Incidental Mutation 'R6905:Stap1'
ID 538730
Institutional Source Beutler Lab
Gene Symbol Stap1
Ensembl Gene ENSMUSG00000029254
Gene Name signal transducing adaptor family member 1
Synonyms STAP-1, Brdg1
MMRRC Submission 044997-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6905 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 86219446-86251859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86238781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 150 (E150K)
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: E150K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
AA Change: E150K

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 possibly damaging
Transcript: ENSMUST00000198435
AA Change: E188K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: E188K

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
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
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
1700025G04Rik G T 1: 151,856,189 (GRCm39) N59K probably damaging Het
Abi3bp A G 16: 56,394,880 (GRCm39) D196G probably damaging Het
Ankrd44 A G 1: 54,831,653 (GRCm39) F50S probably damaging Het
Arid4a C T 12: 71,108,318 (GRCm39) A41V probably benign Het
Cdk11b A T 4: 155,726,065 (GRCm39) probably benign Het
Chrm5 C A 2: 112,309,901 (GRCm39) C405F probably benign Het
Cimip2a A G 2: 25,110,491 (GRCm39) I100V probably benign Het
Col6a4 A T 9: 105,937,517 (GRCm39) probably null Het
Copb1 A C 7: 113,853,125 (GRCm39) I24S probably benign Het
Ctsh A T 9: 89,944,819 (GRCm39) K83N probably damaging Het
Dgkd A G 1: 87,863,097 (GRCm39) E48G probably damaging Het
Dis3l2 A G 1: 86,972,561 (GRCm39) T657A probably benign Het
Flrt1 T A 19: 7,072,757 (GRCm39) K597* probably null Het
Ifit1bl2 T C 19: 34,596,990 (GRCm39) S209G possibly damaging Het
Ifrd2 T C 9: 107,465,089 (GRCm39) M1T probably null Het
Ighv8-12 T C 12: 115,611,705 (GRCm39) Y73C probably benign Het
Klhl21 C A 4: 152,094,184 (GRCm39) A262E probably benign Het
L3mbtl4 A T 17: 69,084,883 (GRCm39) Y598F probably benign Het
Lad1 A G 1: 135,755,618 (GRCm39) K298R probably benign Het
Map2k2 A G 10: 80,944,701 (GRCm39) D71G probably damaging Het
Megf8 T A 7: 25,037,357 (GRCm39) H752Q probably benign Het
Mms22l A T 4: 24,503,107 (GRCm39) M200L probably benign Het
Mup5 C A 4: 61,751,340 (GRCm39) D103Y possibly damaging Het
Nes C T 3: 87,885,985 (GRCm39) P1371S probably damaging Het
Or4c10b A T 2: 89,712,052 (GRCm39) D294V probably benign Het
Or4f14c A T 2: 111,940,703 (GRCm39) M298K probably damaging Het
Or52z14 A T 7: 103,253,574 (GRCm39) T238S probably benign Het
Osbpl3 T C 6: 50,328,862 (GRCm39) I114V probably damaging Het
Pank3 T C 11: 35,667,239 (GRCm39) Y119H probably benign Het
Pcdhb15 C T 18: 37,607,748 (GRCm39) L327F possibly damaging Het
Pnpla8 T C 12: 44,330,336 (GRCm39) V78A probably damaging Het
Rbm14 A G 19: 4,853,264 (GRCm39) probably benign Het
Rev3l G A 10: 39,693,323 (GRCm39) V468M probably benign Het
Ripk1 A G 13: 34,211,973 (GRCm39) I428V probably benign Het
Rps5 T C 7: 12,659,785 (GRCm39) V147A probably damaging Het
Rps6ka2 T A 17: 7,495,340 (GRCm39) I9N probably damaging Het
Samd9l A T 6: 3,375,387 (GRCm39) F625I probably damaging Het
Sh3bp1 A G 15: 78,789,230 (GRCm39) D196G probably benign Het
Slc66a1 A G 4: 139,033,752 (GRCm39) probably null Het
Smg7 A T 1: 152,725,757 (GRCm39) probably null Het
Ticrr T C 7: 79,315,598 (GRCm39) I284T probably benign Het
Tm4sf1 T C 3: 57,202,330 (GRCm39) probably benign Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Trav7d-4 G T 14: 53,007,770 (GRCm39) A88S possibly damaging Het
Vwde T C 6: 13,205,926 (GRCm39) E207G 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCATAAGTTTTCAATGGTTATCATGC -3'
(R):5'- AGTGCTTCTCATTCTTGTGCTA -3'

Sequencing Primer
(F):5'- AAACACTGTAGCTCTCATG -3'
(R):5'- TTTGCAGCCCTAAGAGAATGC -3'
Posted On 2018-11-06