Incidental Mutation 'R0946:Skap1'
ID 82119
Institutional Source Beutler Lab
Gene Symbol Skap1
Ensembl Gene ENSMUSG00000057058
Gene Name src family associated phosphoprotein 1
Synonyms 1700091G21Rik, Skap-55
MMRRC Submission 039085-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R0946 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96355419-96649956 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to G at 96432295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 88 (S88*)
Ref Sequence ENSEMBL: ENSMUSP00000103290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154] [ENSMUST00000107662] [ENSMUST00000107663]
AlphaFold Q3UUV5
Predicted Effect probably null
Transcript: ENSMUST00000071510
AA Change: S88*
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: S88*

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
AA Change: S88*
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: S88*

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
AA Change: S88*
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: S88*

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 null
Transcript: ENSMUST00000107662
AA Change: S88*
SMART Domains Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
AA Change: S88*

DomainStartEndE-ValueType
Blast:PH 40 114 5e-20 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000107663
AA Change: S88*
SMART Domains Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058
AA Change: S88*

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A G 14: 34,234,099 (GRCm39) M64T unknown Het
Adamts15 C T 9: 30,813,493 (GRCm39) G891R probably damaging Het
Adck5 G A 15: 76,477,486 (GRCm39) V107I possibly damaging Het
Aoc3 G A 11: 101,223,131 (GRCm39) V456M possibly damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Camsap3 A G 8: 3,654,442 (GRCm39) H693R probably benign Het
Ccdc88a A G 11: 29,406,509 (GRCm39) T414A probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Coasy G T 11: 100,976,696 (GRCm39) V489F probably damaging Het
Ercc6 A T 14: 32,274,578 (GRCm39) M574L probably benign Het
Esrrb T C 12: 86,552,598 (GRCm39) L180P probably damaging Het
Fam83b A T 9: 76,398,679 (GRCm39) V808D probably damaging Het
Fat3 C T 9: 15,909,100 (GRCm39) V2301I possibly damaging Het
Ftdc1 C A 16: 58,435,075 (GRCm39) R83S probably damaging Het
Hyal4 T A 6: 24,755,912 (GRCm39) Y43* probably null Het
Hydin C A 8: 111,257,685 (GRCm39) L2372M probably benign Het
Lrrc4c T C 2: 97,459,809 (GRCm39) V145A probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Muc21 A C 17: 35,929,105 (GRCm39) S1581A probably benign Het
Myh4 A G 11: 67,142,577 (GRCm39) I913V possibly damaging Het
Nat10 C T 2: 103,561,719 (GRCm39) G654D probably damaging Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Nup50l A T 6: 96,142,677 (GRCm39) N122K possibly damaging Het
Oas3 T C 5: 120,907,128 (GRCm39) Y503C unknown Het
Or11g7 C A 14: 50,691,130 (GRCm39) T207K probably benign Het
Pappa G T 4: 65,233,029 (GRCm39) probably null Het
Pfas A G 11: 68,884,121 (GRCm39) probably null Het
Pfas G T 11: 68,881,573 (GRCm39) probably null Het
Pign A T 1: 105,519,422 (GRCm39) M500K probably benign Het
Pkhd1 T C 1: 20,269,605 (GRCm39) K3313R probably benign Het
Ptk2b A G 14: 66,396,047 (GRCm39) V807A probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Rfpl4b A T 10: 38,696,833 (GRCm39) I256N probably benign Het
Slc4a2 T C 5: 24,640,884 (GRCm39) S742P probably damaging Het
Supv3l1 T C 10: 62,265,599 (GRCm39) D647G probably damaging Het
Tmem184c A C 8: 78,331,386 (GRCm39) V121G probably damaging Het
Tonsl T C 15: 76,507,421 (GRCm39) I118V probably benign Het
Top1 T A 2: 160,554,588 (GRCm39) Y446* probably null Het
Trim37 A G 11: 87,037,781 (GRCm39) R172G probably damaging Het
Vgll4 C A 6: 114,867,768 (GRCm39) probably null Het
Vgll4 T A 6: 114,867,769 (GRCm39) probably null Het
Vmn1r5 T G 6: 56,963,150 (GRCm39) I275S possibly damaging Het
Vwde A T 6: 13,187,874 (GRCm39) H584Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp282 T A 6: 47,856,943 (GRCm39) W59R probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zswim2 T A 2: 83,754,103 (GRCm39) T186S 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
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
Predicted Primers PCR Primer
(F):5'- TTCGCACACAGGTAAGGTAAGTTGG -3'
(R):5'- CCACAGCAAAGCAAGTAGGTGCTC -3'

Sequencing Primer
(F):5'- ATCAAGTAAGGGATGCTGCTGTC -3'
(R):5'- AAGTAGGTGCTCTTTGCCCAC -3'
Posted On 2013-11-08