Incidental Mutation 'R5371:Stap1'
ID 428716
Institutional Source Beutler Lab
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 # R5371 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 86219446-86251859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86244375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 214 (F214Y)
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: F214Y

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
AA Change: F214Y

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: ENSMUST00000138076
Predicted Effect possibly damaging
Transcript: ENSMUST00000198435
AA Change: F252Y

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: F252Y

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
Meta Mutation Damage Score 0.1036 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 96% (71/74)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,261,918 (GRCm39) noncoding transcript Het
Arpp21 G A 9: 111,895,000 (GRCm39) P755S probably benign Het
Aspm C T 1: 139,398,279 (GRCm39) Q982* probably null Het
Atp5f1e C T 2: 174,304,319 (GRCm39) probably benign Het
BC024139 A G 15: 76,004,886 (GRCm39) *598Q probably null Het
Bcl6 T A 16: 23,788,736 (GRCm39) D544V possibly damaging Het
Ccdc9 A T 7: 16,014,655 (GRCm39) D195E probably damaging Het
Cd38 A G 5: 44,026,225 (GRCm39) N3S probably benign Het
Cfap46 A T 7: 139,212,097 (GRCm39) probably null Het
Cmtr2 T C 8: 110,948,044 (GRCm39) F118S probably damaging Het
Cyp7a1 A G 4: 6,268,378 (GRCm39) F449S probably damaging Het
Dnah10 C T 5: 124,820,693 (GRCm39) A509V probably benign Het
Dsp A T 13: 38,378,865 (GRCm39) Q1271L probably damaging Het
Edar A C 10: 58,443,274 (GRCm39) V284G possibly damaging Het
Fdft1 A G 14: 63,388,750 (GRCm39) V294A probably damaging Het
Gba1 T A 3: 89,112,778 (GRCm39) V140E probably benign Het
Gm12185 A T 11: 48,806,566 (GRCm39) S208R probably benign Het
Gm21028 C A 7: 42,227,946 (GRCm39) E23* probably null Het
Gm6871 A G 7: 41,222,992 (GRCm39) L32P probably benign Het
Hhip C T 8: 80,724,220 (GRCm39) V341M probably damaging Het
Kcnq2 C A 2: 180,776,813 (GRCm39) V25L probably damaging Het
Krit1 C A 5: 3,881,551 (GRCm39) H548N probably damaging Het
Kynu C T 2: 43,479,406 (GRCm39) A100V probably benign Het
Lpp T C 16: 24,708,554 (GRCm39) C295R probably damaging Het
Mdp1 A G 14: 55,897,806 (GRCm39) V9A probably damaging Het
Mllt3 T C 4: 87,759,093 (GRCm39) I318M possibly damaging Het
Mpzl3 A G 9: 44,966,510 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mup8 A G 4: 60,222,423 (GRCm39) V16A probably benign Het
Myh13 T A 11: 67,235,616 (GRCm39) probably null Het
Myh4 A T 11: 67,150,150 (GRCm39) Q1869L probably damaging Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Olfr908 CACAACAACA CACAACA 9: 38,427,434 (GRCm39) probably benign Het
Or13c7b A T 4: 43,821,058 (GRCm39) M101K probably damaging Het
Or51h7 T A 7: 102,591,719 (GRCm39) M22L probably benign Het
Or5d43 C A 2: 88,104,976 (GRCm39) C139F probably damaging Het
Parp11 T C 6: 127,447,755 (GRCm39) F30L probably damaging Het
Pcdhgc3 A T 18: 37,941,507 (GRCm39) D636V possibly damaging Het
Ppp1cb T C 5: 32,643,332 (GRCm39) F234L probably damaging Het
Rras2 A T 7: 113,649,572 (GRCm39) V164E probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Scg3 T C 9: 75,568,583 (GRCm39) T390A probably damaging Het
Shh C A 5: 28,671,688 (GRCm39) C25F probably damaging Het
Slc24a1 T C 9: 64,856,550 (GRCm39) K119R unknown Het
Speg G T 1: 75,408,037 (GRCm39) R3244L possibly damaging Het
Spns1 A G 7: 125,972,936 (GRCm39) probably benign Het
Sptbn4 A C 7: 27,059,166 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,600 (GRCm39) M76K unknown Het
Tjp1 A T 7: 64,963,059 (GRCm39) Y959* probably null Het
Tmprss11e A T 5: 86,875,225 (GRCm39) C14S probably benign Het
Tnfrsf14 T C 4: 155,006,934 (GRCm39) probably null Het
Tsfm A C 10: 126,847,512 (GRCm39) V193G probably benign Het
Ube2q2l T A 6: 136,378,371 (GRCm39) Y153F probably benign Het
Ush2a A T 1: 188,175,267 (GRCm39) I1122L probably benign Het
Vmn1r74 T A 7: 11,580,984 (GRCm39) S95T probably damaging Het
Vmn2r98 G A 17: 19,290,015 (GRCm39) C517Y probably damaging Het
Vstm2b G A 7: 40,550,702 (GRCm39) S99N possibly damaging Het
Zbtb24 A G 10: 41,327,537 (GRCm39) N141S probably benign Het
Zcchc4 T G 5: 52,942,512 (GRCm39) C106G 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGAATGTGAGGCCTCATAGTCC -3'
(R):5'- AGTCTCTACCTTGGCATGTTTG -3'

Sequencing Primer
(F):5'- GTGAGGCCTCATAGTCCTTTAAAAAG -3'
(R):5'- CTACCTTGGCATGTTTGGGGTTTTG -3'
Posted On 2016-09-06