Mutagenetix > Incidental Mutation

Incidental Mutation 'R9137:Sh3bp4'

694065

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 89144925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 498 (C498*)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066279]

AlphaFold

Q921I6

Predicted Effect

probably null
Transcript: ENSMUST00000066279
AA Change: C498*

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: C498*

Domain	Start	End	E-Value	Type
SH3	58	113	5.04e-13	SMART
low complexity region	196	212	N/A	INTRINSIC
Pfam:ZU5	318	411	1.8e-12	PFAM
Pfam:SH3_2	657	721	3.5e-13	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,867,448	K299R	probably benign	Het
4931408C20Rik	A	T	1: 26,685,634	I155N	probably benign	Het
Abca12	T	G	1: 71,259,366	I2366L	possibly damaging	Het
Adgrv1	A	G	13: 81,540,014	V1749A	probably damaging	Het
Ano9	C	T	7: 141,104,115	V546M	probably damaging	Het
Atad5	A	T	11: 80,095,655	S523C	probably damaging	Het
Cacna1s	A	T	1: 136,069,006	D115V	possibly damaging	Het
Ccdc18	T	G	5: 108,148,990	C220G	probably damaging	Het
Cfap61	A	C	2: 146,200,765	K1153Q	probably benign	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cntnap5c	T	A	17: 58,294,208		probably benign	Het
Col11a1	A	G	3: 114,061,523	K144R	unknown	Het
Cr2	A	G	1: 195,168,332		probably null	Het
Cyp3a16	A	C	5: 145,469,603	V13G	unknown	Het
E330034G19Rik	A	G	14: 24,296,041	N72D	unknown	Het
Enah	A	G	1: 181,911,595		probably null	Het
Fezf1	T	A	6: 23,246,512		probably benign	Het
Gabrr2	T	A	4: 33,095,571	S487T	probably benign	Het
Gas2l2	G	A	11: 83,425,068	T275M	probably damaging	Het
Hectd4	A	G	5: 121,358,175	K3877E	possibly damaging	Het
Hhla1	G	T	15: 65,923,912	Q482K	probably damaging	Het
Hivep2	A	G	10: 14,128,968	T437A	probably benign	Het
Iars	C	T	13: 49,701,874	T259M	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Itpk1	T	C	12: 102,574,032	E264G	probably benign	Het
Katnb1	G	A	8: 95,097,692	M501I	possibly damaging	Het
Kcna10	G	A	3: 107,195,181	G376E	probably damaging	Het
Kif23	A	T	9: 61,927,431	F397I	probably damaging	Het
Klf14	A	T	6: 30,957,920	C260S	probably damaging	Het
Lgi2	T	A	5: 52,538,019	S533C	probably damaging	Het
Marveld1	A	G	19: 42,148,001	D118G	probably benign	Het
Msln	C	T	17: 25,750,110	A434T	probably benign	Het
Neb	T	C	2: 52,260,490		probably benign	Het
Nes	G	T	3: 87,971,344	G48W	probably damaging	Het
Olfr195	T	A	16: 59,149,272	C141S	probably benign	Het
Osmr	T	A	15: 6,827,228	E479D	probably benign	Het
Otop3	A	G	11: 115,345,042	H500R	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phldb3	C	T	7: 24,611,298		probably benign	Het
Ppp4r3a	T	A	12: 101,055,535	I369F	possibly damaging	Het
Rarres1	T	A	3: 67,515,468		probably benign	Het
Scn4a	A	G	11: 106,323,910	V1287A	probably damaging	Het
Sertad2	A	T	11: 20,648,425	E207V	probably benign	Het
Smtn	T	G	11: 3,522,838	K278T	possibly damaging	Het
Sp140	T	C	1: 85,642,576	S405P	probably damaging	Het
Spem1	A	G	11: 69,821,607	V77A	probably benign	Het
St8sia2	T	G	7: 73,960,906	I210L	probably benign	Het
Stkld1	T	C	2: 26,950,560	I418T	probably benign	Het
Tpcn1	A	G	5: 120,557,925	F88L	probably damaging	Het
Trim66	C	T	7: 109,475,123	V644M	probably damaging	Het
Ttc41	T	C	10: 86,776,622	I1253T	probably benign	Het
Vmn2r86	T	C	10: 130,446,540	N736D	probably damaging	Het
Zfat	T	A	15: 68,179,945	T667S	probably benign	Het
Zfp874a	T	C	13: 67,442,722	E281G	probably damaging	Het

Other mutations in Sh3bp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Sh3bp4	APN	1	89143960	missense	probably benign
IGL01344:Sh3bp4	APN	1	89153236	missense	probably benign
IGL02025:Sh3bp4	APN	1	89145286	missense	probably benign	0.40
IGL02035:Sh3bp4	APN	1	89143690	missense	probably benign	0.00
IGL02389:Sh3bp4	APN	1	89145148	missense	probably damaging	0.99
IGL02430:Sh3bp4	APN	1	89153163	missense	probably null	0.00
IGL02546:Sh3bp4	APN	1	89143544	splice site	probably benign
IGL03327:Sh3bp4	APN	1	89144163	nonsense	probably null
I0000:Sh3bp4	UTSW	1	89137796	missense	probably benign	0.01
PIT4366001:Sh3bp4	UTSW	1	89145434	missense	probably benign
R0128:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R0130:Sh3bp4	UTSW	1	89145314	missense	possibly damaging	0.54
R1370:Sh3bp4	UTSW	1	89143772	missense	probably benign	0.43
R1500:Sh3bp4	UTSW	1	89145488	missense	probably damaging	1.00
R2269:Sh3bp4	UTSW	1	89145592	missense	possibly damaging	0.62
R3407:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3408:Sh3bp4	UTSW	1	89145047	missense	possibly damaging	0.86
R3615:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3616:Sh3bp4	UTSW	1	89137705	missense	probably damaging	0.99
R3721:Sh3bp4	UTSW	1	89145328	missense	possibly damaging	0.93
R3983:Sh3bp4	UTSW	1	89145869	missense	probably benign	0.00
R4631:Sh3bp4	UTSW	1	89144273	missense	probably damaging	1.00
R5024:Sh3bp4	UTSW	1	89145595	missense	probably damaging	1.00
R5040:Sh3bp4	UTSW	1	89144240	missense	probably damaging	1.00
R5249:Sh3bp4	UTSW	1	89137734	missense	probably damaging	1.00
R5306:Sh3bp4	UTSW	1	89144275	missense	probably damaging	0.99
R5319:Sh3bp4	UTSW	1	89145350	missense	probably benign
R5908:Sh3bp4	UTSW	1	89145883	missense	probably damaging	0.99
R6296:Sh3bp4	UTSW	1	89145489	missense	probably damaging	1.00
R6572:Sh3bp4	UTSW	1	89144921	missense	possibly damaging	0.78
R6660:Sh3bp4	UTSW	1	89153166	missense	possibly damaging	0.62
R6900:Sh3bp4	UTSW	1	89145767	missense	probably benign	0.00
R7319:Sh3bp4	UTSW	1	89153102	splice site	probably null
R7320:Sh3bp4	UTSW	1	89145494	missense	probably damaging	1.00
R7393:Sh3bp4	UTSW	1	89144448	missense	possibly damaging	0.79
R7516:Sh3bp4	UTSW	1	89145646	missense	probably damaging	1.00
R8402:Sh3bp4	UTSW	1	89145315	missense	probably benign	0.00
R8899:Sh3bp4	UTSW	1	89145575	missense	probably benign	0.45
R8915:Sh3bp4	UTSW	1	89152342	missense	probably damaging	0.99
R8953:Sh3bp4	UTSW	1	89144437	missense	probably damaging	0.97
R9718:Sh3bp4	UTSW	1	89145750	missense	probably damaging	0.99
RF016:Sh3bp4	UTSW	1	89145022	missense	probably benign
Z1176:Sh3bp4	UTSW	1	89145728	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TACAGCTGGACAACCTGGAAC -3'
(R):5'- AGAAGATCAGACGGCTCACC -3'

Sequencing Primer
(F):5'- TGGAACCCTGCATGTACCTAG -3'
(R):5'- TGAAACCCTCTCACTACTCGGG -3'

Posted On

2022-01-20