Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Srcap'

436822

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, F630004O05Rik, B930091H02Rik

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127511983-127561219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127525303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 215 (F215S)

Ref Sequence

ENSEMBL: ENSMUSP00000140882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066582] [ENSMUST00000098025] [ENSMUST00000186672] [ENSMUST00000186954] [ENSMUST00000187040] [ENSMUST00000188124] [ENSMUST00000189136] [ENSMUST00000190390] [ENSMUST00000189629]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000066582
AA Change: F196S

SMART Domains

Protein: ENSMUSP00000063817
Gene: ENSMUSG00000053877
AA Change: F196S

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

noncoding transcript
Transcript: ENSMUST00000083325

Predicted Effect

probably benign
Transcript: ENSMUST00000098025

SMART Domains

Protein: ENSMUSP00000095635
Gene: ENSMUSG00000053877

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185401

Predicted Effect

unknown
Transcript: ENSMUST00000186672
AA Change: F215S

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: F215S

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

unknown
Transcript: ENSMUST00000186954
AA Change: F215S

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: F215S

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

unknown
Transcript: ENSMUST00000187040
AA Change: F215S

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: F215S

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: ENSMUST00000188124
AA Change: F215S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140882
Gene: ENSMUSG00000053877
AA Change: F215S

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	419	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189136

SMART Domains

Protein: ENSMUSP00000141098
Gene: ENSMUSG00000053877

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
HSA	125	196	5.4e-25	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000190390
AA Change: F215S

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: F215S

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

Predicted Effect

unknown
Transcript: ENSMUST00000189629
AA Change: F196S

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: F196S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455		probably null	Het
Adh4	A	T	3: 138,424,189	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648	D280G	probably benign	Het
Baiap3	T	C	17: 25,251,733	E71G	probably damaging	Het
BC030867	T	A	11: 102,255,833	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523		probably null	Het
Csmd2	T	C	4: 128,462,889		probably null	Het
Ctps	A	T	4: 120,554,103		probably null	Het
Cyp39a1	T	A	17: 43,685,208	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569	E158*	probably null	Het
Edar	A	G	10: 58,628,641	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766	C339*	probably null	Het
Eif5b	G	A	1: 38,045,684	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,051,247	G1169E	probably damaging	Het
Erap1	A	G	13: 74,662,412	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,810,924	V338M	probably damaging	Het
Gabra6	T	C	11: 42,307,490	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754	Y167*	probably null	Het
Htt	T	C	5: 34,849,075	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164	Q4592R	probably damaging	Het
Map3k5	T	C	10: 20,110,719	V893A	probably damaging	Het
Med13l	G	T	5: 118,728,665	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603	T362I	possibly damaging	Het
Sos1	C	T	17: 80,453,890	V126I	possibly damaging	Het
Supt4a	T	A	11: 87,743,287	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050	E300*	probably null	Het
Xdh	T	C	17: 73,893,622	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824	E285G	probably damaging	Het

Other mutations in Srcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Srcap	APN	7	127542713	splice site	probably benign
IGL00475:Srcap	APN	7	127552921	missense	possibly damaging	0.92
IGL01064:Srcap	APN	7	127559892	unclassified	probably benign
IGL01129:Srcap	APN	7	127521651	missense	probably damaging	1.00
IGL01670:Srcap	APN	7	127528432	missense	probably damaging	1.00
IGL01861:Srcap	APN	7	127525285	splice site	probably benign
IGL02237:Srcap	APN	7	127534692	splice site	probably benign
IGL02665:Srcap	APN	7	127540903	missense	probably damaging	1.00
IGL02688:Srcap	APN	7	127542453	missense	probably benign	0.04
IGL02744:Srcap	APN	7	127534666	missense	probably damaging	1.00
IGL02810:Srcap	APN	7	127521663	critical splice donor site	probably null
IGL03184:Srcap	APN	7	127530502	unclassified	probably benign
IGL03309:Srcap	APN	7	127530793	missense	probably damaging	0.99
PIT4453001:Srcap	UTSW	7	127549320	missense	possibly damaging	0.52
R1340:Srcap	UTSW	7	127560738	intron	probably benign
R1401:Srcap	UTSW	7	127559952	unclassified	probably benign
R1455:Srcap	UTSW	7	127530650	missense	probably damaging	0.99
R1470:Srcap	UTSW	7	127559727	unclassified	probably benign
R1470:Srcap	UTSW	7	127559727	unclassified	probably benign
R1761:Srcap	UTSW	7	127534845	missense	probably damaging	1.00
R1911:Srcap	UTSW	7	127534822	missense	probably damaging	0.99
R2483:Srcap	UTSW	7	127542147	missense	probably damaging	0.99
R2892:Srcap	UTSW	7	127539065	missense	probably damaging	0.99
R2893:Srcap	UTSW	7	127539065	missense	probably damaging	0.99
R3623:Srcap	UTSW	7	127542147	missense	probably damaging	0.99
R3976:Srcap	UTSW	7	127549239	missense	probably benign	0.18
R4001:Srcap	UTSW	7	127532167	missense	probably damaging	1.00
R4015:Srcap	UTSW	7	127525423	missense	probably benign	0.27
R4581:Srcap	UTSW	7	127558310	unclassified	probably benign
R4643:Srcap	UTSW	7	127541776	missense	probably damaging	1.00
R4644:Srcap	UTSW	7	127552598	missense	probably damaging	1.00
R4690:Srcap	UTSW	7	127538014	missense	probably damaging	1.00
R4693:Srcap	UTSW	7	127538544	missense	probably damaging	1.00
R4719:Srcap	UTSW	7	127541559	missense	probably benign	0.13
R4728:Srcap	UTSW	7	127540924	critical splice donor site	probably null
R4740:Srcap	UTSW	7	127549299	missense	probably damaging	1.00
R4752:Srcap	UTSW	7	127559000	unclassified	probably benign
R4834:Srcap	UTSW	7	127557610	critical splice donor site	probably null
R4837:Srcap	UTSW	7	127558962	unclassified	probably benign
R4884:Srcap	UTSW	7	127522017	missense	probably damaging	1.00
R4889:Srcap	UTSW	7	127538547	missense	possibly damaging	0.94
R5088:Srcap	UTSW	7	127541661	missense	probably benign	0.02
R5102:Srcap	UTSW	7	127530623	missense	probably damaging	1.00
R5358:Srcap	UTSW	7	127540320	missense	probably damaging	1.00
R5372:Srcap	UTSW	7	127557613	splice site	probably null
R5397:Srcap	UTSW	7	127553296	critical splice donor site	probably null
R5481:Srcap	UTSW	7	127532197	missense	probably damaging	1.00
R5584:Srcap	UTSW	7	127528479	missense	probably damaging	1.00
R5693:Srcap	UTSW	7	127519816	missense	probably damaging	1.00
R5769:Srcap	UTSW	7	127559822	unclassified	probably benign
R5805:Srcap	UTSW	7	127542039	missense	possibly damaging	0.87
R5806:Srcap	UTSW	7	127559163	unclassified	probably benign
R5921:Srcap	UTSW	7	127558833	unclassified	probably benign
R5942:Srcap	UTSW	7	127538008	missense	probably damaging	1.00
R6014:Srcap	UTSW	7	127538750	missense	probably benign	0.01
R6057:Srcap	UTSW	7	127541356	missense	probably damaging	0.99
R6113:Srcap	UTSW	7	127560281	unclassified	probably benign
R6150:Srcap	UTSW	7	127534828	missense	probably damaging	1.00
R6212:Srcap	UTSW	7	127549689	missense	probably damaging	1.00
R6299:Srcap	UTSW	7	127530454	unclassified	probably benign
R6437:Srcap	UTSW	7	127528550	splice site	probably null
R6492:Srcap	UTSW	7	127522145	nonsense	probably null
R6537:Srcap	UTSW	7	127542220	missense	probably damaging	0.97
R6659:Srcap	UTSW	7	127542391	missense	probably damaging	1.00
R6713:Srcap	UTSW	7	127534917	missense	probably benign	0.28
R6717:Srcap	UTSW	7	127558310	unclassified	probably benign
R6941:Srcap	UTSW	7	127542597	missense	probably damaging	1.00
R7068:Srcap	UTSW	7	127541943	missense	probably benign	0.00
R7097:Srcap	UTSW	7	127539041	missense	probably damaging	1.00
R7394:Srcap	UTSW	7	127534828	missense	probably damaging	1.00
R7426:Srcap	UTSW	7	127538517	missense	possibly damaging	0.90
R7434:Srcap	UTSW	7	127560242	missense	unknown
R7559:Srcap	UTSW	7	127530550	missense	unknown
R7638:Srcap	UTSW	7	127538748	missense	probably benign	0.39
R7677:Srcap	UTSW	7	127559808	missense	unknown
R7715:Srcap	UTSW	7	127549288	missense	probably damaging	0.99
R7757:Srcap	UTSW	7	127530794	missense	probably damaging	0.99
R7811:Srcap	UTSW	7	127542049	missense	probably damaging	0.97
R7821:Srcap	UTSW	7	127530327	unclassified	probably benign
R7869:Srcap	UTSW	7	127539194	missense	possibly damaging	0.92
R7870:Srcap	UTSW	7	127560558	missense	unknown
R7941:Srcap	UTSW	7	127558290	unclassified	probably benign
R7994:Srcap	UTSW	7	127541758	missense	probably benign	0.00
R8035:Srcap	UTSW	7	127542612	missense	probably benign	0.05
R8066:Srcap	UTSW	7	127521632	missense	probably damaging	1.00
R8066:Srcap	UTSW	7	127540312	missense	possibly damaging	0.74
R8168:Srcap	UTSW	7	127542523	missense	probably damaging	1.00
R8194:Srcap	UTSW	7	127539197	missense	probably damaging	1.00
R8288:Srcap	UTSW	7	127531356	missense	probably damaging	1.00
R8307:Srcap	UTSW	7	127525369	missense	probably damaging	1.00
R8308:Srcap	UTSW	7	127553181	missense	possibly damaging	0.82
R8309:Srcap	UTSW	7	127549357	missense	probably damaging	0.98
R8311:Srcap	UTSW	7	127557797	missense	probably damaging	0.99
R8321:Srcap	UTSW	7	127540896	missense	probably damaging	1.00
R8365:Srcap	UTSW	7	127549697	missense	probably damaging	1.00
R8424:Srcap	UTSW	7	127542388	missense	probably benign	0.00
R8815:Srcap	UTSW	7	127558865	missense	unknown
R8817:Srcap	UTSW	7	127553223	missense	probably benign	0.23
R8924:Srcap	UTSW	7	127559032	missense	unknown
R8933:Srcap	UTSW	7	127552394	missense	probably damaging	1.00
R8961:Srcap	UTSW	7	127541929	missense	probably damaging	1.00
R9000:Srcap	UTSW	7	127531771	missense	possibly damaging	0.91
R9098:Srcap	UTSW	7	127552644	missense	probably damaging	0.99
R9124:Srcap	UTSW	7	127560702	missense	unknown
R9163:Srcap	UTSW	7	127521990	missense	unknown
R9332:Srcap	UTSW	7	127559640	missense	unknown
R9389:Srcap	UTSW	7	127542283	missense	probably damaging	1.00
R9464:Srcap	UTSW	7	127538101	missense	possibly damaging	0.95
R9467:Srcap	UTSW	7	127540359	missense	probably damaging	0.98
R9554:Srcap	UTSW	7	127552405	missense	probably damaging	1.00
R9596:Srcap	UTSW	7	127531864	missense	probably damaging	1.00
R9597:Srcap	UTSW	7	127522047	missense	possibly damaging	0.91
X0025:Srcap	UTSW	7	127560105	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCTCCAGCTCCTAGATACTAAG -3'
(R):5'- GATGCTGCTGAGGAAGAACC -3'

Sequencing Primer
(F):5'- CAGCTCCTAGATACTAAGTTGATACC -3'
(R):5'- CTGCTGAGGAAGAACCAAGGC -3'

Posted On

2016-10-24