Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03327:Sh3bp4'

416699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3bp4

Ensembl Gene

ENSMUSG00000036206

Gene Name

SH3-domain binding protein 4

Synonyms

BOG25

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

89070415-89155068 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 89144163 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 244 (Y244*)

Ref Sequence

ENSEMBL: ENSMUSP00000067581 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000066279
AA Change: Y244*

SMART Domains

Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: Y244*

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

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,761,670	N79S	probably damaging	Het
Adcy8	T	C	15: 64,920,267	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,623,934	T1647A	probably benign	Het
Ano3	T	C	2: 110,697,178	I562V	possibly damaging	Het
Ash1l	C	T	3: 89,023,083	P1956S	probably benign	Het
Cd160	C	T	3: 96,805,533		probably null	Het
Chd3	G	T	11: 69,350,186	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cntnap3	G	A	13: 64,887,768	Q44*	probably null	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Col6a6	T	C	9: 105,767,234	D1285G	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,858,624	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,041,691		probably benign	Het
Fat1	A	C	8: 44,950,468	K85N	probably damaging	Het
Fnip2	T	C	3: 79,518,081	E69G	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Galc	A	G	12: 98,207,476		probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Hibch	G	A	1: 52,920,380		probably benign	Het
Hmmr	A	G	11: 40,715,415	C243R	probably damaging	Het
Il25	T	C	14: 54,935,360		probably benign	Het
Kif5b	G	A	18: 6,222,767	R355W	probably damaging	Het
Kifc3	C	T	8: 95,108,432	D242N	probably damaging	Het
Lig1	T	G	7: 13,303,855	I677S	probably damaging	Het
Lrig1	G	T	6: 94,606,123	A1004E	probably benign	Het
Nras	A	G	3: 103,059,024	T35A	probably damaging	Het
Nt5c1b	C	T	12: 10,374,861	Q136*	probably null	Het
Olfr1046	C	T	2: 86,217,274	W145*	probably null	Het
Olfr1278	A	T	2: 111,292,462	N65Y	probably damaging	Het
Olfr815	T	G	10: 129,902,582	I43L	possibly damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Plpp2	T	C	10: 79,530,984		probably null	Het
Ptpre	G	A	7: 135,672,822		probably null	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Trip11	A	T	12: 101,883,418	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Wdr35	T	C	12: 8,978,694		probably benign	Het
Xdh	T	C	17: 73,916,792	E535G	probably benign	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
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	intron	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
RF016:Sh3bp4	UTSW	1	89145022	missense	probably benign
Z1176:Sh3bp4	UTSW	1	89145728

Posted On

2016-08-02