Incidental Mutation 'IGL03115:Skap1'
ID 419373
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 # IGL03115
Quality Score
Status
Chromosome 11
Chromosomal Location 96355419-96649956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96593446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 98 (I98V)
Ref Sequence ENSEMBL: ENSMUSP00000099443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154]
AlphaFold Q3UUV5
Predicted Effect probably benign
Transcript: ENSMUST00000071510
AA Change: I98V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: I98V

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 benign
Transcript: ENSMUST00000100521
AA Change: I98V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: I98V

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 benign
Transcript: ENSMUST00000103154
AA Change: I98V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: I98V

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: ENSMUST00000127639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136836
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,808,802 (GRCm39) H302L probably damaging Het
Adamts12 T A 15: 11,263,422 (GRCm39) C595S probably damaging Het
Arid2 G A 15: 96,268,154 (GRCm39) V756I probably damaging Het
Asah1 A T 8: 41,813,336 (GRCm39) W26R possibly damaging Het
Brinp1 C T 4: 68,822,973 (GRCm39) probably null Het
Cers2 A G 3: 95,228,663 (GRCm39) D162G probably damaging Het
Clasp1 G T 1: 118,429,053 (GRCm39) E106* probably null Het
Col12a1 T C 9: 79,588,719 (GRCm39) E1132G probably damaging Het
Dhdds G T 4: 133,710,182 (GRCm39) H196N probably benign Het
Eps8 T C 6: 137,504,379 (GRCm39) D118G probably damaging Het
Fmo9 A G 1: 166,505,220 (GRCm39) S7P probably damaging Het
Gamt A G 10: 80,094,272 (GRCm39) L197P probably damaging Het
Grb7 A G 11: 98,341,945 (GRCm39) I82V probably damaging Het
Hectd2 T C 19: 36,577,121 (GRCm39) probably null Het
Ilk T C 7: 105,389,542 (GRCm39) V83A probably damaging Het
Kif21a T A 15: 90,869,598 (GRCm39) I418F probably damaging Het
Kndc1 A G 7: 139,501,425 (GRCm39) I905V probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Morc3 T C 16: 93,667,971 (GRCm39) I710T probably damaging Het
Nefm T C 14: 68,357,728 (GRCm39) probably benign Het
Or10d5 T C 9: 39,862,040 (GRCm39) E9G probably damaging Het
Or2f2 A G 6: 42,767,599 (GRCm39) T209A probably benign Het
Or8g23 C A 9: 38,971,259 (GRCm39) R234S probably damaging Het
Pard6g T G 18: 80,123,068 (GRCm39) L34W probably damaging Het
Patj C T 4: 98,332,040 (GRCm39) S562L probably damaging Het
Pcsk4 A G 10: 80,164,883 (GRCm39) I61T probably damaging Het
Pcsk7 T A 9: 45,825,670 (GRCm39) H300Q probably damaging Het
Pip5kl1 A G 2: 32,470,033 (GRCm39) D288G probably damaging Het
Plxnb2 T A 15: 89,046,641 (GRCm39) probably benign Het
Poldip2 T C 11: 78,411,970 (GRCm39) probably benign Het
Ralgapa2 T C 2: 146,266,734 (GRCm39) Y614C probably damaging Het
Rarres1 C A 3: 67,403,145 (GRCm39) probably null Het
Samd3 C T 10: 26,147,606 (GRCm39) T427M probably damaging Het
Skint11 T C 4: 114,101,820 (GRCm39) S87P probably damaging Het
Slc22a22 T G 15: 57,126,670 (GRCm39) E133A probably damaging Het
Slc23a2 T C 2: 131,933,185 (GRCm39) Y91C probably damaging Het
Slc6a20b T A 9: 123,426,403 (GRCm39) E494V possibly damaging Het
Slco1a4 A T 6: 141,765,329 (GRCm39) D304E probably benign Het
Slco1a4 A C 6: 141,763,585 (GRCm39) M377R probably damaging Het
Srpk2 T C 5: 23,729,616 (GRCm39) probably null Het
Supt3 T G 17: 45,352,114 (GRCm39) C271W probably damaging Het
Taar7d C A 10: 23,903,539 (GRCm39) F140L probably benign Het
Tmbim7 T C 5: 3,729,158 (GRCm39) *225Q probably null Het
Tpst1 T C 5: 130,130,752 (GRCm39) I74T probably damaging Het
Utp3 T C 5: 88,703,179 (GRCm39) V236A possibly damaging Het
Vmn2r55 A T 7: 12,404,558 (GRCm39) F282I probably damaging Het
Vwa5b1 A T 4: 138,327,460 (GRCm39) I372N possibly damaging Het
Wtip C T 7: 33,824,958 (GRCm39) A209T probably damaging Het
Zbbx T C 3: 74,985,867 (GRCm39) D395G probably benign Het
Zfp273 A T 13: 67,973,769 (GRCm39) H299L probably damaging Het
Zfp459 G A 13: 67,556,796 (GRCm39) R96* 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
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
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 2016-08-02