Incidental Mutation 'IGL02861:Stap1'
ID 362174
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: 0.164) question?
Stock # IGL02861
Quality Score
Status
Chromosome 5
Chromosomal Location 86219446-86251859 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 86219824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031171] [ENSMUST00000198435]
AlphaFold Q9JM90
Predicted Effect probably benign
Transcript: ENSMUST00000031171
SMART Domains Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254

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: ENSMUST00000151556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197417
Predicted Effect probably benign
Transcript: ENSMUST00000198435
SMART Domains Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254

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: ENSMUST00000199619
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Bclaf3 T C X: 158,338,524 (GRCm39) I457T possibly damaging Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cd72 G A 4: 43,448,332 (GRCm39) A316V probably benign Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Il27 A T 7: 126,191,821 (GRCm39) L77Q probably damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Mterf2 A C 10: 84,956,195 (GRCm39) V143G probably damaging Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Zfpm2 A C 15: 40,966,662 (GRCm39) K917T probably damaging 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
IGL02117:Stap1 APN 5 86,234,552 (GRCm39) missense possibly damaging 0.92
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
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 2015-12-18