1.00
R9464:Srcap	UTSW	7	127,137,273 (GRCm39)	missense	possibly damaging	0.95
R9467:Srcap	UTSW	7	127,139,531 (GRCm39)	missense	probably damaging	0.98
R9554:Srcap	UTSW	7	127,151,577 (GRCm39)	missense	probably damaging	1.00
R9596:Srcap	UTSW	7	127,131,036 (GRCm39)	missense	probably damaging	1.00
R9597:Srcap	UTSW	7	127,121,219 (GRCm39)	missense	possibly damaging	0.91
X0025:Srcap	UTSW	7	127,159,277 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGTTGTTCTGTCATTAAAGGTG -3'
(R):5'- CTTTAAGCATGTACCTGTTGACC -3'

Sequencing Primer
(F):5'- AATACTTTATCCTTTCTATGGGTTGC -3'
(R):5'- AAGCATGTACCTGTTGACCTTCATC -3'

Posted On

2015-10-21