Incidental Mutation 'IGL03327:Sh3bp4'
ID 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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03327
Quality Score
Status
Chromosome 1
Chromosomal Location 88998137-89082790 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 89071885 bp (GRCm39)
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]
AlphaFold Q921I6
Predicted Effect probably null
Transcript: ENSMUST00000066279
AA Change: Y244*
SMART Domains Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: Y244*

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
Adcy8 T C 15: 64,792,116 (GRCm39) Y280C probably damaging Het
Anapc1 T C 2: 128,465,854 (GRCm39) T1647A probably benign Het
Ano3 T C 2: 110,527,523 (GRCm39) I562V possibly damaging Het
Ash1l C T 3: 88,930,390 (GRCm39) P1956S probably benign Het
Ccdc9b T C 2: 118,592,151 (GRCm39) N79S probably damaging Het
Cd160 C T 3: 96,712,849 (GRCm39) probably null Het
Chd3 G T 11: 69,241,012 (GRCm39) A1527E probably damaging Het
Clcn1 C T 6: 42,288,153 (GRCm39) T797I probably benign Het
Cntnap3 G A 13: 65,035,582 (GRCm39) Q44* probably null Het
Cntnap4 A G 8: 113,500,208 (GRCm39) D500G probably benign Het
Col6a6 T C 9: 105,644,433 (GRCm39) D1285G possibly damaging Het
Cr2 A T 1: 194,852,067 (GRCm39) V94E probably damaging Het
Dcaf1 T C 9: 106,735,823 (GRCm39) S924P possibly damaging Het
Eif5b T C 1: 38,080,772 (GRCm39) probably benign Het
Fat1 A C 8: 45,403,505 (GRCm39) K85N probably damaging Het
Fnip2 T C 3: 79,425,388 (GRCm39) E69G probably damaging Het
Fzr1 T C 10: 81,205,018 (GRCm39) T300A probably benign Het
Galc A G 12: 98,173,735 (GRCm39) probably benign Het
Gm17079 T C 14: 51,930,420 (GRCm39) T142A possibly damaging Het
Hibch G A 1: 52,959,539 (GRCm39) probably benign Het
Hmmr A G 11: 40,606,242 (GRCm39) C243R probably damaging Het
Il25 T C 14: 55,172,817 (GRCm39) probably benign Het
Kif5b G A 18: 6,222,767 (GRCm39) R355W probably damaging Het
Kifc3 C T 8: 95,835,060 (GRCm39) D242N probably damaging Het
Lig1 T G 7: 13,037,781 (GRCm39) I677S probably damaging Het
Lrig1 G T 6: 94,583,104 (GRCm39) A1004E probably benign Het
Nras A G 3: 102,966,340 (GRCm39) T35A probably damaging Het
Nt5c1b C T 12: 10,424,861 (GRCm39) Q136* probably null Het
Or4f54 A T 2: 111,122,807 (GRCm39) N65Y probably damaging Het
Or6c217 T G 10: 129,738,451 (GRCm39) I43L possibly damaging Het
Or8k1 C T 2: 86,047,618 (GRCm39) W145* probably null Het
Plcb3 A G 19: 6,932,420 (GRCm39) F1080L probably benign Het
Plpp2 T C 10: 79,366,818 (GRCm39) probably null Het
Ptpre G A 7: 135,274,551 (GRCm39) probably null Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Trip11 A T 12: 101,849,677 (GRCm39) N1462K possibly damaging Het
Ttc21b T C 2: 66,068,192 (GRCm39) D278G possibly damaging Het
Virma A G 4: 11,518,984 (GRCm39) T694A probably benign Het
Wdr35 T C 12: 9,028,694 (GRCm39) probably benign Het
Xdh T C 17: 74,223,787 (GRCm39) E535G probably benign Het
Other mutations in Sh3bp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Sh3bp4 APN 1 89,071,682 (GRCm39) missense probably benign
IGL01344:Sh3bp4 APN 1 89,080,958 (GRCm39) missense probably benign
IGL02025:Sh3bp4 APN 1 89,073,008 (GRCm39) missense probably benign 0.40
IGL02035:Sh3bp4 APN 1 89,071,412 (GRCm39) missense probably benign 0.00
IGL02389:Sh3bp4 APN 1 89,072,870 (GRCm39) missense probably damaging 0.99
IGL02430:Sh3bp4 APN 1 89,080,885 (GRCm39) missense probably null 0.00
IGL02546:Sh3bp4 APN 1 89,071,266 (GRCm39) splice site probably benign
I0000:Sh3bp4 UTSW 1 89,065,518 (GRCm39) missense probably benign 0.01
PIT4366001:Sh3bp4 UTSW 1 89,073,156 (GRCm39) missense probably benign
R0128:Sh3bp4 UTSW 1 89,073,036 (GRCm39) missense possibly damaging 0.54
R0130:Sh3bp4 UTSW 1 89,073,036 (GRCm39) missense possibly damaging 0.54
R1370:Sh3bp4 UTSW 1 89,071,494 (GRCm39) missense probably benign 0.43
R1500:Sh3bp4 UTSW 1 89,073,210 (GRCm39) missense probably damaging 1.00
R2269:Sh3bp4 UTSW 1 89,073,314 (GRCm39) missense possibly damaging 0.62
R3407:Sh3bp4 UTSW 1 89,072,769 (GRCm39) missense possibly damaging 0.86
R3408:Sh3bp4 UTSW 1 89,072,769 (GRCm39) missense possibly damaging 0.86
R3615:Sh3bp4 UTSW 1 89,065,427 (GRCm39) missense probably damaging 0.99
R3616:Sh3bp4 UTSW 1 89,065,427 (GRCm39) missense probably damaging 0.99
R3721:Sh3bp4 UTSW 1 89,073,050 (GRCm39) missense possibly damaging 0.93
R3983:Sh3bp4 UTSW 1 89,073,591 (GRCm39) missense probably benign 0.00
R4631:Sh3bp4 UTSW 1 89,071,995 (GRCm39) missense probably damaging 1.00
R5024:Sh3bp4 UTSW 1 89,073,317 (GRCm39) missense probably damaging 1.00
R5040:Sh3bp4 UTSW 1 89,071,962 (GRCm39) missense probably damaging 1.00
R5249:Sh3bp4 UTSW 1 89,065,456 (GRCm39) missense probably damaging 1.00
R5306:Sh3bp4 UTSW 1 89,071,997 (GRCm39) missense probably damaging 0.99
R5319:Sh3bp4 UTSW 1 89,073,072 (GRCm39) missense probably benign
R5908:Sh3bp4 UTSW 1 89,073,605 (GRCm39) missense probably damaging 0.99
R6296:Sh3bp4 UTSW 1 89,073,211 (GRCm39) missense probably damaging 1.00
R6572:Sh3bp4 UTSW 1 89,072,643 (GRCm39) missense possibly damaging 0.78
R6660:Sh3bp4 UTSW 1 89,080,888 (GRCm39) missense possibly damaging 0.62
R6900:Sh3bp4 UTSW 1 89,073,489 (GRCm39) missense probably benign 0.00
R7319:Sh3bp4 UTSW 1 89,080,824 (GRCm39) splice site probably null
R7320:Sh3bp4 UTSW 1 89,073,216 (GRCm39) missense probably damaging 1.00
R7393:Sh3bp4 UTSW 1 89,072,170 (GRCm39) missense possibly damaging 0.79
R7516:Sh3bp4 UTSW 1 89,073,368 (GRCm39) missense probably damaging 1.00
R8402:Sh3bp4 UTSW 1 89,073,037 (GRCm39) missense probably benign 0.00
R8899:Sh3bp4 UTSW 1 89,073,297 (GRCm39) missense probably benign 0.45
R8915:Sh3bp4 UTSW 1 89,080,064 (GRCm39) missense probably damaging 0.99
R8953:Sh3bp4 UTSW 1 89,072,159 (GRCm39) missense probably damaging 0.97
R9137:Sh3bp4 UTSW 1 89,072,647 (GRCm39) nonsense probably null
R9718:Sh3bp4 UTSW 1 89,073,472 (GRCm39) missense probably damaging 0.99
RF016:Sh3bp4 UTSW 1 89,072,744 (GRCm39) missense probably benign
Z1176:Sh3bp4 UTSW 1 89,073,450 (GRCm39) missense probably benign 0.43
Posted On 2016-08-02