Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Srcap'

590065

Institutional Source

Beutler Lab

Gene Symbol

Srcap

Ensembl Gene

ENSMUSG00000053877

Gene Name

Snf2-related CREBBP activator protein

Synonyms

D030022P06Rik, F630004O05Rik, B930091H02Rik

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127511983-127561219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127538748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1090 (N1090S)

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

probably benign
Transcript: ENSMUST00000186672
AA Change: N1090S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140395
Gene: ENSMUSG00000053877
AA Change: N1090S

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: N1090S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139536
Gene: ENSMUSG00000053877
AA Change: N1090S

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 benign
Transcript: ENSMUST00000187040
AA Change: N1090S

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140036
Gene: ENSMUSG00000053877
AA Change: N1090S

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: N1071S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000139644
Gene: ENSMUSG00000107023
AA Change: N1071S

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

probably benign
Transcript: ENSMUST00000190390
AA Change: N1090S

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139399
Gene: ENSMUSG00000053877
AA Change: N1090S

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

0.0711

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm20	A	C	19: 53,814,333	D424A	possibly damaging	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	possibly 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
R5566:Srcap	UTSW	7	127525303	missense	probably damaging	0.99
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
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'- TAGAATGCTGCAGCCAGTG -3'
(R):5'- ACAAACACCTTAGCTGGGC -3'

Sequencing Primer
(F):5'- TGGTGGTGAACAGCCCAC -3'
(R):5'- ACCTTAGCTGGGCTGAAAAGTCTC -3'

Posted On

2019-10-24