Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Srcap'

576083

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, B930091H02Rik, F630004O05Rik

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7426 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

127111155-127160391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127137689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1013 (V1013A)

Ref Sequence

ENSEMBL: ENSMUSP00000140036 (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

possibly damaging
Transcript: ENSMUST00000186672
AA Change: V1013A

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: V1013A

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 benign
Transcript: ENSMUST00000186954
AA Change: V1013A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: V1013A

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

possibly damaging
Transcript: ENSMUST00000187040
AA Change: V1013A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: V1013A

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

probably benign
Transcript: ENSMUST00000189629
AA Change: V994A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: V994A

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

possibly damaging
Transcript: ENSMUST00000190390
AA Change: V1013A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: V1013A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,945,221 (GRCm39)	N432K	possibly damaging	Het
Abitram	A	G	4: 56,804,230 (GRCm39)	I82V	probably null	Het
Adamtsl5	G	A	10: 80,180,693 (GRCm39)	T123I	probably benign	Het
Aff4	T	C	11: 53,263,702 (GRCm39)	S241P	probably damaging	Het
Agl	A	G	3: 116,552,404 (GRCm39)	L510P		Het
Aox1	A	T	1: 58,329,142 (GRCm39)	K196*	probably null	Het
Arhgef37	A	G	18: 61,637,456 (GRCm39)	L402P	probably damaging	Het
Arid4b	T	C	13: 14,355,891 (GRCm39)		probably null	Het
Atp5pb	A	G	3: 105,851,118 (GRCm39)	V193A	probably benign	Het
Atp8b3	A	G	10: 80,365,463 (GRCm39)		probably null	Het
Baz2a	G	T	10: 127,951,947 (GRCm39)	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345 (GRCm39)	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,819,128 (GRCm39)	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,368,428 (GRCm39)	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,704,159 (GRCm39)	F70S	probably damaging	Het
Cep162	C	T	9: 87,074,819 (GRCm39)	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,959,585 (GRCm39)	V855A	possibly damaging	Het
Chil3	G	T	3: 106,063,022 (GRCm39)	D189E	probably benign	Het
Cln3	A	G	7: 126,180,912 (GRCm39)	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,370,110 (GRCm39)	Q909R	probably benign	Het
Ctsd	C	A	7: 141,937,278 (GRCm39)	A77S	probably damaging	Het
Dnah12	T	A	14: 26,445,781 (GRCm39)	S781T	probably benign	Het
Dnah17	T	A	11: 117,981,543 (GRCm39)	Q1716L	probably null	Het
Dock3	C	A	9: 106,772,782 (GRCm39)	M490I	probably benign	Het
Erg	T	C	16: 95,260,015 (GRCm39)		probably null	Het
Farp2	A	T	1: 93,548,950 (GRCm39)	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 27,785,949 (GRCm39)	K462R	probably benign	Het
Fn1	A	T	1: 71,688,384 (GRCm39)	N173K	probably damaging	Het
Fsip2	A	T	2: 82,810,441 (GRCm39)	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,469,970 (GRCm39)	R413H	possibly damaging	Het
Galnt5	A	T	2: 57,907,151 (GRCm39)	D538V	probably damaging	Het
Gje1	T	A	10: 14,592,223 (GRCm39)	L186F	probably damaging	Het
Gm16686	A	T	4: 88,673,563 (GRCm39)	C89S	unknown	Het
Gna15	G	T	10: 81,338,831 (GRCm39)	A336E	probably benign	Het
Golga4	C	T	9: 118,388,563 (GRCm39)	S1895L	probably benign	Het
Gon4l	A	T	3: 88,814,829 (GRCm39)	M1933L	probably benign	Het
Gpr183	T	C	14: 122,192,156 (GRCm39)	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,980,250 (GRCm39)	T348I	probably damaging	Het
Hace1	T	C	10: 45,481,636 (GRCm39)	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,007,061 (GRCm39)	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,156,232 (GRCm39)	F66S	probably benign	Het
Hoxd12	A	T	2: 74,505,569 (GRCm39)	S47C	possibly damaging	Het
Hp	C	A	8: 110,301,832 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,508,492 (GRCm39)	D355E	probably benign	Het
Itga2b	A	T	11: 102,347,120 (GRCm39)	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529 (GRCm39)	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,523,571 (GRCm39)	T249S	probably benign	Het
Klhl11	G	T	11: 100,355,178 (GRCm39)	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,131,705 (GRCm39)	Y76N	probably damaging	Het
Lama4	G	T	10: 38,921,751 (GRCm39)	R424L	possibly damaging	Het
Lepr	A	G	4: 101,602,853 (GRCm39)	I214V	probably benign	Het
Lipc	G	T	9: 70,709,450 (GRCm39)	N432K	probably benign	Het
Lipm	C	T	19: 34,093,598 (GRCm39)	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,756,088 (GRCm39)	S2P	unknown	Het
Lyst	T	A	13: 13,812,109 (GRCm39)	D840E	probably benign	Het
Mmp23	T	A	4: 155,736,041 (GRCm39)	T204S	probably damaging	Het
Mms19	T	C	19: 41,936,717 (GRCm39)	T785A	probably benign	Het
Mov10	A	T	3: 104,707,368 (GRCm39)		probably null	Het
Mtf2	A	G	5: 108,248,836 (GRCm39)	T383A	probably benign	Het
Myo5c	G	A	9: 75,158,809 (GRCm39)		probably null	Het
Nfxl1	A	T	5: 72,681,517 (GRCm39)	C671*	probably null	Het
Npepps	A	G	11: 97,103,982 (GRCm39)	V813A	probably benign	Het
Nrn1	C	A	13: 36,910,825 (GRCm39)	W69L	probably damaging	Het
Oprd1	A	C	4: 131,841,378 (GRCm39)	D193E	probably benign	Het
Or2ag1b	T	A	7: 106,288,417 (GRCm39)	I174F	possibly damaging	Het
Or52p1	C	T	7: 104,267,059 (GRCm39)	H58Y	probably damaging	Het
Or55b3	A	T	7: 102,126,883 (GRCm39)	Y65N	probably damaging	Het
Or56b2j	T	A	7: 104,352,796 (GRCm39)	D7E	probably benign	Het
Or6c202	A	G	10: 128,996,620 (GRCm39)	Y78H	possibly damaging	Het
Or6c209	T	C	10: 129,483,027 (GRCm39)	I10T	probably damaging	Het
Or6k6	A	C	1: 173,944,753 (GRCm39)	F276L	probably benign	Het
Pcdhac1	G	T	18: 37,225,550 (GRCm39)	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,556,313 (GRCm39)	V548M	probably damaging	Het
Pde4c	A	T	8: 71,201,621 (GRCm39)	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,022,086 (GRCm39)	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 115,972,089 (GRCm39)	K780N	probably damaging	Het
Plb1	T	G	5: 32,478,591 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,842,139 (GRCm39)	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,566,540 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,063,826 (GRCm39)	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,246,305 (GRCm39)	A132T	probably damaging	Het
Prl2c2	A	C	13: 13,172,065 (GRCm39)		probably null	Het
Prr14	T	C	7: 127,074,458 (GRCm39)	I330T	probably benign	Het
Pycr1	T	C	11: 120,533,749 (GRCm39)	D36G	probably benign	Het
Rabep2	T	A	7: 126,037,891 (GRCm39)	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469 (GRCm39)	D165G	probably benign	Het
Reln	G	A	5: 22,176,951 (GRCm39)	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,878,188 (GRCm39)	V321A	probably benign	Het
Rnf43	A	G	11: 87,622,678 (GRCm39)	D466G	probably benign	Het
Rpl6	A	T	5: 121,343,655 (GRCm39)	R63W	possibly damaging	Het
S100a14	A	G	3: 90,435,511 (GRCm39)	T102A	probably benign	Het
Samd11	C	A	4: 156,333,857 (GRCm39)	V195L	probably benign	Het
Scaper	G	A	9: 55,669,561 (GRCm39)	Q372*	probably null	Het
Sec14l5	G	T	16: 4,998,739 (GRCm39)	C593F	probably damaging	Het
Sema6d	T	C	2: 124,496,078 (GRCm39)	Y41H	probably damaging	Het
Serac1	G	A	17: 6,119,589 (GRCm39)	R114W	probably damaging	Het
Slc12a4	T	C	8: 106,677,468 (GRCm39)	E388G	probably benign	Het
Smarcd3	T	C	5: 24,800,810 (GRCm39)	T164A	probably benign	Het
Smtn	C	A	11: 3,480,249 (GRCm39)	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,183,175 (GRCm39)	P239L	probably benign	Het
Sv2b	T	C	7: 74,773,812 (GRCm39)	N553S	probably damaging	Het
Tex35	T	A	1: 156,932,656 (GRCm39)	N52I	probably damaging	Het
Ticrr	T	C	7: 79,343,734 (GRCm39)	S1200P	probably benign	Het
Tmem19	A	G	10: 115,183,604 (GRCm39)	L125P	probably damaging	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Ttn	T	C	2: 76,747,627 (GRCm39)	D4474G	probably benign	Het
Usp43	A	T	11: 67,783,842 (GRCm39)	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,348 (GRCm39)	M234L	probably benign	Het
Wdr93	T	A	7: 79,427,055 (GRCm39)		probably null	Het
Wrap73	T	A	4: 154,240,584 (GRCm39)	W359R	probably damaging	Het
Ywhah	A	G	5: 33,183,985 (GRCm39)	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,288,366 (GRCm39)	P151T	probably damaging	Het
Zfp318	A	G	17: 46,710,995 (GRCm39)	N906S	probably damaging	Het
Zfp423	C	A	8: 88,507,341 (GRCm39)	C1001F	probably damaging	Het
Zmym1	A	G	4: 126,943,191 (GRCm39)	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,353,014 (GRCm39)	G296D	probably benign	Het
Znfx1	T	A	2: 166,890,475 (GRCm39)	I670F	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
R4690:Srcap	UTSW	7	127,137,186 (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
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'- CTGGAGAATTCTGGGAGGTAC -3'
(R):5'- CCGAGATGCAGGAACAACTG -3'

Sequencing Primer
(F):5'- AGGTACTCCTGTGTTGCTGG -3'
(R):5'- ACAACTGGTGTTCCGGCAG -3'

Posted On

2019-10-07