Incidental Mutation 'R3408:Sh3bp4'
ID 258350
Institutional Source Beutler Lab
Gene Symbol Sh3bp4
Ensembl Gene ENSMUSG00000036206
Gene Name SH3-domain binding protein 4
Synonyms BOG25
MMRRC Submission 040626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3408 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 88998137-89082790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89072769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 539 (C539F)
Ref Sequence ENSEMBL: ENSMUSP00000067581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066279]
AlphaFold Q921I6
Predicted Effect possibly damaging
Transcript: ENSMUST00000066279
AA Change: C539F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: C539F

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 89.1%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik C T 2: 155,845,840 (GRCm39) V6I probably benign Het
Adam17 T A 12: 21,379,119 (GRCm39) K643N probably damaging Het
Adgrg4 A T X: 56,013,487 (GRCm39) I2838F probably damaging Het
Aox1 G A 1: 58,382,827 (GRCm39) V1036I probably benign Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cacnb3 T C 15: 98,539,068 (GRCm39) V167A probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
E2f7 C T 10: 110,620,578 (GRCm39) T865M possibly damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Ephb3 T A 16: 21,038,254 (GRCm39) Y341N probably damaging Het
Frem1 A T 4: 82,930,223 (GRCm39) V241E probably damaging Het
Gpi1 A G 7: 33,902,104 (GRCm39) V500A probably damaging Het
Ilk A T 7: 105,390,181 (GRCm39) M155L probably benign Het
Ipo8 T C 6: 148,723,207 (GRCm39) D70G probably benign Het
Macf1 T C 4: 123,275,574 (GRCm39) Q6283R probably damaging Het
Mfsd1 T A 3: 67,504,046 (GRCm39) M346K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A T 7: 97,730,294 (GRCm39) F758Y probably benign Het
Nalcn T A 14: 123,834,029 (GRCm39) S49C probably null Het
Ncan G A 8: 70,564,801 (GRCm39) T271I probably damaging Het
Nr5a2 C T 1: 136,868,236 (GRCm39) A299T probably benign Het
Or10ag60 A T 2: 87,438,220 (GRCm39) I163L probably benign Het
Or4g16 A T 2: 111,136,850 (GRCm39) Q100L probably damaging Het
Or51q1c G T 7: 103,652,550 (GRCm39) E23* probably null Het
Or9s23 A G 1: 92,501,675 (GRCm39) T261A probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plch1 A G 3: 63,606,768 (GRCm39) probably benign Het
Plekhg5 A G 4: 152,192,749 (GRCm39) T559A probably damaging Het
Rfx2 G T 17: 57,110,526 (GRCm39) D153E probably benign Het
Slco1b2 A T 6: 141,621,982 (GRCm39) H479L probably benign Het
Spmip9 C T 6: 70,892,690 (GRCm39) S19N possibly damaging Het
Tmem150b G T 7: 4,727,339 (GRCm39) F55L probably damaging Het
Vmn1r60 A T 7: 5,548,148 (GRCm39) probably null Het
Vmn2r80 C T 10: 79,004,227 (GRCm39) L147F possibly damaging Het
Vps50 A T 6: 3,600,212 (GRCm39) K890N 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
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
Predicted Primers PCR Primer
(F):5'- GGGTCTCTATGGTCCCAAACAC -3'
(R):5'- CGGAGTCTGGACACAAAACTG -3'

Sequencing Primer
(F):5'- CATCCATCCATCCTTCAAGACAGTAG -3'
(R):5'- CAAAACTGCGTGAGGATCGTGTC -3'
Posted On 2015-01-23