Incidental Mutation 'IGL02210:Stap1'
ID 284689
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 # IGL02210
Quality Score
Status
Chromosome 5
Chromosomal Location 86219446-86251859 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 86225920 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 null
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: ENSMUST00000082925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151556
Predicted Effect probably null
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Acvr2a A T 2: 48,788,538 (GRCm39) H422L probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Ankrd1 T C 19: 36,095,714 (GRCm39) D86G probably damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Crybb2 T A 5: 113,206,253 (GRCm39) Q194L probably damaging Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Hps5 T C 7: 46,435,994 (GRCm39) Y184C probably benign Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Uxs1 T C 1: 43,789,446 (GRCm39) Y403C possibly damaging Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E 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
IGL02117:Stap1 APN 5 86,234,552 (GRCm39) missense possibly damaging 0.92
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