Incidental Mutation 'IGL02184:Sorbs3'
ID 284290
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 # IGL02184
Quality Score
Status
Chromosome 14
Chromosomal Location 70417917-70449438 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 70421455 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 null
Transcript: ENSMUST00000022682
SMART Domains Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000227259
Predicted Effect probably null
Transcript: ENSMUST00000227653
Predicted Effect probably null
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Camk2d A T 3: 126,591,422 (GRCm39) R297S probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Cytip T C 2: 58,023,750 (GRCm39) S357G probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fbxo36 A G 1: 84,858,885 (GRCm39) S57G probably benign Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or4c58 G A 2: 89,674,729 (GRCm39) A196V probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Pmm2 T A 16: 8,455,668 (GRCm39) D10E possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V 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
IGL01465:Sorbs3 APN 14 70,432,958 (GRCm39) splice site probably benign
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 2015-04-16