Incidental Mutation 'IGL02399:Skint9'
ID291832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint9
Ensembl Gene ENSMUSG00000049972
Gene Nameselection and upkeep of intraepithelial T cells 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL02399
Quality Score
Status
Chromosome4
Chromosomal Location112385969-112433985 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112389250 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 222 (Y222N)
Ref Sequence ENSEMBL: ENSMUSP00000052670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058605]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058605
AA Change: Y222N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: Y222N

DomainStartEndE-ValueType
PDB:4F8T|A 26 125 1e-9 PDB
Blast:IG_like 32 119 8e-12 BLAST
SCOP:d1eula_ 154 245 5e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Adarb1 G A 10: 77,295,754 P624S probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Mcf2 T C X: 60,135,452 D255G probably damaging Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nlrp2 C T 7: 5,328,810 A196T probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Spata31d1d A G 13: 59,730,140 probably benign Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging Het
Other mutations in Skint9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Skint9 APN 4 112414138 splice site probably benign
IGL03111:Skint9 APN 4 112391724 missense probably benign 0.01
land_lubber UTSW 4 112390977 nonsense probably null
R0390:Skint9 UTSW 4 112389179 missense probably benign 0.21
R0400:Skint9 UTSW 4 112414001 missense probably damaging 1.00
R1606:Skint9 UTSW 4 112389201 missense probably benign 0.02
R1757:Skint9 UTSW 4 112413962 missense probably benign 0.03
R2431:Skint9 UTSW 4 112389267 missense probably damaging 1.00
R3195:Skint9 UTSW 4 112390951 missense probably benign 0.37
R3196:Skint9 UTSW 4 112390951 missense probably benign 0.37
R4329:Skint9 UTSW 4 112391865 missense probably damaging 0.98
R4855:Skint9 UTSW 4 112391011 missense probably benign
R4986:Skint9 UTSW 4 112391713 missense probably benign 0.00
R5093:Skint9 UTSW 4 112389250 missense probably benign 0.01
R5844:Skint9 UTSW 4 112413883 missense probably benign 0.01
R5897:Skint9 UTSW 4 112413916 missense possibly damaging 0.95
R7123:Skint9 UTSW 4 112390977 nonsense probably null
R7406:Skint9 UTSW 4 112389231 missense probably benign 0.00
R7591:Skint9 UTSW 4 112390950 missense probably damaging 0.99
Posted On2015-04-16