Mutagenetix > Incidental Mutations

Incidental Mutation 'R4939:Shank1'

382920

Institutional Source

Beutler Lab

Gene Symbol

Shank1

Ensembl Gene

ENSMUSG00000038738

Gene Name

SH3 and multiple ankyrin repeat domains 1

Synonyms

MMRRC Submission

042538-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44310253-44360572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44326162 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 477 (P477S)

Ref Sequence

ENSEMBL: ENSMUSP00000103571 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000107934
AA Change: P477S

SMART Domains

Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738
AA Change: P477S

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

unknown
Transcript: ENSMUST00000107935
AA Change: P477S

SMART Domains

Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738
AA Change: P477S

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

unknown
Transcript: ENSMUST00000107938
AA Change: P477S

SMART Domains

Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738
AA Change: P477S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,243,725	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,450,116	M585V	probably benign	Het
Brca1	A	G	11: 101,508,050	V1572A	probably benign	Het
C1ql4	A	T	15: 99,087,640	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,992,157		probably null	Het
Cdk6	A	T	5: 3,344,377	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Clic4	T	C	4: 135,223,541	E113G	probably benign	Het
Creld1	C	A	6: 113,488,179	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,247,676		probably null	Het
Dnaaf3	A	T	7: 4,527,145	S246R	probably damaging	Het
Dnah12	A	T	14: 26,891,524	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,597	D446V	probably damaging	Het
Dock8	A	T	19: 25,122,400	Y629F	probably damaging	Het
E2f8	A	T	7: 48,872,138	N405K	probably benign	Het
Flg	A	G	3: 93,279,847	N202S	probably benign	Het
Glyatl3	A	G	17: 40,910,023		probably null	Het
Gm10696	A	T	3: 94,176,233	Y90*	probably null	Het
Gm38999	A	G	7: 43,428,461	T63A	possibly damaging	Het
Gm4981	T	C	10: 58,235,603	N263S	probably benign	Het
Grap	A	G	11: 61,660,298	Y52C	probably damaging	Het
Haus2	T	A	2: 120,619,036	I187K	probably damaging	Het
Heatr5b	T	C	17: 78,762,260	E1686G	probably benign	Het
Herc2	A	G	7: 56,206,736	D3944G	probably damaging	Het
Hexdc	A	T	11: 121,207,716	M9L	probably benign	Het
Hoxa3	T	C	6: 52,170,676		probably benign	Het
Hspg2	A	T	4: 137,508,031	I126F	probably damaging	Het
Itpr1	T	A	6: 108,440,558	C123*	probably null	Het
Jmjd1c	T	A	10: 67,246,137	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,729,686	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,815,245	S747R	possibly damaging	Het
Krt26	T	C	11: 99,334,696	M320V	probably benign	Het
Lama1	T	G	17: 67,737,475	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,126,836	D1103G	probably damaging	Het
Lepr	A	T	4: 101,733,438	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,709,979		probably null	Het
Mcoln2	A	T	3: 146,192,241	H39L	probably benign	Het
Myh11	T	A	16: 14,239,507	T315S	probably benign	Het
Ncapd3	T	C	9: 27,063,869		probably null	Het
Nlrp9b	G	T	7: 20,024,496	V553F	probably damaging	Het
Nubpl	A	G	12: 52,181,095	N129S	probably damaging	Het
Nup214	C	A	2: 31,983,159	T255K	probably benign	Het
Olfr1390	A	G	11: 49,340,549	T6A	probably benign	Het
Olfr1469	T	A	19: 13,410,855	N95K	probably benign	Het
Olfr218	T	C	1: 173,203,463	Y36H	possibly damaging	Het
Olfr325	G	T	11: 58,581,211	M122I	probably damaging	Het
Olfr464	G	T	11: 87,914,124	P261T	probably damaging	Het
Olfr619	T	C	7: 103,604,251	V199A	probably benign	Het
Orc3	G	A	4: 34,593,126	Q256*	probably null	Het
Pbrm1	A	G	14: 31,061,623	M566V	probably damaging	Het
Pde6b	A	G	5: 108,421,497	I357V	probably benign	Het
Pkdrej	A	G	15: 85,820,283	I484T	possibly damaging	Het
Plvap	A	G	8: 71,511,439	V93A	probably benign	Het
Plxna4	T	C	6: 32,165,762	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,328,079	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,517,469		probably null	Het
Ranbp17	T	C	11: 33,219,223	N997S	probably benign	Het
Rpap2	G	T	5: 107,603,625		probably null	Het
Rrm1	T	C	7: 102,466,924	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,483,039		probably null	Het
Sh3pxd2a	A	G	19: 47,278,404	Y277H	probably damaging	Het
Shtn1	T	C	19: 59,022,201	E278G	probably benign	Het
Skap2	T	A	6: 51,922,323	I109F	possibly damaging	Het
Skiv2l2	T	C	13: 112,909,892	D308G	possibly damaging	Het
Slc28a3	A	C	13: 58,558,581	I615M	probably benign	Het
Slc4a11	A	G	2: 130,684,868	L780P	probably damaging	Het
Slc5a4b	T	C	10: 76,081,467	E245G	probably benign	Het
Slfn8	C	T	11: 83,003,285	A843T	probably benign	Het
Sncaip	A	T	18: 52,907,263	Q843L	possibly damaging	Het
Spidr	T	A	16: 16,140,746	K51*	probably null	Het
Tas2r123	T	C	6: 132,847,845	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,130,469	D757G	probably benign	Het
Tmem132d	A	T	5: 127,796,075	V490D	probably damaging	Het
Top2a	T	A	11: 99,010,092	H557L	probably damaging	Het
Trafd1	A	G	5: 121,375,191	I328T	probably benign	Het
Trappc11	G	A	8: 47,519,665	A291V	probably damaging	Het
Tuba1c	A	G	15: 99,037,954	Y432C	probably damaging	Het
Utp11	T	G	4: 124,683,250	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,842,891	T239P	probably damaging	Het
Vwce	A	T	19: 10,645,050	N239Y	probably damaging	Het
Yes1	T	C	5: 32,645,113		probably null	Het
Zfand6	A	C	7: 84,615,822	*224G	probably null	Het
Zfp408	A	T	2: 91,645,105	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044		probably null	Het
Zfp946	T	C	17: 22,455,437	F391L	probably damaging	Het

Other mutations in Shank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Shank1	APN	7	44354238	missense	possibly damaging	0.89
IGL01293:Shank1	APN	7	44354236	missense	possibly damaging	0.59
IGL01319:Shank1	APN	7	44353123	missense	possibly damaging	0.93
IGL01347:Shank1	APN	7	44342120	missense	unknown
IGL01621:Shank1	APN	7	44342465	missense	unknown
IGL01621:Shank1	APN	7	44351599	missense	unknown
IGL01964:Shank1	APN	7	44325678	missense	unknown
IGL02309:Shank1	APN	7	44312842	missense	unknown
IGL02325:Shank1	APN	7	44327080	nonsense	probably null
IGL02387:Shank1	APN	7	44356937	missense	possibly damaging	0.77
IGL02958:Shank1	APN	7	44354473	missense	possibly damaging	0.59
R0098:Shank1	UTSW	7	44313285	missense	unknown
R0098:Shank1	UTSW	7	44313285	missense	unknown
R0197:Shank1	UTSW	7	44352294	missense	unknown
R0326:Shank1	UTSW	7	44319170	missense	unknown
R0365:Shank1	UTSW	7	44353977	missense	possibly damaging	0.89
R0883:Shank1	UTSW	7	44352294	missense	unknown
R1033:Shank1	UTSW	7	44356796	missense	possibly damaging	0.77
R1390:Shank1	UTSW	7	44357038	missense	probably damaging	1.00
R1453:Shank1	UTSW	7	44316075	missense	unknown
R1594:Shank1	UTSW	7	44327223	nonsense	probably null
R1713:Shank1	UTSW	7	44319737	missense	unknown
R1783:Shank1	UTSW	7	44352737	missense	possibly damaging	0.70
R1869:Shank1	UTSW	7	44342115	nonsense	probably null
R1870:Shank1	UTSW	7	44342115	nonsense	probably null
R1959:Shank1	UTSW	7	44325377	missense	unknown
R1962:Shank1	UTSW	7	44344323	critical splice donor site	probably null
R2406:Shank1	UTSW	7	44356952	missense	possibly damaging	0.94
R2509:Shank1	UTSW	7	44351724	missense	unknown
R2509:Shank1	UTSW	7	44352123	missense	unknown
R3877:Shank1	UTSW	7	44344992	missense	unknown
R4041:Shank1	UTSW	7	44342162	missense	unknown
R4249:Shank1	UTSW	7	44319736	missense	unknown
R4303:Shank1	UTSW	7	44342474	missense	unknown
R4431:Shank1	UTSW	7	44319652	nonsense	probably null
R4525:Shank1	UTSW	7	44354590	missense	possibly damaging	0.77
R4527:Shank1	UTSW	7	44354590	missense	possibly damaging	0.77
R4642:Shank1	UTSW	7	44313141	missense	unknown
R4722:Shank1	UTSW	7	44313214	nonsense	probably null
R4805:Shank1	UTSW	7	44343711	missense	unknown
R4874:Shank1	UTSW	7	44316073	missense	unknown
R4904:Shank1	UTSW	7	44334040	intron	probably benign
R5394:Shank1	UTSW	7	44352651	missense	possibly damaging	0.85
R5410:Shank1	UTSW	7	44351822	missense	unknown
R5556:Shank1	UTSW	7	44344315	intron	probably benign
R5620:Shank1	UTSW	7	44312736	missense	unknown
R5656:Shank1	UTSW	7	44352886	missense	probably benign	0.33
R5688:Shank1	UTSW	7	44354487	missense	possibly damaging	0.77
R5740:Shank1	UTSW	7	44353740	missense	possibly damaging	0.89
R5801:Shank1	UTSW	7	44356816	missense	possibly damaging	0.77
R6179:Shank1	UTSW	7	44357206	missense	possibly damaging	0.58
R6186:Shank1	UTSW	7	44352566	missense	probably benign	0.18
R6245:Shank1	UTSW	7	44352253	missense	unknown
R6500:Shank1	UTSW	7	44327221	missense	unknown
R6602:Shank1	UTSW	7	44352336	missense	probably benign	0.03
R6655:Shank1	UTSW	7	44327220	missense	unknown
R6709:Shank1	UTSW	7	44354176	missense	probably benign	0.43
R6734:Shank1	UTSW	7	44353686	missense	probably benign	0.01
R6881:Shank1	UTSW	7	44351793	missense	unknown
R6902:Shank1	UTSW	7	44356815	missense	probably benign	0.39
R6975:Shank1	UTSW	7	44313106	splice site	probably null
R6985:Shank1	UTSW	7	44344913	missense	unknown
R7072:Shank1	UTSW	7	44344946	missense	unknown
R7116:Shank1	UTSW	7	44327161	missense	unknown
R7117:Shank1	UTSW	7	44327161	missense	unknown
R7199:Shank1	UTSW	7	44353140	missense	possibly damaging	0.86
R7249:Shank1	UTSW	7	44327161	missense	unknown
R7252:Shank1	UTSW	7	44327161	missense	unknown
R7552:Shank1	UTSW	7	44353028	missense	probably benign	0.00
R7653:Shank1	UTSW	7	44319669	missense	unknown
R7707:Shank1	UTSW	7	44344301	missense	unknown
R7801:Shank1	UTSW	7	44351598	missense	unknown
R7804:Shank1	UTSW	7	44312884	missense	unknown
R8122:Shank1	UTSW	7	44333591	missense	unknown
R8178:Shank1	UTSW	7	44313324	critical splice donor site	probably null
R8339:Shank1	UTSW	7	44326165	missense	unknown
R8463:Shank1	UTSW	7	44354181	missense	possibly damaging	0.77
X0019:Shank1	UTSW	7	44356928	missense	probably damaging	1.00
X0065:Shank1	UTSW	7	44351929	missense	unknown
Z1088:Shank1	UTSW	7	44352166	missense	unknown
Z1177:Shank1	UTSW	7	44325644	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCAGTACCTTTCCAGGAGTCC -3'
(R):5'- GCTGCAGGTAGGTATGGAAC -3'

Sequencing Primer
(F):5'- TTCCAGGAGTCCCCCAAGTATG -3'
(R):5'- GGTATGGAACCCACCACTCCTG -3'

Posted On

2016-04-27