Incidental Mutation 'R9137:Sh3bp4'
ID 694065
Institutional Source Beutler Lab
Gene Symbol Sh3bp4
Ensembl Gene ENSMUSG00000036206
Gene Name SH3-domain binding protein 4
Synonyms BOG25
MMRRC Submission 068932-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9137 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 88998137-89082790 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89072647 bp (GRCm39)
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*

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
Meta Mutation Damage Score 0.9756 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,685,312 (GRCm39) K299R probably benign Het
Abca12 T G 1: 71,298,525 (GRCm39) I2366L possibly damaging Het
Adgrv1 A G 13: 81,688,133 (GRCm39) V1749A probably damaging Het
Ano9 C T 7: 140,684,028 (GRCm39) V546M probably damaging Het
Atad5 A T 11: 79,986,481 (GRCm39) S523C probably damaging Het
Cacna1s A T 1: 135,996,744 (GRCm39) D115V possibly damaging Het
Ccdc18 T G 5: 108,296,856 (GRCm39) C220G probably damaging Het
Cfap61 A C 2: 146,042,685 (GRCm39) K1153Q probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cntnap5c T A 17: 58,601,203 (GRCm39) probably benign Het
Col11a1 A G 3: 113,855,172 (GRCm39) K144R unknown Het
Cr2 A G 1: 194,850,640 (GRCm39) probably null Het
Cyp3a16 A C 5: 145,406,413 (GRCm39) V13G unknown Het
E330034G19Rik A G 14: 24,346,109 (GRCm39) N72D unknown Het
Enah A G 1: 181,739,160 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,511 (GRCm39) probably benign Het
Gabrr2 T A 4: 33,095,571 (GRCm39) S487T probably benign Het
Gas2l2 G A 11: 83,315,894 (GRCm39) T275M probably damaging Het
Hectd4 A G 5: 121,496,238 (GRCm39) K3877E possibly damaging Het
Hhla1 G T 15: 65,795,761 (GRCm39) Q482K probably damaging Het
Hivep2 A G 10: 14,004,712 (GRCm39) T437A probably benign Het
Iars1 C T 13: 49,855,350 (GRCm39) T259M probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itpk1 T C 12: 102,540,291 (GRCm39) E264G probably benign Het
Katnb1 G A 8: 95,824,320 (GRCm39) M501I possibly damaging Het
Kcna10 G A 3: 107,102,497 (GRCm39) G376E probably damaging Het
Kif23 A T 9: 61,834,713 (GRCm39) F397I probably damaging Het
Klf14 A T 6: 30,934,855 (GRCm39) C260S probably damaging Het
Lgi2 T A 5: 52,695,361 (GRCm39) S533C probably damaging Het
Marveld1 A G 19: 42,136,440 (GRCm39) D118G probably benign Het
Msln C T 17: 25,969,084 (GRCm39) A434T probably benign Het
Neb T C 2: 52,150,502 (GRCm39) probably benign Het
Nes G T 3: 87,878,651 (GRCm39) G48W probably damaging Het
Or5k3 T A 16: 58,969,635 (GRCm39) C141S probably benign Het
Osmr T A 15: 6,856,709 (GRCm39) E479D probably benign Het
Otop3 A G 11: 115,235,868 (GRCm39) H500R possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phldb3 C T 7: 24,310,723 (GRCm39) probably benign Het
Ppp4r3a T A 12: 101,021,794 (GRCm39) I369F possibly damaging Het
Rarres1 T A 3: 67,422,801 (GRCm39) probably benign Het
Scn4a A G 11: 106,214,736 (GRCm39) V1287A probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Smtn T G 11: 3,472,838 (GRCm39) K278T possibly damaging Het
Sp140 T C 1: 85,570,297 (GRCm39) S405P probably damaging Het
Spata31e2 A T 1: 26,724,715 (GRCm39) I155N probably benign Het
Spem1 A G 11: 69,712,433 (GRCm39) V77A probably benign Het
St8sia2 T G 7: 73,610,654 (GRCm39) I210L probably benign Het
Stkld1 T C 2: 26,840,572 (GRCm39) I418T probably benign Het
Tpcn1 A G 5: 120,695,990 (GRCm39) F88L probably damaging Het
Trim66 C T 7: 109,074,330 (GRCm39) V644M probably damaging Het
Ttc41 T C 10: 86,612,486 (GRCm39) I1253T probably benign Het
Vmn2r86 T C 10: 130,282,409 (GRCm39) N736D probably damaging Het
Zfat T A 15: 68,051,794 (GRCm39) T667S probably benign Het
Zfp874a T C 13: 67,590,841 (GRCm39) E281G probably damaging 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
IGL03327:Sh3bp4 APN 1 89,071,885 (GRCm39) nonsense probably null
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
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
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