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 Brdg1, STAP-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL02210
Quality Score
Status
Chromosome 5
Chromosomal Location 86071746-86106125 bp(+) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 86078061 bp (GRCm38)
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: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Stap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Stap1 APN 5 86081273 missense probably benign 0.01
IGL01861:Stap1 APN 5 86096524 missense possibly damaging 0.46
IGL02117:Stap1 APN 5 86086693 missense possibly damaging 0.92
IGL02374:Stap1 APN 5 86096551 missense probably damaging 1.00
IGL02861:Stap1 APN 5 86071965 splice site probably benign
IGL03368:Stap1 APN 5 86090968 missense probably damaging 0.97
R0520:Stap1 UTSW 5 86090964 missense probably benign 0.27
R0701:Stap1 UTSW 5 86094808 splice site probably null
R4674:Stap1 UTSW 5 86081185 missense probably benign 0.04
R5371:Stap1 UTSW 5 86096516 missense possibly damaging 0.90
R5373:Stap1 UTSW 5 86090928 missense possibly damaging 0.94
R5374:Stap1 UTSW 5 86090928 missense possibly damaging 0.94
R5866:Stap1 UTSW 5 86078047 missense probably benign 0.00
R6905:Stap1 UTSW 5 86090922 missense possibly damaging 0.94
R7573:Stap1 UTSW 5 86090995 missense possibly damaging 0.91
R8470:Stap1 UTSW 5 86094743 missense possibly damaging 0.46
Posted On 2015-04-16