Incidental Mutation 'IGL03372:Skint3'
ID420364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint3
Ensembl Gene ENSMUSG00000070868
Gene Nameselection and upkeep of intraepithelial T cells 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03372
Quality Score
Status
Chromosome4
Chromosomal Location112232245-112300468 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 112255906 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038455] [ENSMUST00000170945]
Predicted Effect probably benign
Transcript: ENSMUST00000038455
SMART Domains Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 34 141 3.51e-8 SMART
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 291 313 N/A INTRINSIC
transmembrane domain 328 350 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170945
SMART Domains Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 34 141 3.51e-8 SMART
transmembrane domain 243 265 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
transmembrane domain 362 384 N/A INTRINSIC
transmembrane domain 404 426 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in Skint3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Skint3 APN 4 112255909 splice site probably benign
IGL01344:Skint3 APN 4 112290322 missense possibly damaging 0.53
IGL02875:Skint3 APN 4 112255882 missense possibly damaging 0.88
IGL03308:Skint3 APN 4 112254067 missense probably damaging 1.00
R0043:Skint3 UTSW 4 112277623 missense probably damaging 0.98
R0671:Skint3 UTSW 4 112255777 nonsense probably null
R0747:Skint3 UTSW 4 112253905 missense probably damaging 1.00
R1191:Skint3 UTSW 4 112235742 start codon destroyed probably null 0.95
R2058:Skint3 UTSW 4 112255783 nonsense probably null
R3819:Skint3 UTSW 4 112255888 missense possibly damaging 0.68
R3893:Skint3 UTSW 4 112253918 missense probably damaging 0.97
R4166:Skint3 UTSW 4 112255635 missense possibly damaging 0.89
R4449:Skint3 UTSW 4 112270009 missense possibly damaging 0.74
R4662:Skint3 UTSW 4 112277666 nonsense probably null
R4790:Skint3 UTSW 4 112255898 missense possibly damaging 0.49
R5374:Skint3 UTSW 4 112298189 missense possibly damaging 0.81
R5570:Skint3 UTSW 4 112235798 missense probably benign 0.08
R6024:Skint3 UTSW 4 112290346 missense possibly damaging 0.66
R6306:Skint3 UTSW 4 112255875 missense probably damaging 1.00
R6552:Skint3 UTSW 4 112290285 missense possibly damaging 0.95
R6619:Skint3 UTSW 4 112253864 missense probably damaging 1.00
R6972:Skint3 UTSW 4 112258892 missense probably damaging 0.98
Posted On2016-08-02