Incidental Mutation 'IGL02474:Skap1'
ID 294845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skap1
Ensembl Gene ENSMUSG00000057058
Gene Name src family associated phosphoprotein 1
Synonyms 1700091G21Rik, Skap-55
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL02474
Quality Score
Status
Chromosome 11
Chromosomal Location 96355419-96649956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96599512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 188 (Y188F)
Ref Sequence ENSEMBL: ENSMUSP00000099443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154]
AlphaFold Q3UUV5
Predicted Effect probably damaging
Transcript: ENSMUST00000071510
AA Change: Y188F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: Y188F

DomainStartEndE-ValueType
low complexity region 59 74 N/A INTRINSIC
PH 108 212 1.46e-24 SMART
low complexity region 220 235 N/A INTRINSIC
SH3 277 334 2.56e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100521
AA Change: Y188F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: Y188F

DomainStartEndE-ValueType
low complexity region 59 74 N/A INTRINSIC
PH 108 212 1.46e-24 SMART
low complexity region 220 235 N/A INTRINSIC
SH3 277 314 2.64e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103154
AA Change: Y188F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: Y188F

DomainStartEndE-ValueType
low complexity region 59 74 N/A INTRINSIC
PH 108 212 1.46e-24 SMART
low complexity region 220 235 N/A INTRINSIC
low complexity region 271 280 N/A INTRINSIC
SH3 293 350 2.56e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181758
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased T cell aggregation, adhesion and proliferation following stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,038,491 (GRCm39) E283G probably damaging Het
Ahnak A G 19: 8,982,297 (GRCm39) I1194V probably benign Het
Aqr T A 2: 113,943,127 (GRCm39) N1149Y probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Cacna1s A C 1: 136,046,118 (GRCm39) T1461P probably benign Het
Chrnb3 T C 8: 27,883,397 (GRCm39) S113P probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Cramp1 A G 17: 25,204,024 (GRCm39) V318A probably damaging Het
Csf2ra A G 19: 61,214,975 (GRCm39) V163A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ctnnd2 A G 15: 30,669,708 (GRCm39) D439G possibly damaging Het
Dnah11 T A 12: 117,991,180 (GRCm39) probably null Het
Dyrk4 C A 6: 126,857,194 (GRCm39) C495F probably damaging Het
Gabra6 A G 11: 42,198,244 (GRCm39) V402A probably benign Het
Gba2 T C 4: 43,568,538 (GRCm39) M643V possibly damaging Het
Gbp9 A T 5: 105,242,433 (GRCm39) probably benign Het
Ginm1 A G 10: 7,653,532 (GRCm39) probably benign Het
Git1 T A 11: 77,394,217 (GRCm39) D282E probably damaging Het
Gm5799 T C 14: 43,782,086 (GRCm39) I86T probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gng12 A G 6: 66,992,745 (GRCm39) K4R probably benign Het
Hnrnpul1 A T 7: 25,426,182 (GRCm39) D556E probably benign Het
Kat6b T A 14: 21,719,107 (GRCm39) L1153Q possibly damaging Het
Ly75 A T 2: 60,213,526 (GRCm39) L17Q probably null Het
Mc5r T C 18: 68,471,910 (GRCm39) F90L probably damaging Het
Or1x2 C A 11: 50,918,192 (GRCm39) A121D probably damaging Het
Or5k8 A T 16: 58,645,019 (GRCm39) S18T probably benign Het
Or6b13 T C 7: 139,782,500 (GRCm39) Y61C probably damaging Het
Or7c70 A T 10: 78,682,897 (GRCm39) M284K probably damaging Het
Or8b9 A T 9: 37,766,656 (GRCm39) I181L probably benign Het
Pi4ka A T 16: 17,143,293 (GRCm39) Y6N probably damaging Het
Polr2g C A 19: 8,775,820 (GRCm39) probably null Het
Psme3 A G 11: 101,208,480 (GRCm39) Q82R probably benign Het
Rab11a G T 9: 64,633,929 (GRCm39) T17K possibly damaging Het
Rbm12 A T 2: 155,940,017 (GRCm39) L85Q probably damaging Het
Tmprss6 A T 15: 78,326,536 (GRCm39) F34I probably damaging Het
Trip12 A C 1: 84,771,854 (GRCm39) I98S probably benign Het
Ttn T C 2: 76,708,532 (GRCm39) probably benign Het
Ube2t A T 1: 134,899,079 (GRCm39) K21* probably null Het
Vmn1r216 T C 13: 23,283,647 (GRCm39) V110A possibly damaging Het
Vmn2r109 A T 17: 20,761,150 (GRCm39) F736I probably benign Het
Vps13c A G 9: 67,845,158 (GRCm39) T2081A probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Skap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Skap1 APN 11 96,380,736 (GRCm39) missense probably damaging 1.00
IGL00565:Skap1 APN 11 96,622,016 (GRCm39) missense probably damaging 1.00
IGL00565:Skap1 APN 11 96,621,971 (GRCm39) missense probably damaging 1.00
IGL02351:Skap1 APN 11 96,599,382 (GRCm39) splice site probably null
IGL02797:Skap1 APN 11 96,603,843 (GRCm39) missense possibly damaging 0.78
IGL03025:Skap1 APN 11 96,593,508 (GRCm39) missense probably damaging 1.00
IGL03115:Skap1 APN 11 96,593,446 (GRCm39) missense probably benign 0.00
R0601:Skap1 UTSW 11 96,614,236 (GRCm39) splice site probably benign
R0741:Skap1 UTSW 11 96,383,759 (GRCm39) intron probably benign
R0946:Skap1 UTSW 11 96,432,295 (GRCm39) nonsense probably null
R2051:Skap1 UTSW 11 96,432,289 (GRCm39) missense possibly damaging 0.89
R2132:Skap1 UTSW 11 96,355,559 (GRCm39) missense possibly damaging 0.95
R4130:Skap1 UTSW 11 96,416,871 (GRCm39) missense probably damaging 1.00
R4923:Skap1 UTSW 11 96,644,870 (GRCm39) missense probably damaging 1.00
R5893:Skap1 UTSW 11 96,472,224 (GRCm39) makesense probably null
R6207:Skap1 UTSW 11 96,594,959 (GRCm39) nonsense probably null
R6577:Skap1 UTSW 11 96,416,870 (GRCm39) missense probably damaging 1.00
R7158:Skap1 UTSW 11 96,416,883 (GRCm39) missense possibly damaging 0.77
R8912:Skap1 UTSW 11 96,644,902 (GRCm39) missense probably damaging 0.98
R9377:Skap1 UTSW 11 96,644,921 (GRCm39) missense possibly damaging 0.79
R9576:Skap1 UTSW 11 96,472,030 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16