Mutagenetix > Incidental Mutation

Incidental Mutation 'R4828:Shank3'

430195

Institutional Source

Beutler Lab

Gene Symbol

Shank3

Ensembl Gene

ENSMUSG00000022623

Gene Name

SH3 and multiple ankyrin repeat domains 3

Synonyms

ProSAP2

MMRRC Submission

042444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R4828 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89383826-89444464 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 89384402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039074] [ENSMUST00000066545] [ENSMUST00000109309]

AlphaFold

Q4ACU6

Predicted Effect

probably benign
Transcript: ENSMUST00000039074

SMART Domains

Protein: ENSMUSP00000048062
Gene: ENSMUSG00000022623

Domain	Start	End	E-Value	Type
ANK	182	211	1.54e-1	SMART
ANK	215	245	3.36e2	SMART
ANK	249	278	2.47e0	SMART
ANK	282	311	3.71e-4	SMART
ANK	315	345	5.03e2	SMART
low complexity region	434	462	N/A	INTRINSIC
SH3	473	528	1.28e-14	SMART
PDZ	579	664	3.95e-13	SMART
low complexity region	672	684	N/A	INTRINSIC
low complexity region	813	843	N/A	INTRINSIC
low complexity region	857	869	N/A	INTRINSIC
low complexity region	905	923	N/A	INTRINSIC
low complexity region	1078	1092	N/A	INTRINSIC
low complexity region	1109	1121	N/A	INTRINSIC
low complexity region	1173	1194	N/A	INTRINSIC
low complexity region	1235	1252	N/A	INTRINSIC
low complexity region	1266	1278	N/A	INTRINSIC
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1341	1355	N/A	INTRINSIC
low complexity region	1370	1395	N/A	INTRINSIC
low complexity region	1409	1427	N/A	INTRINSIC
low complexity region	1552	1558	N/A	INTRINSIC
low complexity region	1584	1599	N/A	INTRINSIC
low complexity region	1626	1658	N/A	INTRINSIC
SAM	1664	1730	3.08e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000066545

SMART Domains

Protein: ENSMUSP00000064477
Gene: ENSMUSG00000022623

Domain	Start	End	E-Value	Type
ANK	109	138	1.54e-1	SMART
ANK	142	172	3.36e2	SMART
ANK	176	205	2.47e0	SMART
ANK	209	238	3.71e-4	SMART
ANK	242	272	5.03e2	SMART
low complexity region	361	389	N/A	INTRINSIC
SH3	400	455	1.28e-14	SMART
PDZ	506	591	3.95e-13	SMART
low complexity region	599	611	N/A	INTRINSIC
low complexity region	625	636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109309

SMART Domains

Protein: ENSMUSP00000104932
Gene: ENSMUSG00000022623

Domain	Start	End	E-Value	Type
low complexity region	5	55	N/A	INTRINSIC
Pfam:FERM_f0	84	167	2.5e-14	PFAM
ANK	257	286	1.54e-1	SMART
ANK	290	320	3.36e2	SMART
ANK	324	353	2.47e0	SMART
ANK	357	386	3.71e-4	SMART
ANK	390	420	5.03e2	SMART
low complexity region	509	537	N/A	INTRINSIC
SH3	548	603	1.28e-14	SMART
PDZ	654	739	3.95e-13	SMART
low complexity region	747	759	N/A	INTRINSIC
low complexity region	888	918	N/A	INTRINSIC
low complexity region	932	944	N/A	INTRINSIC
low complexity region	980	998	N/A	INTRINSIC
low complexity region	1153	1167	N/A	INTRINSIC
low complexity region	1184	1196	N/A	INTRINSIC
low complexity region	1248	1269	N/A	INTRINSIC
low complexity region	1310	1327	N/A	INTRINSIC
low complexity region	1341	1353	N/A	INTRINSIC
low complexity region	1393	1407	N/A	INTRINSIC
low complexity region	1416	1430	N/A	INTRINSIC
low complexity region	1445	1470	N/A	INTRINSIC
low complexity region	1484	1502	N/A	INTRINSIC
low complexity region	1627	1633	N/A	INTRINSIC
low complexity region	1659	1674	N/A	INTRINSIC
low complexity region	1701	1733	N/A	INTRINSIC
SAM	1739	1805	3.08e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135214

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (106/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of synaptic and autism-related impairments. Homozygotes lacking exon 9 show altered excitation/inhibition balance, increased rearing, and mildly impaired spatial memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Adat3	T	C	10: 80,442,881 (GRCm39)	S240P	probably benign	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Alg2	A	G	4: 47,471,563 (GRCm39)	V415A	probably benign	Het
Alpk2	T	C	18: 65,482,184 (GRCm39)	E141G	probably benign	Het
Ampd1	A	C	3: 102,988,413 (GRCm39)	T115P	probably damaging	Het
Ankrd12	A	G	17: 66,291,632 (GRCm39)	L1267P	probably damaging	Het
Arfgef3	A	T	10: 18,528,441 (GRCm39)	S315R	probably damaging	Het
Atp10d	A	C	5: 72,396,461 (GRCm39)	D222A	probably benign	Het
B9d1	A	G	11: 61,398,461 (GRCm39)	E47G	probably damaging	Het
Bag2	T	C	1: 33,785,968 (GRCm39)	D118G	probably damaging	Het
Bnip3l	G	T	14: 67,246,208 (GRCm39)	P9Q	probably damaging	Het
Casp8ap2	A	G	4: 32,639,807 (GRCm39)	N287S	probably benign	Het
Ccdc190	A	G	1: 169,761,465 (GRCm39)	D189G	probably damaging	Het
Ccdc88a	A	G	11: 29,413,210 (GRCm39)	K583E	probably damaging	Het
Cd84	A	T	1: 171,700,315 (GRCm39)	N144I	probably damaging	Het
Chrnd	A	G	1: 87,119,293 (GRCm39)		probably benign	Het
Clca3b	G	T	3: 144,550,273 (GRCm39)	T224K	probably benign	Het
Crcp	A	G	5: 130,088,603 (GRCm39)	T119A	probably damaging	Het
Cul2	T	C	18: 3,431,013 (GRCm39)	Y596H	probably damaging	Het
Dip2c	T	A	13: 9,610,715 (GRCm39)	W356R	probably damaging	Het
Dlc1	T	A	8: 37,317,400 (GRCm39)	Q425L	possibly damaging	Het
Dnah7b	T	A	1: 46,167,272 (GRCm39)	V588D	possibly damaging	Het
Dock4	G	T	12: 40,718,436 (GRCm39)	G245W	probably damaging	Het
Dpf3	A	G	12: 83,341,273 (GRCm39)	I160T	possibly damaging	Het
Dstyk	A	G	1: 132,361,875 (GRCm39)	T102A	probably benign	Het
Eif3d	A	T	15: 77,844,229 (GRCm39)	L425*	probably null	Het
Elac2	A	G	11: 64,886,153 (GRCm39)	E477G	probably damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Ext2	G	A	2: 93,626,112 (GRCm39)	T316I	probably benign	Het
Fbf1	A	G	11: 116,039,777 (GRCm39)	V694A	probably benign	Het
Fgg	G	A	3: 82,915,677 (GRCm39)		probably benign	Het
Flnb	G	A	14: 7,919,238 (GRCm38)	V1664I	probably benign	Het
Flnc	G	A	6: 29,455,166 (GRCm39)	D1932N	probably damaging	Het
Gm1818	A	T	12: 48,602,409 (GRCm39)		noncoding transcript	Het
Gnai1	G	A	5: 18,496,470 (GRCm39)	S151L	probably damaging	Het
Golph3l	G	A	3: 95,499,059 (GRCm39)	R67H	possibly damaging	Het
Grk5	T	A	19: 60,976,213 (GRCm39)	C42*	probably null	Het
Herc1	G	A	9: 66,404,625 (GRCm39)		probably null	Het
Hey2	A	T	10: 30,710,179 (GRCm39)	H191Q	possibly damaging	Het
Il11	A	G	7: 4,779,481 (GRCm39)	V8A	probably benign	Het
Il23r	G	A	6: 67,408,635 (GRCm39)	P402L	probably benign	Het
Irf5	A	G	6: 29,531,140 (GRCm39)	N2S	probably damaging	Het
Lamb1	T	C	12: 31,348,929 (GRCm39)	Y606H	probably benign	Het
Larp4b	C	T	13: 9,220,934 (GRCm39)	R650C	probably damaging	Het
Lrpap1	T	C	5: 35,259,765 (GRCm39)	E111G	possibly damaging	Het
Lrrc36	T	A	8: 106,181,862 (GRCm39)	S388T	probably benign	Het
Med27	T	C	2: 29,267,950 (GRCm39)		probably benign	Het
Mrc1	T	G	2: 14,275,017 (GRCm39)	D439E	probably damaging	Het
Notch4	A	T	17: 34,789,034 (GRCm39)	E444D	probably damaging	Het
Nrm	G	A	17: 36,175,082 (GRCm39)	V137I	possibly damaging	Het
Nxpe5	T	A	5: 138,228,795 (GRCm39)	L4Q	possibly damaging	Het
Obscn	A	G	11: 58,977,496 (GRCm39)	V2052A	possibly damaging	Het
Oc90	A	T	15: 65,753,408 (GRCm39)	Y304N	probably damaging	Het
Or13f5	T	C	4: 52,826,138 (GRCm39)	V247A	probably damaging	Het
Or52d3	T	A	7: 104,229,180 (GRCm39)	F109Y	possibly damaging	Het
Or5p1	T	C	7: 107,916,677 (GRCm39)	V192A	probably benign	Het
Or8b101	T	C	9: 38,020,036 (GRCm39)	I13T	probably damaging	Het
Or8k1	T	A	2: 86,047,877 (GRCm39)	H59L	possibly damaging	Het
Parp10	A	T	15: 76,127,281 (GRCm39)	I52N	probably benign	Het
Pdgfrb	C	A	18: 61,206,315 (GRCm39)	R608S	probably damaging	Het
Pecam1	A	G	11: 106,590,634 (GRCm39)	C47R	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pkhd1l1	A	G	15: 44,392,801 (GRCm39)	E1712G	possibly damaging	Het
Plce1	T	C	19: 38,757,943 (GRCm39)	I1958T	probably damaging	Het
Plch2	C	T	4: 155,069,092 (GRCm39)	R1073Q	probably benign	Het
Pld5	A	C	1: 176,102,433 (GRCm39)	I3S	probably benign	Het
Polr1a	T	C	6: 71,943,385 (GRCm39)	W1207R	possibly damaging	Het
Polr2m	T	G	9: 71,391,050 (GRCm39)	I51L	possibly damaging	Het
Ppl	G	A	16: 4,922,790 (GRCm39)	R234C	probably damaging	Het
Ppp1r42	C	T	1: 10,069,636 (GRCm39)	R142H	probably benign	Het
Prokr1	A	G	6: 87,558,224 (GRCm39)	V387A	probably benign	Het
Prss23	A	T	7: 89,159,108 (GRCm39)	Y320*	probably null	Het
Ptprk	A	T	10: 28,436,050 (GRCm39)	M804L	probably damaging	Het
Rdh16f2	A	G	10: 127,710,823 (GRCm39)	S147G	probably benign	Het
Rgs7bp	T	C	13: 105,189,532 (GRCm39)	H89R	possibly damaging	Het
Rilpl2	G	T	5: 124,607,875 (GRCm39)	T115K	possibly damaging	Het
Rnf212	G	A	5: 108,877,334 (GRCm39)	S153F	probably damaging	Het
Rnf213	A	G	11: 119,307,455 (GRCm39)	D705G	possibly damaging	Het
Selenbp2	A	G	3: 94,611,426 (GRCm39)	N379S	probably benign	Het
Sema3e	G	A	5: 14,276,654 (GRCm39)	V312M	probably damaging	Het
Sh2d5	T	A	4: 137,985,566 (GRCm39)	L338Q	probably damaging	Het
Skor2	G	T	18: 76,948,113 (GRCm39)	G612C	probably damaging	Het
Slc22a16	A	G	10: 40,449,636 (GRCm39)	Y24C	probably damaging	Het
Slc4a1ap	T	A	5: 31,688,053 (GRCm39)	Y312*	probably null	Het
Slc5a7	A	T	17: 54,583,827 (GRCm39)	F488I	probably benign	Het
Snrnp200	A	G	2: 127,053,527 (GRCm39)	D130G	probably damaging	Het
Sorbs2	T	A	8: 46,194,652 (GRCm39)		probably benign	Het
Tmem91	T	G	7: 25,368,803 (GRCm39)	T161P	probably damaging	Het
Tpd52l1	G	A	10: 31,222,697 (GRCm39)	T99M	probably damaging	Het
Trps1	A	G	15: 50,524,073 (GRCm39)	*1036Q	probably null	Het
Tshr	A	T	12: 91,504,564 (GRCm39)	T501S	probably damaging	Het
Tubgcp3	T	C	8: 12,721,987 (GRCm39)	N15S	probably benign	Het
Unc5b	A	G	10: 60,608,127 (GRCm39)	S669P	possibly damaging	Het
Zfp970	A	G	2: 177,167,146 (GRCm39)	E240G	probably damaging	Het

Other mutations in Shank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Shank3	APN	15	89,433,619 (GRCm39)	missense	probably damaging	1.00
IGL01469:Shank3	APN	15	89,405,477 (GRCm39)	missense	probably damaging	1.00
IGL01886:Shank3	APN	15	89,415,866 (GRCm39)	missense	probably damaging	1.00
IGL01934:Shank3	APN	15	89,434,049 (GRCm39)	missense	probably damaging	1.00
IGL01989:Shank3	APN	15	89,387,502 (GRCm39)	splice site	probably benign
IGL02004:Shank3	APN	15	89,387,502 (GRCm39)	splice site	probably benign
IGL02085:Shank3	APN	15	89,388,118 (GRCm39)	critical splice donor site	probably null
IGL02195:Shank3	APN	15	89,432,321 (GRCm39)	missense	probably damaging	1.00
IGL02354:Shank3	APN	15	89,388,536 (GRCm39)	missense	probably damaging	1.00
IGL02361:Shank3	APN	15	89,388,536 (GRCm39)	missense	probably damaging	1.00
IGL02541:Shank3	APN	15	89,385,613 (GRCm39)	missense	probably damaging	1.00
G1citation:Shank3	UTSW	15	89,415,830 (GRCm39)	missense	probably damaging	1.00
R0294:Shank3	UTSW	15	89,416,301 (GRCm39)	missense	probably damaging	1.00
R0468:Shank3	UTSW	15	89,433,478 (GRCm39)	missense	probably benign	0.28
R0483:Shank3	UTSW	15	89,427,442 (GRCm39)	splice site	probably benign
R0605:Shank3	UTSW	15	89,408,350 (GRCm39)	missense	possibly damaging	0.49
R0675:Shank3	UTSW	15	89,415,591 (GRCm39)	missense	possibly damaging	0.92
R1082:Shank3	UTSW	15	89,433,574 (GRCm39)	missense	probably damaging	1.00
R1576:Shank3	UTSW	15	89,387,866 (GRCm39)	missense	probably benign	0.11
R1702:Shank3	UTSW	15	89,384,099 (GRCm39)	missense	probably damaging	0.99
R1726:Shank3	UTSW	15	89,442,189 (GRCm39)	missense	probably damaging	1.00
R1958:Shank3	UTSW	15	89,387,351 (GRCm39)	missense	probably damaging	0.99
R1961:Shank3	UTSW	15	89,442,167 (GRCm39)	missense	possibly damaging	0.60
R2420:Shank3	UTSW	15	89,405,413 (GRCm39)	nonsense	probably null
R2513:Shank3	UTSW	15	89,432,889 (GRCm39)	missense	probably benign	0.05
R3917:Shank3	UTSW	15	89,387,587 (GRCm39)	missense	possibly damaging	0.77
R4163:Shank3	UTSW	15	89,433,797 (GRCm39)	missense	probably damaging	1.00
R4205:Shank3	UTSW	15	89,387,521 (GRCm39)	missense	probably damaging	1.00
R4434:Shank3	UTSW	15	89,387,562 (GRCm39)	missense	probably damaging	1.00
R4791:Shank3	UTSW	15	89,384,557 (GRCm39)	missense	probably damaging	1.00
R4816:Shank3	UTSW	15	89,427,318 (GRCm39)	missense	probably damaging	1.00
R4911:Shank3	UTSW	15	89,388,547 (GRCm39)	missense	probably damaging	1.00
R4997:Shank3	UTSW	15	89,433,901 (GRCm39)	missense	probably damaging	1.00
R5213:Shank3	UTSW	15	89,417,481 (GRCm39)	missense	possibly damaging	0.82
R5338:Shank3	UTSW	15	89,415,914 (GRCm39)	splice site	probably null
R5494:Shank3	UTSW	15	89,432,441 (GRCm39)	missense	probably damaging	0.99
R5543:Shank3	UTSW	15	89,416,557 (GRCm39)	missense	probably damaging	1.00
R5654:Shank3	UTSW	15	89,405,529 (GRCm39)	missense	probably benign	0.07
R5900:Shank3	UTSW	15	89,387,593 (GRCm39)	missense	probably damaging	1.00
R5906:Shank3	UTSW	15	89,433,119 (GRCm39)	missense	probably damaging	1.00
R6385:Shank3	UTSW	15	89,405,578 (GRCm39)	critical splice donor site	probably null
R6432:Shank3	UTSW	15	89,387,616 (GRCm39)	missense	possibly damaging	0.75
R6724:Shank3	UTSW	15	89,416,656 (GRCm39)	missense	probably damaging	1.00
R6822:Shank3	UTSW	15	89,415,830 (GRCm39)	missense	probably damaging	1.00
R6845:Shank3	UTSW	15	89,432,528 (GRCm39)	missense	probably benign	0.00
R7088:Shank3	UTSW	15	89,387,728 (GRCm39)	splice site	probably null
R7390:Shank3	UTSW	15	89,433,515 (GRCm39)	missense	probably benign	0.05
R7808:Shank3	UTSW	15	89,433,083 (GRCm39)	missense	probably damaging	1.00
R7862:Shank3	UTSW	15	89,389,648 (GRCm39)	missense	possibly damaging	0.73
R8039:Shank3	UTSW	15	89,389,642 (GRCm39)	missense	probably damaging	1.00
R8090:Shank3	UTSW	15	89,389,661 (GRCm39)	critical splice donor site	probably null
R8170:Shank3	UTSW	15	89,433,043 (GRCm39)	missense	possibly damaging	0.69
R8189:Shank3	UTSW	15	89,433,439 (GRCm39)	missense	probably benign
R8246:Shank3	UTSW	15	89,417,549 (GRCm39)	missense	possibly damaging	0.90
R8515:Shank3	UTSW	15	89,387,775 (GRCm39)	nonsense	probably null
R8525:Shank3	UTSW	15	89,431,973 (GRCm39)	missense	probably damaging	0.99
R8537:Shank3	UTSW	15	89,416,418 (GRCm39)	missense	probably damaging	1.00
R8673:Shank3	UTSW	15	89,433,979 (GRCm39)	missense	probably damaging	1.00
R8826:Shank3	UTSW	15	89,433,598 (GRCm39)	missense	probably damaging	1.00
R8932:Shank3	UTSW	15	89,432,986 (GRCm39)	missense	possibly damaging	0.86
R8954:Shank3	UTSW	15	89,433,431 (GRCm39)	missense	possibly damaging	0.88
R8976:Shank3	UTSW	15	89,442,381 (GRCm39)	missense	probably damaging	1.00
R8992:Shank3	UTSW	15	89,432,888 (GRCm39)	missense	possibly damaging	0.95
R8994:Shank3	UTSW	15	89,417,416 (GRCm39)	missense	probably benign	0.27
R9130:Shank3	UTSW	15	89,442,419 (GRCm39)	missense	probably benign	0.19
R9258:Shank3	UTSW	15	89,388,521 (GRCm39)	missense	probably damaging	1.00
R9645:Shank3	UTSW	15	89,409,453 (GRCm39)	missense	possibly damaging	0.96
RF020:Shank3	UTSW	15	89,384,593 (GRCm39)	missense	probably benign	0.20
Z1177:Shank3	UTSW	15	89,442,525 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAACGGTGAGCCTTTGC -3'
(R):5'- CCGCTCTTCATCCAGGAACTTG -3'

Sequencing Primer
(F):5'- CGGTGAGCCTTTGCGATCTC -3'
(R):5'- TCATCCAGGAACTTGCCGGC -3'

Posted On

2016-09-16