Incidental Mutation 'R5306:Sh3bp4'
ID 404536
Institutional Source Beutler Lab
Gene Symbol Sh3bp4
Ensembl Gene ENSMUSG00000036206
Gene Name SH3-domain binding protein 4
Synonyms BOG25
MMRRC Submission 042889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5306 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 88998137-89082790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89071997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 282 (F282L)
Ref Sequence ENSEMBL: ENSMUSP00000067581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066279]
AlphaFold Q921I6
Predicted Effect probably damaging
Transcript: ENSMUST00000066279
AA Change: F282L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: F282L

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 0.7617 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (64/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,324,792 (GRCm39) D554V probably damaging Het
Ankrd44 G A 1: 54,965,362 (GRCm39) probably benign Het
Api5 A T 2: 94,253,811 (GRCm39) C297* probably null Het
Asb14 G A 14: 26,633,866 (GRCm39) C357Y probably damaging Het
Brd10 A G 19: 29,707,230 (GRCm39) probably benign Het
Brdt T A 5: 107,493,010 (GRCm39) D112E probably damaging Het
Capsl C A 15: 9,457,876 (GRCm39) Q32K probably benign Het
Ccdc106 A G 7: 5,061,096 (GRCm39) D81G probably damaging Het
Ccdc121rt3 T C 5: 112,502,910 (GRCm39) R265G probably benign Het
Cep104 C A 4: 154,090,699 (GRCm39) T884K probably benign Het
Cmbl T C 15: 31,582,215 (GRCm39) Y71H probably damaging Het
Crybg3 A T 16: 59,380,356 (GRCm39) probably benign Het
Dynlt1c T C 17: 6,869,210 (GRCm39) M1T probably null Het
Erbb2 T C 11: 98,319,032 (GRCm39) S574P probably benign Het
Exosc10 T C 4: 148,646,849 (GRCm39) V153A probably benign Het
Faxc G T 4: 21,931,557 (GRCm39) probably benign Het
Fcgbp A G 7: 27,791,243 (GRCm39) T835A probably damaging Het
Fmo5 G T 3: 97,549,076 (GRCm39) M241I probably benign Het
Gabra1 A C 11: 42,024,379 (GRCm39) I432S probably benign Het
Gfap A G 11: 102,786,574 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12185 T A 11: 48,806,382 (GRCm39) M270L probably benign Het
Gm14443 T C 2: 175,011,372 (GRCm39) N358S possibly damaging Het
Gpr3 C T 4: 132,938,490 (GRCm39) V61M probably damaging Het
Herc2 C T 7: 55,834,709 (GRCm39) T3229M probably damaging Het
Ifit3 A G 19: 34,565,207 (GRCm39) Y251C probably damaging Het
Inf2 G A 12: 112,567,987 (GRCm39) V180I probably benign Het
Ints11 T C 4: 155,959,665 (GRCm39) Y91H probably damaging Het
Ints4 A C 7: 97,158,885 (GRCm39) D419A probably damaging Het
Kmt2e T C 5: 23,704,331 (GRCm39) S1175P probably damaging Het
Mki67 A T 7: 135,315,730 (GRCm39) V44E probably damaging Het
Mrgprb13 A T 7: 47,961,940 (GRCm39) noncoding transcript Het
Myh2 T C 11: 67,077,382 (GRCm39) L839P probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4l1 A G 14: 50,167,007 (GRCm39) probably benign Het
Or6c70 A C 10: 129,709,810 (GRCm39) I272R probably damaging Het
Pced1a T A 2: 130,261,091 (GRCm39) H422L probably benign Het
Plpp1 G T 13: 112,988,089 (GRCm39) probably null Het
Plxna4 T C 6: 32,183,056 (GRCm39) Y949C probably damaging Het
Polg2 G A 11: 106,669,796 (GRCm39) T158I probably damaging Het
Prss38 A T 11: 59,263,821 (GRCm39) I297K probably benign Het
Psph A G 5: 129,846,431 (GRCm39) L98P probably damaging Het
Rab11b G A 17: 33,979,243 (GRCm39) probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Serpine3 G A 14: 62,908,382 (GRCm39) A137T probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slco2b1 T A 7: 99,338,198 (GRCm39) Y109F possibly damaging Het
Slfn10-ps T A 11: 82,926,355 (GRCm39) noncoding transcript Het
Smc5 A G 19: 23,237,009 (GRCm39) probably null Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Stxbp5 T C 10: 9,675,735 (GRCm39) E628G probably damaging Het
Tmem236 A T 2: 14,223,975 (GRCm39) K255* probably null Het
Ttc29 T A 8: 78,978,539 (GRCm39) probably null Het
Tyr A G 7: 87,087,222 (GRCm39) I430T probably damaging Het
Uckl1 A G 2: 181,216,160 (GRCm39) probably null Het
Vmn2r52 A C 7: 9,904,672 (GRCm39) I389R possibly damaging Het
Wdr62 A T 7: 29,964,688 (GRCm39) F352Y possibly damaging Het
Wdr70 T C 15: 7,953,754 (GRCm39) D379G probably benign Het
Zfp408 T A 2: 91,476,690 (GRCm39) M155L probably benign Het
Zfp459 T A 13: 67,561,249 (GRCm39) Q66H probably damaging Het
Zfp870 C A 17: 33,102,627 (GRCm39) G234V 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
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'- TTTGATGAGCTCCCAGCCAC -3'
(R):5'- GAAATCTGCTGTGTCTCCCC -3'

Sequencing Primer
(F):5'- ACCAATGGACTCCAGGTGG -3'
(R):5'- CCTCTGGCACATGGATACTGATG -3'
Posted On 2016-07-22