Incidental Mutation 'IGL01945:Strap'
ID 279216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strap
Ensembl Gene ENSMUSG00000030224
Gene Name serine/threonine kinase receptor associated protein
Synonyms C78091, Unrip
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01945
Quality Score
Status
Chromosome 6
Chromosomal Location 137712080-137728928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137718333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 146 (I146V)
Ref Sequence ENSEMBL: ENSMUSP00000068267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064910]
AlphaFold Q9Z1Z2
Predicted Effect probably benign
Transcript: ENSMUST00000064910
AA Change: I146V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000068267
Gene: ENSMUSG00000030224
AA Change: I146V

DomainStartEndE-ValueType
WD40 3 45 3.08e0 SMART
WD40 48 87 1.88e-4 SMART
WD40 90 128 2.38e-6 SMART
WD40 132 170 1.01e-4 SMART
WD40 173 210 1.27e2 SMART
WD40 213 251 3.99e-1 SMART
WD40 254 293 5.9e-11 SMART
low complexity region 324 336 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154698
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele die between E10.5 and E12.5 displaying defects in angiogenesis, cardiogenesis, somitogenesis, neural tube closure and embryonic turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp5mc3 G A 2: 73,741,313 (GRCm39) R9C probably benign Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Cavin1 A T 11: 100,861,246 (GRCm39) F16Y probably benign Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Padi6 T C 4: 140,469,235 (GRCm39) D35G probably benign Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slc17a5 G T 9: 78,495,214 (GRCm39) D12E probably benign Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Strap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Strap APN 6 137,722,521 (GRCm39) missense probably damaging 0.97
IGL01413:Strap APN 6 137,722,502 (GRCm39) splice site probably benign
IGL01937:Strap APN 6 137,718,333 (GRCm39) missense probably benign 0.00
R2175:Strap UTSW 6 137,727,590 (GRCm39) missense probably benign
R3911:Strap UTSW 6 137,712,380 (GRCm39) missense probably damaging 1.00
R4484:Strap UTSW 6 137,726,334 (GRCm39) intron probably benign
R4669:Strap UTSW 6 137,712,384 (GRCm39) nonsense probably null
R4875:Strap UTSW 6 137,726,316 (GRCm39) intron probably benign
R7814:Strap UTSW 6 137,718,976 (GRCm39) missense possibly damaging 0.73
R7887:Strap UTSW 6 137,716,807 (GRCm39) missense possibly damaging 0.93
R8338:Strap UTSW 6 137,718,976 (GRCm39) missense possibly damaging 0.73
R9018:Strap UTSW 6 137,716,811 (GRCm39) missense probably benign
R9172:Strap UTSW 6 137,718,365 (GRCm39) missense probably benign
Posted On 2015-04-16