Mutagenetix > Incidental Mutation

Incidental Mutation 'R1783:Shank1'

195727

Institutional Source

Beutler Lab

Gene Symbol

Shank1

Ensembl Gene

ENSMUSG00000038738

Gene Name

SH3 and multiple ankyrin repeat domains 1

Synonyms

MMRRC Submission

039814-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R1783 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

43959677-44009996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44002161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1293 (D1293E)

Ref Sequence

ENSEMBL: ENSMUSP00000103571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107934] [ENSMUST00000107935] [ENSMUST00000107938]

AlphaFold

D3YZU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107934
AA Change: D1284E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738
AA Change: D1284E

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
PDZ	663	752	2.12e-13	SMART
Blast:PDZ	795	830	5e-11	BLAST
low complexity region	920	941	N/A	INTRINSIC
low complexity region	955	982	N/A	INTRINSIC
low complexity region	993	1023	N/A	INTRINSIC
low complexity region	1051	1080	N/A	INTRINSIC
low complexity region	1123	1138	N/A	INTRINSIC
low complexity region	1162	1175	N/A	INTRINSIC
low complexity region	1179	1220	N/A	INTRINSIC
low complexity region	1256	1275	N/A	INTRINSIC
low complexity region	1298	1323	N/A	INTRINSIC
low complexity region	1348	1359	N/A	INTRINSIC
low complexity region	1369	1404	N/A	INTRINSIC
low complexity region	1450	1466	N/A	INTRINSIC
low complexity region	1512	1532	N/A	INTRINSIC
low complexity region	1539	1555	N/A	INTRINSIC
low complexity region	1557	1570	N/A	INTRINSIC
low complexity region	1580	1614	N/A	INTRINSIC
low complexity region	1633	1667	N/A	INTRINSIC
low complexity region	1685	1720	N/A	INTRINSIC
low complexity region	1735	1746	N/A	INTRINSIC
low complexity region	1776	1787	N/A	INTRINSIC
low complexity region	1806	1823	N/A	INTRINSIC
low complexity region	1834	1852	N/A	INTRINSIC
low complexity region	1893	1907	N/A	INTRINSIC
low complexity region	1925	1936	N/A	INTRINSIC
low complexity region	1942	1976	N/A	INTRINSIC
low complexity region	1988	2004	N/A	INTRINSIC
low complexity region	2009	2029	N/A	INTRINSIC
low complexity region	2059	2083	N/A	INTRINSIC
SAM	2092	2158	1.35e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107935
AA Change: D1285E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738
AA Change: D1285E

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
low complexity region	648	659	N/A	INTRINSIC
PDZ	672	761	2.12e-13	SMART
Blast:PDZ	796	831	1e-10	BLAST
low complexity region	921	942	N/A	INTRINSIC
low complexity region	956	983	N/A	INTRINSIC
low complexity region	994	1024	N/A	INTRINSIC
low complexity region	1052	1081	N/A	INTRINSIC
low complexity region	1124	1139	N/A	INTRINSIC
low complexity region	1163	1176	N/A	INTRINSIC
low complexity region	1180	1221	N/A	INTRINSIC
low complexity region	1257	1276	N/A	INTRINSIC
low complexity region	1299	1324	N/A	INTRINSIC
low complexity region	1349	1360	N/A	INTRINSIC
low complexity region	1370	1405	N/A	INTRINSIC
low complexity region	1451	1467	N/A	INTRINSIC
low complexity region	1513	1533	N/A	INTRINSIC
low complexity region	1540	1556	N/A	INTRINSIC
low complexity region	1558	1571	N/A	INTRINSIC
low complexity region	1581	1615	N/A	INTRINSIC
low complexity region	1634	1668	N/A	INTRINSIC
low complexity region	1686	1721	N/A	INTRINSIC
low complexity region	1736	1747	N/A	INTRINSIC
low complexity region	1777	1788	N/A	INTRINSIC
low complexity region	1807	1824	N/A	INTRINSIC
low complexity region	1835	1853	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	1926	1937	N/A	INTRINSIC
low complexity region	1943	1977	N/A	INTRINSIC
low complexity region	1989	2005	N/A	INTRINSIC
low complexity region	2010	2030	N/A	INTRINSIC
low complexity region	2060	2084	N/A	INTRINSIC
SAM	2093	2159	1.35e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107938
AA Change: D1293E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738
AA Change: D1293E

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
Pfam:FERM_f0	73	156	6.6e-17	PFAM
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
low complexity region	648	659	N/A	INTRINSIC
PDZ	672	761	2.12e-13	SMART
Blast:PDZ	804	839	5e-11	BLAST
low complexity region	929	950	N/A	INTRINSIC
low complexity region	964	991	N/A	INTRINSIC
low complexity region	1002	1032	N/A	INTRINSIC
low complexity region	1060	1089	N/A	INTRINSIC
low complexity region	1132	1147	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1188	1229	N/A	INTRINSIC
low complexity region	1265	1284	N/A	INTRINSIC
low complexity region	1307	1332	N/A	INTRINSIC
low complexity region	1357	1368	N/A	INTRINSIC
low complexity region	1378	1413	N/A	INTRINSIC
low complexity region	1459	1475	N/A	INTRINSIC
low complexity region	1521	1541	N/A	INTRINSIC
low complexity region	1548	1564	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC
low complexity region	1589	1623	N/A	INTRINSIC
low complexity region	1642	1676	N/A	INTRINSIC
low complexity region	1694	1729	N/A	INTRINSIC
low complexity region	1744	1755	N/A	INTRINSIC
low complexity region	1785	1796	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1843	1861	N/A	INTRINSIC
low complexity region	1902	1916	N/A	INTRINSIC
low complexity region	1934	1945	N/A	INTRINSIC
low complexity region	1951	1985	N/A	INTRINSIC
low complexity region	1997	2013	N/A	INTRINSIC
low complexity region	2018	2038	N/A	INTRINSIC
low complexity region	2068	2092	N/A	INTRINSIC
SAM	2101	2167	1.35e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154776

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 226 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,088,286 (GRCm39)	T307S	probably damaging	Het
4930590J08Rik	T	C	6: 91,896,259 (GRCm39)	I369T	possibly damaging	Het
Abhd17a	T	A	10: 80,419,860 (GRCm39)	I115F	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adgrb2	C	T	4: 129,903,098 (GRCm39)	T566I	possibly damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Aspm	A	G	1: 139,401,312 (GRCm39)	I1111V	probably benign	Het
Bbs9	T	C	9: 22,570,415 (GRCm39)	V587A	possibly damaging	Het
C4bp	C	G	1: 130,570,725 (GRCm39)	V284L	probably benign	Het
Cacna1s	T	C	1: 136,046,454 (GRCm39)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Capn8	T	C	1: 182,426,387 (GRCm39)	S241P	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Ccdc93	C	T	1: 121,383,855 (GRCm39)	P192L	probably benign	Het
Ccdc93	T	C	1: 121,389,668 (GRCm39)	V237A	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cdh19	C	A	1: 110,821,114 (GRCm39)	E541D	probably damaging	Het
Cdh20	C	G	1: 109,993,465 (GRCm39)	L307V	possibly damaging	Het
Cep350	A	C	1: 155,804,611 (GRCm39)	L824R	probably damaging	Het
Cfh	C	T	1: 140,075,435 (GRCm39)	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,741,180 (GRCm39)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,741,197 (GRCm39)	N259K	probably benign	Het
Chi3l1	C	T	1: 134,116,267 (GRCm39)	A250V	probably damaging	Het
Chit1	A	G	1: 134,077,132 (GRCm39)	R312G	possibly damaging	Het
Chit1	G	T	1: 134,077,133 (GRCm39)	R312I	probably benign	Het
Cntnap5a	C	T	1: 116,382,873 (GRCm39)	T1047I	probably benign	Het
Cntnap5a	T	C	1: 116,382,831 (GRCm39)	L1033S	probably benign	Het
Cntnap5a	C	A	1: 116,382,734 (GRCm39)	L1001I	probably benign	Het
Crb1	T	C	1: 139,162,517 (GRCm39)	M1214V	probably benign	Het
Crb1	C	T	1: 139,171,155 (GRCm39)	R684H	probably benign	Het
Crb1	C	T	1: 139,170,733 (GRCm39)	G825R	probably damaging	Het
Crb1	G	A	1: 139,168,876 (GRCm39)	P881S	probably damaging	Het
Crb1	A	T	1: 139,165,360 (GRCm39)	H921Q	probably benign	Het
Cxcr4	C	T	1: 128,517,014 (GRCm39)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,335,405 (GRCm39)	R147W	probably damaging	Het
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Dock10	T	G	1: 80,551,897 (GRCm39)	Y659S	probably benign	Het
Dsel	G	C	1: 111,787,724 (GRCm39)	T937S	probably benign	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dsg2	G	A	18: 20,724,937 (GRCm39)	V448I	probably benign	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
Efnb2	G	T	8: 8,673,237 (GRCm39)	T140K	probably damaging	Het
En1	A	G	1: 120,531,350 (GRCm39)	S197G	unknown	Het
Eogt	T	C	6: 97,090,825 (GRCm39)	D438G	probably damaging	Het
Etnk2	A	G	1: 133,291,661 (GRCm39)	S54G	probably benign	Het
Etnk2	G	T	1: 133,304,784 (GRCm39)	A336S	probably benign	Het
Etnk2	T	A	1: 133,304,653 (GRCm39)	V292E	probably benign	Het
Etnk2	G	A	1: 133,293,555 (GRCm39)	R166Q	probably benign	Het
Etnk2	C	T	1: 133,293,554 (GRCm39)	R166*	probably null	Het
Etnk2	C	A	1: 133,293,325 (GRCm39)	D89E	probably benign	Het
Etnk2	G	T	1: 133,293,503 (GRCm39)	G149W	probably damaging	Het
Etnppl	A	G	3: 130,414,398 (GRCm39)	T98A	probably damaging	Het
Fam131b	T	G	6: 42,295,514 (GRCm39)	Q221P	possibly damaging	Het
Fam72a	T	C	1: 131,458,406 (GRCm39)	I56T	probably benign	Het
Fam72a	C	T	1: 131,466,633 (GRCm39)	T139M	probably benign	Het
Fam90a1a	A	G	8: 22,453,479 (GRCm39)	N278S	probably benign	Het
Fbxo40	T	A	16: 36,786,584 (GRCm39)	M662L	probably damaging	Het
Fcamr	G	A	1: 130,740,366 (GRCm39)	G262S	probably benign	Het
Fcamr	A	G	1: 130,740,429 (GRCm39)	I283V	probably benign	Het
Fcamr	T	C	1: 130,740,475 (GRCm39)	V298A	probably benign	Het
Fcamr	A	G	1: 130,740,546 (GRCm39)	M322V	probably benign	Het
Fcamr	C	T	1: 130,740,553 (GRCm39)	P324L	probably benign	Het
Fcamr	A	G	1: 130,742,334 (GRCm39)	N574D	probably benign	Het
Fcamr	A	C	1: 130,732,364 (GRCm39)	N117T	probably benign	Het
Fcamr	A	G	1: 130,739,317 (GRCm39)	I206V	probably benign	Het
Fcmr	A	G	1: 130,803,711 (GRCm39)	T172A	probably benign	Het
Fcmr	T	C	1: 130,806,006 (GRCm39)	S321P	probably benign	Het
Fmo9	A	T	1: 166,501,217 (GRCm39)	F192L	probably benign	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gatad2a	G	T	8: 70,362,586 (GRCm39)	H600N	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Git2	T	C	5: 114,877,185 (GRCm39)	E99G	probably damaging	Het
Gli2	G	T	1: 118,929,774 (GRCm39)	H44Q	probably benign	Het
Gli2	C	T	1: 118,795,817 (GRCm39)	A113T	possibly damaging	Het
Glrx2	C	T	1: 143,615,478 (GRCm39)	A27V	possibly damaging	Het
Gm10961	T	C	3: 107,540,310 (GRCm39)		probably benign	Het
Gpr25	G	A	1: 136,188,448 (GRCm39)	P55L	probably benign	Het
Gpsm3	G	A	17: 34,809,728 (GRCm39)	R52H	possibly damaging	Het
Grm7	G	C	6: 111,335,256 (GRCm39)	D556H	probably damaging	Het
Hdac5	A	G	11: 102,091,342 (GRCm39)	F683L	probably benign	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Igfn1	C	T	1: 135,899,865 (GRCm39)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,898,149 (GRCm39)	S806G	probably benign	Het
Igfn1	G	A	1: 135,895,937 (GRCm39)	A1543V	probably benign	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Irx5	A	C	8: 93,086,316 (GRCm39)	E133A	probably damaging	Het
Itgb5	C	T	16: 33,760,932 (GRCm39)	T589I	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcna5	A	T	6: 126,510,823 (GRCm39)	I435N	probably damaging	Het
Kcnj5	T	C	9: 32,233,488 (GRCm39)	I276V	probably damaging	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	probably benign	Het
Kif14	T	C	1: 136,453,521 (GRCm39)	V1433A	probably benign	Het
Kif14	T	C	1: 136,443,699 (GRCm39)	F1291L	probably benign	Het
Kif14	C	T	1: 136,431,169 (GRCm39)	L1189F	probably benign	Het
Kif14	A	G	1: 136,418,070 (GRCm39)	S868G	probably benign	Het
Kif14	G	A	1: 136,406,103 (GRCm39)	A556T	probably benign	Het
Kif14	A	G	1: 136,396,713 (GRCm39)	K340E	probably damaging	Het
Krt1c	T	C	15: 101,722,408 (GRCm39)	R426G	probably damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lax1	G	A	1: 133,611,372 (GRCm39)	P67S	probably damaging	Het
Lax1	T	C	1: 133,607,716 (GRCm39)	R342G	probably benign	Het
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lin7b	A	T	7: 45,019,351 (GRCm39)	H72Q	probably benign	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Map3k9	A	T	12: 81,769,000 (GRCm39)	V1016E	probably damaging	Het
Mcam	T	C	9: 44,046,003 (GRCm39)	L6P	probably damaging	Het
Mgam	A	G	6: 40,641,794 (GRCm39)	H549R	possibly damaging	Het
Miip	G	A	4: 147,950,231 (GRCm39)	P122S	probably damaging	Het
Mkrn1	T	A	6: 39,377,390 (GRCm39)	N282Y	probably null	Het
Mrc1	T	C	2: 14,332,655 (GRCm39)	V1285A	probably benign	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Myh7b	A	G	2: 155,467,592 (GRCm39)	D739G	possibly damaging	Het
Nav1	A	T	1: 135,512,465 (GRCm39)	D198E	possibly damaging	Het
Nfkbib	A	T	7: 28,461,480 (GRCm39)	Y86N	probably damaging	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	Het
Nrip1	G	T	16: 76,089,778 (GRCm39)	T593K	probably benign	Het
Obscn	A	G	11: 58,964,459 (GRCm39)	Y726H	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	C	G	1: 133,832,908 (GRCm39)	S64T	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4f14b	T	C	2: 111,775,633 (GRCm39)	H56R	probably benign	Het
Or8d2	T	A	9: 38,760,268 (GRCm39)	I286K	probably damaging	Het
Or8g32	T	C	9: 39,305,518 (GRCm39)	Y144H	probably benign	Het
Pard6g	T	A	18: 80,123,040 (GRCm39)	F25I	probably damaging	Het
Parp6	C	A	9: 59,540,821 (GRCm39)	C291*	probably null	Het
Perm1	C	T	4: 156,302,988 (GRCm39)	R511*	probably null	Het
Pigr	C	T	1: 130,772,259 (GRCm39)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 132,994,365 (GRCm39)	P110S	probably benign	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Pole	T	A	5: 110,445,296 (GRCm39)	L481Q	probably damaging	Het
Polr2i	T	C	7: 29,932,493 (GRCm39)	C67R	probably damaging	Het
Ppfia4	G	A	1: 134,227,059 (GRCm39)	P1159S	probably benign	Het
Pramel31	G	T	4: 144,088,295 (GRCm39)	E30D	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgfrn	T	C	3: 100,963,758 (GRCm39)	N618S	possibly damaging	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,027,414 (GRCm39)	N478T	probably benign	Het
Ptprc	T	C	1: 138,039,992 (GRCm39)	K212E	possibly damaging	Het
Ptprc	A	G	1: 138,035,575 (GRCm39)	V400A	probably benign	Het
Ptprc	C	A	1: 138,035,562 (GRCm39)	E402D	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	probably benign	Het
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Ren1	T	A	1: 133,281,944 (GRCm39)	W22R	probably damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,287,745 (GRCm39)	L360V	probably benign	Het
Ren1	A	T	1: 133,287,721 (GRCm39)	N352Y	probably benign	Het
Ren1	A	T	1: 133,286,817 (GRCm39)	E315D	probably benign	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	probably benign	Het
Rims1	C	T	1: 22,416,753 (GRCm39)		probably null	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,211,715 (GRCm39)	A11G	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Ro60	C	T	1: 143,635,752 (GRCm39)	V465I	probably benign	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rsph4a	T	C	10: 33,787,632 (GRCm39)	I596T	probably damaging	Het
Ryr2	A	T	13: 11,715,257 (GRCm39)	Y2770*	probably null	Het
Sctr	T	C	1: 119,959,386 (GRCm39)	F110L	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,466,203 (GRCm39)	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,443,365 (GRCm39)	A55T	probably damaging	Het
Serpinb2	A	C	1: 107,452,273 (GRCm39)	S284R	probably benign	Het
Serpinb2	C	T	1: 107,451,624 (GRCm39)	T259I	probably benign	Het
Serpinb2	C	T	1: 107,451,620 (GRCm39)	H258Y	probably benign	Het
Serpinb2	C	A	1: 107,451,564 (GRCm39)	A239E	probably benign	Het
Serpinb8	A	G	1: 107,525,257 (GRCm39)	S20G	probably benign	Het
Serpinb8	A	C	1: 107,534,734 (GRCm39)	L268F	probably benign	Het
Serpinb8	G	A	1: 107,526,684 (GRCm39)	A75T	probably benign	Het
Sertad4	T	C	1: 192,529,340 (GRCm39)	T159A	probably benign	Het
Setd1a	T	A	7: 127,384,296 (GRCm39)	Y382*	probably null	Het
Sfswap	T	A	5: 129,590,304 (GRCm39)	V267E	possibly damaging	Het
Slc26a9	C	T	1: 131,691,608 (GRCm39)	A617V	probably benign	Het
Slc26a9	C	A	1: 131,693,750 (GRCm39)	R747S	probably benign	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc4a4	T	A	5: 89,280,273 (GRCm39)	L366Q	probably damaging	Het
Sorcs1	T	C	19: 50,216,747 (GRCm39)		probably null	Het
Steap3	T	C	1: 120,155,480 (GRCm39)	N493S	probably benign	Het
Steap3	G	A	1: 120,162,108 (GRCm39)	A350V	probably benign	Het
Svep1	T	A	4: 58,073,333 (GRCm39)	Y1992F	probably benign	Het
Syce1l	A	G	8: 114,381,466 (GRCm39)	R152G	possibly damaging	Het
Tbc1d17	A	C	7: 44,494,555 (GRCm39)	S227A	probably damaging	Het
Telo2	A	T	17: 25,321,712 (GRCm39)		probably null	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Tmem143	G	A	7: 45,556,426 (GRCm39)	D144N	possibly damaging	Het
Tmprss11a	T	A	5: 86,567,891 (GRCm39)	I279F	probably damaging	Het
Tnc	A	G	4: 63,936,333 (GRCm39)	L201P	probably damaging	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,619,245 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Unc80	G	A	1: 66,722,432 (GRCm39)	M3015I	probably benign	Het
Usp9y	A	T	Y: 1,367,093 (GRCm39)	V998D	probably benign	Het
Utrn	A	G	10: 12,339,083 (GRCm39)	F2858S	probably damaging	Het
Vmn1r224	T	C	17: 20,639,447 (GRCm39)	I8T	probably benign	Het
Vmn2r107	T	C	17: 20,576,775 (GRCm39)	S258P	possibly damaging	Het
Wars1	A	C	12: 108,841,667 (GRCm39)	F160C	probably damaging	Het
Xirp1	T	G	9: 120,016,907 (GRCm38)	Q970P	probably benign	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zfp28	A	T	7: 6,397,791 (GRCm39)	Y742F	probably damaging	Het
Zfp541	A	G	7: 15,811,898 (GRCm39)	T184A	probably damaging	Het
Zfp623	T	C	15: 75,819,760 (GRCm39)	S239P	probably damaging	Het
Zfp804b	T	C	5: 6,821,938 (GRCm39)	D375G	probably damaging	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	possibly damaging	Het

Other mutations in Shank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Shank1	APN	7	44,003,662 (GRCm39)	missense	possibly damaging	0.89
IGL01293:Shank1	APN	7	44,003,660 (GRCm39)	missense	possibly damaging	0.59
IGL01319:Shank1	APN	7	44,002,547 (GRCm39)	missense	possibly damaging	0.93
IGL01347:Shank1	APN	7	43,991,544 (GRCm39)	missense	unknown
IGL01621:Shank1	APN	7	44,001,023 (GRCm39)	missense	unknown
IGL01621:Shank1	APN	7	43,991,889 (GRCm39)	missense	unknown
IGL01964:Shank1	APN	7	43,975,102 (GRCm39)	missense	unknown
IGL02309:Shank1	APN	7	43,962,266 (GRCm39)	missense	unknown
IGL02325:Shank1	APN	7	43,976,504 (GRCm39)	nonsense	probably null
IGL02387:Shank1	APN	7	44,006,361 (GRCm39)	missense	possibly damaging	0.77
IGL02958:Shank1	APN	7	44,003,897 (GRCm39)	missense	possibly damaging	0.59
R0098:Shank1	UTSW	7	43,962,709 (GRCm39)	missense	unknown
R0098:Shank1	UTSW	7	43,962,709 (GRCm39)	missense	unknown
R0197:Shank1	UTSW	7	44,001,718 (GRCm39)	missense	unknown
R0326:Shank1	UTSW	7	43,968,594 (GRCm39)	missense	unknown
R0365:Shank1	UTSW	7	44,003,401 (GRCm39)	missense	possibly damaging	0.89
R0883:Shank1	UTSW	7	44,001,718 (GRCm39)	missense	unknown
R1033:Shank1	UTSW	7	44,006,220 (GRCm39)	missense	possibly damaging	0.77
R1390:Shank1	UTSW	7	44,006,462 (GRCm39)	missense	probably damaging	1.00
R1453:Shank1	UTSW	7	43,965,499 (GRCm39)	missense	unknown
R1594:Shank1	UTSW	7	43,976,647 (GRCm39)	nonsense	probably null
R1713:Shank1	UTSW	7	43,969,161 (GRCm39)	missense	unknown
R1869:Shank1	UTSW	7	43,991,539 (GRCm39)	nonsense	probably null
R1870:Shank1	UTSW	7	43,991,539 (GRCm39)	nonsense	probably null
R1959:Shank1	UTSW	7	43,974,801 (GRCm39)	missense	unknown
R1962:Shank1	UTSW	7	43,993,747 (GRCm39)	critical splice donor site	probably null
R2406:Shank1	UTSW	7	44,006,376 (GRCm39)	missense	possibly damaging	0.94
R2509:Shank1	UTSW	7	44,001,547 (GRCm39)	missense	unknown
R2509:Shank1	UTSW	7	44,001,148 (GRCm39)	missense	unknown
R3877:Shank1	UTSW	7	43,994,416 (GRCm39)	missense	unknown
R4041:Shank1	UTSW	7	43,991,586 (GRCm39)	missense	unknown
R4249:Shank1	UTSW	7	43,969,160 (GRCm39)	missense	unknown
R4303:Shank1	UTSW	7	43,991,898 (GRCm39)	missense	unknown
R4431:Shank1	UTSW	7	43,969,076 (GRCm39)	nonsense	probably null
R4525:Shank1	UTSW	7	44,004,014 (GRCm39)	missense	possibly damaging	0.77
R4527:Shank1	UTSW	7	44,004,014 (GRCm39)	missense	possibly damaging	0.77
R4642:Shank1	UTSW	7	43,962,565 (GRCm39)	missense	unknown
R4722:Shank1	UTSW	7	43,962,638 (GRCm39)	nonsense	probably null
R4805:Shank1	UTSW	7	43,993,135 (GRCm39)	missense	unknown
R4874:Shank1	UTSW	7	43,965,497 (GRCm39)	missense	unknown
R4904:Shank1	UTSW	7	43,983,464 (GRCm39)	intron	probably benign
R4939:Shank1	UTSW	7	43,975,586 (GRCm39)	missense	unknown
R5394:Shank1	UTSW	7	44,002,075 (GRCm39)	missense	possibly damaging	0.85
R5410:Shank1	UTSW	7	44,001,246 (GRCm39)	missense	unknown
R5556:Shank1	UTSW	7	43,993,739 (GRCm39)	intron	probably benign
R5620:Shank1	UTSW	7	43,962,160 (GRCm39)	missense	unknown
R5656:Shank1	UTSW	7	44,002,310 (GRCm39)	missense	probably benign	0.33
R5688:Shank1	UTSW	7	44,003,911 (GRCm39)	missense	possibly damaging	0.77
R5740:Shank1	UTSW	7	44,003,164 (GRCm39)	missense	possibly damaging	0.89
R5801:Shank1	UTSW	7	44,006,240 (GRCm39)	missense	possibly damaging	0.77
R6179:Shank1	UTSW	7	44,006,630 (GRCm39)	missense	possibly damaging	0.58
R6186:Shank1	UTSW	7	44,001,990 (GRCm39)	missense	probably benign	0.18
R6245:Shank1	UTSW	7	44,001,677 (GRCm39)	missense	unknown
R6500:Shank1	UTSW	7	43,976,645 (GRCm39)	missense	unknown
R6602:Shank1	UTSW	7	44,001,760 (GRCm39)	missense	probably benign	0.03
R6655:Shank1	UTSW	7	43,976,644 (GRCm39)	missense	unknown
R6709:Shank1	UTSW	7	44,003,600 (GRCm39)	missense	probably benign	0.43
R6734:Shank1	UTSW	7	44,003,110 (GRCm39)	missense	probably benign	0.01
R6881:Shank1	UTSW	7	44,001,217 (GRCm39)	missense	unknown
R6902:Shank1	UTSW	7	44,006,239 (GRCm39)	missense	probably benign	0.39
R6975:Shank1	UTSW	7	43,962,530 (GRCm39)	splice site	probably null
R6985:Shank1	UTSW	7	43,994,337 (GRCm39)	missense	unknown
R7072:Shank1	UTSW	7	43,994,370 (GRCm39)	missense	unknown
R7116:Shank1	UTSW	7	43,976,585 (GRCm39)	missense	unknown
R7117:Shank1	UTSW	7	43,976,585 (GRCm39)	missense	unknown
R7199:Shank1	UTSW	7	44,002,564 (GRCm39)	missense	possibly damaging	0.86
R7249:Shank1	UTSW	7	43,976,585 (GRCm39)	missense	unknown
R7252:Shank1	UTSW	7	43,976,585 (GRCm39)	missense	unknown
R7552:Shank1	UTSW	7	44,002,452 (GRCm39)	missense	probably benign	0.00
R7653:Shank1	UTSW	7	43,969,093 (GRCm39)	missense	unknown
R7707:Shank1	UTSW	7	43,993,725 (GRCm39)	missense	unknown
R7801:Shank1	UTSW	7	44,001,022 (GRCm39)	missense	unknown
R7804:Shank1	UTSW	7	43,962,308 (GRCm39)	missense	unknown
R8122:Shank1	UTSW	7	43,983,015 (GRCm39)	missense	unknown
R8178:Shank1	UTSW	7	43,962,748 (GRCm39)	critical splice donor site	probably null
R8339:Shank1	UTSW	7	43,975,589 (GRCm39)	missense	unknown
R8463:Shank1	UTSW	7	44,003,605 (GRCm39)	missense	possibly damaging	0.77
R9005:Shank1	UTSW	7	44,002,409 (GRCm39)	missense	probably benign	0.00
R9023:Shank1	UTSW	7	43,968,531 (GRCm39)	missense	unknown
R9225:Shank1	UTSW	7	43,983,470 (GRCm39)	missense	unknown
R9234:Shank1	UTSW	7	43,962,579 (GRCm39)	missense	unknown
R9369:Shank1	UTSW	7	44,001,478 (GRCm39)	missense	unknown
R9432:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9433:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9434:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9467:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9474:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9475:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9476:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9477:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9519:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9544:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9545:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9598:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9633:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9698:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9699:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9701:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9755:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9783:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9784:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9800:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9802:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
R9803:Shank1	UTSW	7	43,962,342 (GRCm39)	missense	unknown
X0019:Shank1	UTSW	7	44,006,352 (GRCm39)	missense	probably damaging	1.00
X0065:Shank1	UTSW	7	44,001,353 (GRCm39)	missense	unknown
Z1088:Shank1	UTSW	7	44,001,590 (GRCm39)	missense	unknown
Z1177:Shank1	UTSW	7	43,975,068 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGTTTGGAGCAGCCCTAGTGG -3'
(R):5'- GAATCGCACATGCAGAGGCAGC -3'

Sequencing Primer
(F):5'- ACGCTATTCCTGTCCACCG -3'
(R):5'- GCAACACTGGCTCATGACG -3'

Posted On

2014-05-23