Incidental Mutation 'IGL02117:Stap1'
ID 280425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stap1
Ensembl Gene ENSMUSG00000029254
Gene Name signal transducing adaptor family member 1
Synonyms STAP-1, Brdg1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # IGL02117
Quality Score
Status
Chromosome 5
Chromosomal Location 86219446-86251859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86234552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 98 (I98S)
Ref Sequence ENSEMBL: ENSMUSP00000031171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031171] [ENSMUST00000198435]
AlphaFold Q9JM90
Predicted Effect possibly damaging
Transcript: ENSMUST00000031171
AA Change: I98S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
AA Change: I98S

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
PH 26 123 5.01e-5 SMART
low complexity region 159 166 N/A INTRINSIC
SH2 177 264 3.71e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151556
Predicted Effect possibly damaging
Transcript: ENSMUST00000198435
AA Change: I136S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: I136S

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
PH 26 123 5.01e-5 SMART
low complexity region 159 166 N/A INTRINSIC
SH2 177 264 3.71e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Stap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Stap1 APN 5 86,229,132 (GRCm39) missense probably benign 0.01
IGL01861:Stap1 APN 5 86,244,383 (GRCm39) missense possibly damaging 0.46
IGL02210:Stap1 APN 5 86,225,920 (GRCm39) critical splice donor site probably null
IGL02374:Stap1 APN 5 86,244,410 (GRCm39) missense probably damaging 1.00
IGL02861:Stap1 APN 5 86,219,824 (GRCm39) splice site probably benign
IGL03368:Stap1 APN 5 86,238,827 (GRCm39) missense probably damaging 0.97
R0520:Stap1 UTSW 5 86,238,823 (GRCm39) missense probably benign 0.27
R0701:Stap1 UTSW 5 86,242,667 (GRCm39) splice site probably null
R4674:Stap1 UTSW 5 86,229,044 (GRCm39) missense probably benign 0.04
R5371:Stap1 UTSW 5 86,244,375 (GRCm39) missense possibly damaging 0.90
R5373:Stap1 UTSW 5 86,238,787 (GRCm39) missense possibly damaging 0.94
R5374:Stap1 UTSW 5 86,238,787 (GRCm39) missense possibly damaging 0.94
R5866:Stap1 UTSW 5 86,225,906 (GRCm39) missense probably benign 0.00
R6905:Stap1 UTSW 5 86,238,781 (GRCm39) missense possibly damaging 0.94
R7573:Stap1 UTSW 5 86,238,854 (GRCm39) missense possibly damaging 0.91
R8470:Stap1 UTSW 5 86,242,602 (GRCm39) missense possibly damaging 0.46
Posted On 2015-04-16