Incidental Mutation 'IGL02351:Skap1'
ID 289503
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 # IGL02351
Quality Score
Status
Chromosome 11
Chromosomal Location 96355419-96649956 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 96599382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154]
AlphaFold Q3UUV5
Predicted Effect probably null
Transcript: ENSMUST00000071510
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058

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 null
Transcript: ENSMUST00000100521
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058

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 null
Transcript: ENSMUST00000103154
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
IGL02474:Skap1 APN 11 96,599,512 (GRCm39) missense probably damaging 0.98
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