Incidental Mutation 'IGL02797:Skap1'
ID360008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skap1
Ensembl Gene ENSMUSG00000057058
Gene Namesrc family associated phosphoprotein 1
SynonymsSkap-55, 1700091G21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL02797
Quality Score
Status
Chromosome11
Chromosomal Location96464593-96759130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96713017 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 211 (D211G)
Ref Sequence ENSEMBL: ENSMUSP00000099443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071510] [ENSMUST00000100521] [ENSMUST00000103154]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071510
AA Change: D211G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: D211G

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 possibly damaging
Transcript: ENSMUST00000100521
AA Change: D211G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: D211G

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 possibly damaging
Transcript: ENSMUST00000103154
AA Change: D211G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: D211G

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: 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Il12b A G 11: 44,410,353 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V probably benign Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sntg2 T G 12: 30,226,892 Y387S possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Spop T A 11: 95,482,083 I217N probably damaging Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Tmeff2 C T 1: 50,928,047 R34C probably damaging Het
Treml2 C T 17: 48,302,711 A57V possibly damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Skap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Skap1 APN 11 96489910 missense probably damaging 1.00
IGL00565:Skap1 APN 11 96731145 missense probably damaging 1.00
IGL00565:Skap1 APN 11 96731190 missense probably damaging 1.00
IGL02351:Skap1 APN 11 96708556 splice site probably null
IGL02474:Skap1 APN 11 96708686 missense probably damaging 0.98
IGL03025:Skap1 APN 11 96702682 missense probably damaging 1.00
IGL03115:Skap1 APN 11 96702620 missense probably benign 0.00
R0601:Skap1 UTSW 11 96723410 splice site probably benign
R0741:Skap1 UTSW 11 96492933 intron probably benign
R0946:Skap1 UTSW 11 96541469 nonsense probably null
R2051:Skap1 UTSW 11 96541463 missense possibly damaging 0.89
R2132:Skap1 UTSW 11 96464733 missense possibly damaging 0.95
R4130:Skap1 UTSW 11 96526045 missense probably damaging 1.00
R4923:Skap1 UTSW 11 96754044 missense probably damaging 1.00
R5893:Skap1 UTSW 11 96581398 makesense probably null
R6207:Skap1 UTSW 11 96704133 nonsense probably null
R6577:Skap1 UTSW 11 96526044 missense probably damaging 1.00
Posted On2015-12-18