Incidental Mutation 'IGL01144:Sorbs3'
ID 52734
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 # IGL01144
Quality Score
Status
Chromosome 14
Chromosomal Location 70417917-70449438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 70429017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 383 (S383A)
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
AA Change: S383A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022682
Gene: ENSMUSG00000022091
AA Change: S383A

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 benign
Transcript: ENSMUST00000227259
AA Change: S330A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000227653
AA Change: S330A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000227929
AA Change: S383A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cox19 T C 5: 139,330,881 (GRCm39) K10E probably damaging Het
Ddx21 T A 10: 62,434,329 (GRCm39) K143N unknown Het
Dnajb13 T C 7: 100,152,431 (GRCm39) D295G possibly damaging Het
Gm14496 A G 2: 181,636,814 (GRCm39) N91D probably damaging Het
Kidins220 T C 12: 25,060,925 (GRCm39) I801T probably damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nobox A G 6: 43,280,935 (GRCm39) V513A possibly damaging Het
Phactr1 G A 13: 43,191,000 (GRCm39) D157N possibly damaging Het
Plod1 G T 4: 148,017,211 (GRCm39) Q49K probably benign Het
Ppp1r10 C T 17: 36,237,456 (GRCm39) R209C probably benign Het
Prr12 T C 7: 44,696,882 (GRCm39) E1011G unknown Het
Rab27a G A 9: 72,982,850 (GRCm39) probably null Het
Rbbp6 T A 7: 122,575,169 (GRCm39) D59E possibly damaging Het
Sbf2 G T 7: 109,929,110 (GRCm39) T1432K probably damaging Het
Spta1 T A 1: 174,014,829 (GRCm39) D436E probably benign Het
Tbc1d4 A T 14: 101,682,099 (GRCm39) Y1266N probably damaging Het
Ttn A T 2: 76,551,173 (GRCm39) Y29660* probably null Het
Ubr2 A G 17: 47,268,247 (GRCm39) I989T probably damaging Het
Zkscan14 G T 5: 145,132,806 (GRCm39) R242S probably benign Het
Other mutations in Sorbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Sorbs3 APN 14 70,428,604 (GRCm39) missense probably damaging 1.00
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
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 2013-06-21