Incidental Mutation 'IGL01465:Sorbs3'
ID 88101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sorbs3
Ensembl Gene ENSMUSG00000022091
Gene Name sorbin and SH3 domain containing 3
Synonyms SH3P3, vinexin beta, vinexin alpha, Sh3d4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01465
Quality Score
Chromosome 14
Chromosomal Location 70417917-70449438 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 70432958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022682] [ENSMUST00000227259] [ENSMUST00000227653] [ENSMUST00000227929]
AlphaFold Q9R1Z8
Predicted Effect probably benign
Transcript: ENSMUST00000022682
SMART Domains Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091

Sorb 165 214 6.87e-30 SMART
SH3 447 502 9.24e-21 SMART
SH3 521 578 4.18e-19 SMART
low complexity region 597 613 N/A INTRINSIC
SH3 677 733 8.31e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227259
Predicted Effect probably benign
Transcript: ENSMUST00000227653
Predicted Effect probably benign
Transcript: ENSMUST00000227929
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 an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Sorbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Sorbs3 APN 14 70,428,604 (GRCm39) missense probably damaging 1.00
IGL01144:Sorbs3 APN 14 70,429,017 (GRCm39) missense probably benign 0.04
IGL01155:Sorbs3 APN 14 70,436,790 (GRCm39) missense probably damaging 1.00
IGL02184:Sorbs3 APN 14 70,421,455 (GRCm39) critical splice donor site probably null
R0544:Sorbs3 UTSW 14 70,431,375 (GRCm39) missense probably benign 0.01
R0882:Sorbs3 UTSW 14 70,445,021 (GRCm39) missense probably damaging 1.00
R1445:Sorbs3 UTSW 14 70,431,095 (GRCm39) missense probably benign 0.12
R1493:Sorbs3 UTSW 14 70,430,076 (GRCm39) missense possibly damaging 0.71
R1505:Sorbs3 UTSW 14 70,428,251 (GRCm39) nonsense probably null
R1671:Sorbs3 UTSW 14 70,428,915 (GRCm39) missense possibly damaging 0.92
R2184:Sorbs3 UTSW 14 70,428,880 (GRCm39) critical splice donor site probably null
R3804:Sorbs3 UTSW 14 70,436,800 (GRCm39) splice site probably benign
R4527:Sorbs3 UTSW 14 70,445,066 (GRCm39) missense probably damaging 1.00
R4755:Sorbs3 UTSW 14 70,421,548 (GRCm39) missense probably benign 0.00
R4926:Sorbs3 UTSW 14 70,424,394 (GRCm39) missense probably damaging 1.00
R5257:Sorbs3 UTSW 14 70,422,483 (GRCm39) missense probably benign 0.00
R5304:Sorbs3 UTSW 14 70,422,345 (GRCm39) nonsense probably null
R5328:Sorbs3 UTSW 14 70,418,623 (GRCm39) missense probably damaging 1.00
R5684:Sorbs3 UTSW 14 70,418,671 (GRCm39) missense probably damaging 1.00
R5988:Sorbs3 UTSW 14 70,440,752 (GRCm39) missense probably benign 0.03
R6106:Sorbs3 UTSW 14 70,430,053 (GRCm39) splice site probably null
R7207:Sorbs3 UTSW 14 70,438,934 (GRCm39) missense probably damaging 1.00
R7562:Sorbs3 UTSW 14 70,444,976 (GRCm39) missense probably benign 0.00
R7831:Sorbs3 UTSW 14 70,440,481 (GRCm39) missense possibly damaging 0.93
R7893:Sorbs3 UTSW 14 70,431,365 (GRCm39) missense probably benign 0.35
R8393:Sorbs3 UTSW 14 70,422,360 (GRCm39) missense probably benign 0.11
R8508:Sorbs3 UTSW 14 70,440,396 (GRCm39) missense probably benign 0.04
R8858:Sorbs3 UTSW 14 70,438,850 (GRCm39) missense probably damaging 1.00
R9092:Sorbs3 UTSW 14 70,445,004 (GRCm39) missense probably benign 0.30
R9442:Sorbs3 UTSW 14 70,424,387 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-18