Incidental Mutation 'IGL01344:Sh3bp4'
ID 74999
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01344
Quality Score
Status
Chromosome 1
Chromosomal Location 89070415-89155068 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89153236 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 925 (N925S)
Ref Sequence ENSEMBL: ENSMUSP00000067581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066279]
AlphaFold Q921I6
Predicted Effect probably benign
Transcript: ENSMUST00000066279
AA Change: N925S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: N925S

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Aak1 A G 6: 86,946,157 K237R possibly damaging Het
Antxrl A C 14: 34,075,597 M510L probably benign Het
Bdp1 T C 13: 100,078,080 D417G probably benign Het
C3 T G 17: 57,224,880 N250T probably benign Het
Cacna2d1 T A 5: 16,370,631 I1073K probably benign Het
Ccin A T 4: 43,984,069 N159Y probably damaging Het
Cep76 T C 18: 67,623,397 T455A possibly damaging Het
Chaf1a T A 17: 56,064,104 V663E probably damaging Het
Chit1 T C 1: 134,151,314 F454S probably damaging Het
Clasp2 A G 9: 113,813,292 probably null Het
Ctcfl G T 2: 173,094,734 A615E possibly damaging Het
Ddx58 G A 4: 40,208,883 T698I probably damaging Het
Edaradd T C 13: 12,478,490 D107G probably damaging Het
Efl1 T C 7: 82,681,480 probably benign Het
Eps15l1 A G 8: 72,382,325 probably null Het
Fahd2a T C 2: 127,442,067 K18E probably benign Het
Fam166a A T 2: 25,220,333 I86F possibly damaging Het
Fbxl20 A T 11: 98,100,100 C147* probably null Het
Gsap G T 5: 21,242,883 probably null Het
Gtse1 A T 15: 85,862,066 probably null Het
Kcp A T 6: 29,498,951 probably null Het
Llgl2 A G 11: 115,851,193 D687G probably benign Het
Mcpt8 T A 14: 56,083,945 I21F probably damaging Het
Met C A 6: 17,547,032 S888Y probably benign Het
Mkl1 T C 15: 81,016,302 T663A probably damaging Het
Ngf A G 3: 102,520,312 T130A probably benign Het
Otud7b T A 3: 96,150,980 probably benign Het
Preb C T 5: 30,956,044 V349M probably damaging Het
Prmt1 G T 7: 44,977,635 probably benign Het
Psg27 T C 7: 18,560,417 D355G probably damaging Het
Ptprt T A 2: 161,551,817 D1209V probably damaging Het
Skint3 T A 4: 112,290,322 M414K possibly damaging Het
Skor1 A T 9: 63,142,278 S787R possibly damaging Het
Slc12a7 T A 13: 73,792,737 I288N probably damaging Het
Smg1 A G 7: 118,190,836 probably benign Het
Tpp2 C T 1: 43,983,262 T940I probably benign Het
Trappc11 A T 8: 47,519,704 I278N probably damaging Het
Umodl1 G A 17: 30,996,264 V1021I probably damaging Het
Usp24 T C 4: 106,379,385 S1059P possibly damaging Het
Other mutations in Sh3bp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Sh3bp4 APN 1 89143960 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
R9137:Sh3bp4 UTSW 1 89144925 nonsense probably null
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
Posted On 2013-10-07