Mutagenetix > Incidental Mutation

Incidental Mutation 'R1869:Shank1'

210537

Institutional Source

Beutler Lab

Gene Symbol

Shank1

Ensembl Gene

ENSMUSG00000038738

Gene Name

SH3 and multiple ankyrin repeat domains 1

Synonyms

MMRRC Submission

039891-MU

Accession Numbers

Essential gene?

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

Stock #

R1869 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

43959677-44009996 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43991539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 69 (R69*)

Gene Model

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

AlphaFold

D3YZU1

Predicted Effect

unknown
Transcript: ENSMUST00000107934
AA Change: E652V

SMART Domains

Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738
AA Change: E652V

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: E661V

SMART Domains

Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738
AA Change: E661V

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: E661V

SMART Domains

Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738
AA Change: E661V

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

probably null
Transcript: ENSMUST00000134205
AA Change: R69*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154776

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,840,067 (GRCm39)	L110P	probably damaging	Het
6030458C11Rik	T	C	15: 12,817,993 (GRCm39)	D168G	probably damaging	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abhd11	A	G	5: 135,040,471 (GRCm39)	Y168C	probably damaging	Het
Actr5	A	C	2: 158,480,643 (GRCm39)	T554P	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts16	A	G	13: 70,883,866 (GRCm39)	L1103P	probably damaging	Het
Adgrb3	A	T	1: 25,865,519 (GRCm39)	I108K	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Aoc3	T	A	11: 101,222,293 (GRCm39)	Y176*	probably null	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Ap4b1	T	A	3: 103,728,184 (GRCm39)	Y399*	probably null	Het
Arhgef5	A	T	6: 43,265,616 (GRCm39)	I1553F	probably damaging	Het
Bag6	T	C	17: 35,361,802 (GRCm39)	V541A	probably benign	Het
Bdp1	A	C	13: 100,178,709 (GRCm39)	V1879G	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Bsnd	C	T	4: 106,343,833 (GRCm39)	V158I	probably benign	Het
Cachd1	C	A	4: 100,840,587 (GRCm39)	H880N	probably damaging	Het
Ccdc27	T	C	4: 154,111,220 (GRCm39)		probably null	Het
Cd74	C	T	18: 60,943,484 (GRCm39)	P190S	probably benign	Het
Cep68	A	T	11: 20,190,217 (GRCm39)	L265Q	probably damaging	Het
Cfap70	G	A	14: 20,458,678 (GRCm39)	Q772*	probably null	Het
CK137956	T	A	4: 127,864,327 (GRCm39)	S101C	possibly damaging	Het
Clca3a2	G	A	3: 144,512,164 (GRCm39)	T524M	probably benign	Het
Cxcr6	T	C	9: 123,639,022 (GRCm39)	S15P	probably benign	Het
Cyfip2	T	A	11: 46,114,995 (GRCm39)	Y904F	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Ddx56	C	T	11: 6,213,993 (GRCm39)	V389M	possibly damaging	Het
Dmp1	A	T	5: 104,359,942 (GRCm39)	D206V	probably damaging	Het
Dnah17	A	T	11: 117,938,015 (GRCm39)	C3350*	probably null	Het
Dst	A	T	1: 34,291,913 (GRCm39)	S877C	probably damaging	Het
Ermp1	A	G	19: 29,623,415 (GRCm39)	S192P	possibly damaging	Het
F13b	G	A	1: 139,438,672 (GRCm39)	D359N	probably benign	Het
Fam171a1	A	T	2: 3,227,189 (GRCm39)	Q769L	possibly damaging	Het
Fap	T	C	2: 62,359,071 (GRCm39)	R411G	probably damaging	Het
Fbn1	A	G	2: 125,193,947 (GRCm39)	V1340A	probably benign	Het
Fbxw19	T	C	9: 109,311,100 (GRCm39)	I370V	probably benign	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Frem2	T	G	3: 53,442,617 (GRCm39)	D2640A	probably benign	Het
Fzd4	T	C	7: 89,056,454 (GRCm39)	V167A	probably benign	Het
Galnt3	T	C	2: 65,928,123 (GRCm39)	I258V	possibly damaging	Het
Galr2	T	C	11: 116,174,069 (GRCm39)	V233A	possibly damaging	Het
Gldc	G	T	19: 30,116,732 (GRCm39)	Q407K	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr89	A	G	3: 96,782,975 (GRCm39)	I325T	probably benign	Het
Grap	T	A	11: 61,555,015 (GRCm39)	Y61N	possibly damaging	Het
Hbs1l	G	T	10: 21,234,305 (GRCm39)		probably null	Het
Hexb	T	A	13: 97,327,767 (GRCm39)	E134D	probably benign	Het
Hydin	T	A	8: 111,227,337 (GRCm39)	V1507D	possibly damaging	Het
Igkv8-16	C	A	6: 70,363,971 (GRCm39)	G17V	probably benign	Het
Kdm4a	T	A	4: 117,996,068 (GRCm39)	Q987L	probably null	Het
Krt76	A	G	15: 101,797,922 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,660,729 (GRCm39)	S238P	probably benign	Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Lipn	A	G	19: 34,058,139 (GRCm39)	T287A	possibly damaging	Het
Macf1	T	C	4: 123,244,921 (GRCm39)	S466G	probably damaging	Het
Map3k5	C	A	10: 20,007,855 (GRCm39)	S1220*	probably null	Het
Map4	T	A	9: 109,897,996 (GRCm39)	S754R	possibly damaging	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mroh9	A	G	1: 162,854,082 (GRCm39)	S773P	probably damaging	Het
Mtus1	A	C	8: 41,529,267 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,139,117 (GRCm39)	P533S	probably damaging	Het
Muc13	A	T	16: 33,624,970 (GRCm39)	I282F	probably damaging	Het
Mucl3	A	G	17: 35,949,305 (GRCm39)	L98P	possibly damaging	Het
Myh14	T	A	7: 44,261,067 (GRCm39)	Q1816L	possibly damaging	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Olfml2b	A	G	1: 170,496,812 (GRCm39)	D481G	probably damaging	Het
Or13g1	T	A	7: 85,955,875 (GRCm39)	I149F	possibly damaging	Het
Or2ag19	T	G	7: 106,444,301 (GRCm39)	I161S	probably benign	Het
Or5g23	A	G	2: 85,438,844 (GRCm39)	S137P	probably benign	Het
Or8b37	T	A	9: 37,959,498 (GRCm39)		probably null	Het
Or8k3b	T	A	2: 86,520,735 (GRCm39)	I195F	probably damaging	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pcnt	T	C	10: 76,215,740 (GRCm39)	E2347G	probably null	Het
Phax	T	A	18: 56,706,176 (GRCm39)	V22D	probably benign	Het
Pik3ca	T	C	3: 32,504,499 (GRCm39)	F667S	probably damaging	Het
Pkd1	T	C	17: 24,813,905 (GRCm39)	F4123S	probably damaging	Het
Pkhd1	A	G	1: 20,685,491 (GRCm39)		probably null	Het
Plcb1	G	A	2: 135,152,934 (GRCm39)	R368K	probably benign	Het
Prrc2a	G	T	17: 35,372,284 (GRCm39)	R1739S	possibly damaging	Het
Psg23	A	T	7: 18,348,543 (GRCm39)	M88K	probably benign	Het
Pstk	T	A	7: 130,989,526 (GRCm39)	Y354N	probably damaging	Het
Rab39	A	G	9: 53,617,231 (GRCm39)	I62T	possibly damaging	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rasgrp1	T	C	2: 117,120,828 (GRCm39)	Y431C	probably damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf167	T	A	11: 70,540,965 (GRCm39)	I197N	possibly damaging	Het
Rtn1	A	G	12: 72,354,942 (GRCm39)	S335P	probably damaging	Het
Ryr2	G	T	13: 11,676,961 (GRCm39)	R3297S	probably damaging	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scgb1b24	T	C	7: 33,443,469 (GRCm39)	Y43H	probably damaging	Het
Sh3rf3	T	A	10: 58,919,335 (GRCm39)	M484K	probably damaging	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc1a7	A	G	4: 107,865,561 (GRCm39)	T350A	probably damaging	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slk	T	C	19: 47,613,891 (GRCm39)	F916L	probably damaging	Het
Snap91	T	A	9: 86,672,194 (GRCm39)		probably null	Het
Snrpb2	A	T	2: 142,907,106 (GRCm39)	R25S	possibly damaging	Het
Specc1l	T	C	10: 75,097,659 (GRCm39)	Y811H	probably damaging	Het
Sprr2h	A	G	3: 92,293,925 (GRCm39)		probably benign	Het
Sult2a5	A	T	7: 13,358,045 (GRCm39)	I26F	probably benign	Het
Syt13	C	T	2: 92,776,448 (GRCm39)	T245I	possibly damaging	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Telo2	T	A	17: 25,333,968 (GRCm39)	D93V	probably benign	Het
Tet2	A	T	3: 133,187,202 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,931,570 (GRCm39)	C198S	probably damaging	Het
Ticrr	T	C	7: 79,328,883 (GRCm39)	F674S	probably damaging	Het
Tmem129	C	A	5: 33,811,843 (GRCm39)	C31F	probably damaging	Het
Tmem132a	T	A	19: 10,836,052 (GRCm39)	D826V	possibly damaging	Het
Tpd52	T	C	3: 9,018,862 (GRCm39)		probably null	Het
Trub2	A	G	2: 29,667,678 (GRCm39)	S321P	probably benign	Het
Ttc29	A	G	8: 79,009,014 (GRCm39)	T295A	probably benign	Het
Tubb1	G	A	2: 174,298,482 (GRCm39)	S89N	probably benign	Het
Tut4	T	A	4: 108,386,497 (GRCm39)	F1122L	probably damaging	Het
Ubap2	C	A	4: 41,233,617 (GRCm39)	G91V	probably damaging	Het
Ugt2b35	A	G	5: 87,149,147 (GRCm39)	N133D	probably damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn1r220	A	C	13: 23,368,457 (GRCm39)	C80G	probably damaging	Het
Vmn1r79	A	G	7: 11,910,574 (GRCm39)	E152G	probably benign	Het
Vmn2r28	T	C	7: 5,489,345 (GRCm39)	Y498C	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zfp972	A	G	2: 177,563,480 (GRCm39)		probably null	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
R1783:Shank1	UTSW	7	44,002,161 (GRCm39)	missense	possibly damaging	0.70
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'- GGTGTCTTGAGCATAAGTACAGAC -3'
(R):5'- AAGTCACAGAGGACTCACTGG -3'

Sequencing Primer
(F):5'- TCTTGAGCATAAGTACAGACTGGATG -3'
(R):5'- CACAGAGGACTCACTGGAGCTG -3'

Posted On

2014-06-30