Incidental Mutation 'R4130:Skap1'
ID 368391
Institutional Source Beutler Lab
Gene Symbol Skap1
Ensembl Gene ENSMUSG00000057058
Gene Name src family associated phosphoprotein 1
Synonyms 1700091G21Rik, Skap-55
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96355419-96649956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96416871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 52 (Y52C)
Ref Sequence ENSEMBL: ENSMUSP00000103290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154] [ENSMUST00000107662] [ENSMUST00000107663]
AlphaFold Q3UUV5
Predicted Effect probably damaging
Transcript: ENSMUST00000071510
AA Change: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: Y52C

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: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: Y52C

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: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: Y52C

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 probably damaging
Transcript: ENSMUST00000107662
AA Change: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
AA Change: Y52C

DomainStartEndE-ValueType
Blast:PH 40 114 5e-20 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107663
AA Change: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058
AA Change: Y52C

DomainStartEndE-ValueType
PDB:2OTX|B 7 57 1e-6 PDB
Blast:PH 40 94 7e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136836
Meta Mutation Damage Score 0.3169 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTGCTGAGTCATTGCAGCAC -3'
(R):5'- GCGCCTCTCATTGCTGAAATAG -3'

Sequencing Primer
(F):5'- GCTGAGTCATTGCAGCACATTTATG -3'
(R):5'- CTGAAATAGCAGGGCAGGG -3'
Posted On 2016-02-03