Incidental Mutation 'IGL01605:Skint2'
ID278728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint2
Ensembl Gene ENSMUSG00000034359
Gene Nameselection and upkeep of intraepithelial T cells 2
SynonymsB7S3, OTTMUSG00000008540
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01605
Quality Score
Status
Chromosome4
Chromosomal Location112557194-112652248 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112625994 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 199 (T199A)
Ref Sequence ENSEMBL: ENSMUSP00000139831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]
Predicted Effect probably benign
Transcript: ENSMUST00000058791
AA Change: T199A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: T199A

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 140 225 2.7e-10 PFAM
Pfam:Ig_2 153 231 3.6e-3 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106559
SMART Domains Protein: ENSMUSP00000102169
Gene: ENSMUSG00000034359

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 146 225 5.2e-8 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106560
AA Change: T199A

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: T199A

DomainStartEndE-ValueType
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 1.3e-10 PFAM
Pfam:Ig_2 153 231 2e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186969
AA Change: T199A

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: T199A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 41 122 2.52e-9 SMART
Pfam:C2-set_2 145 225 2e-10 PFAM
Pfam:Ig_2 154 231 1.7e-3 PFAM
transmembrane domain 241 263 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
transmembrane domain 322 344 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brip1 T A 11: 86,062,004 T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 Y417H probably damaging Het
Chd7 T A 4: 8,833,834 I1196N probably damaging Het
Cyp3a57 T C 5: 145,387,044 F447S probably damaging Het
Dock8 C T 19: 25,089,888 probably benign Het
Fam163b A G 2: 27,112,676 F103S probably damaging Het
G0s2 A G 1: 193,272,656 L40P probably damaging Het
Gm2046 A T 12: 87,973,760 noncoding transcript Het
Gucy1b1 C T 3: 82,035,353 R494Q probably benign Het
Hsd17b1 T C 11: 101,078,929 V89A probably damaging Het
Iqcg T C 16: 33,016,978 probably benign Het
Lmo7 T C 14: 101,910,756 probably benign Het
Mmp17 A G 5: 129,601,944 D331G probably benign Het
Mnx1 T C 5: 29,477,593 D228G unknown Het
Msh2 T C 17: 87,696,489 probably benign Het
Pabpc1 A G 15: 36,599,306 Y382H probably benign Het
Prl7b1 A G 13: 27,602,044 S214P possibly damaging Het
Ptk2 C T 15: 73,264,339 probably benign Het
Rbpj-ps3 T C 6: 46,530,091 probably benign Het
Sgsm1 A T 5: 113,285,665 M162K possibly damaging Het
Stim1 A G 7: 102,386,115 D100G possibly damaging Het
Taar5 C T 10: 23,971,064 T120I probably benign Het
Trhde A G 10: 114,787,943 V352A probably benign Het
Ubap2 T A 4: 41,227,237 D160V probably damaging Het
Vmn2r18 A G 5: 151,586,641 V89A possibly damaging Het
Wbp1l A G 19: 46,654,400 D264G possibly damaging Het
Other mutations in Skint2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Skint2 APN 4 112624212 missense probably damaging 1.00
IGL00801:Skint2 APN 4 112625991 missense possibly damaging 0.88
IGL01602:Skint2 APN 4 112625994 missense probably benign 0.44
IGL02015:Skint2 APN 4 112624128 nonsense probably null
IGL02694:Skint2 APN 4 112616595 splice site probably benign
IGL03247:Skint2 APN 4 112626026 missense probably benign 0.06
PIT4677001:Skint2 UTSW 4 112625938 missense probably benign 0.10
R0054:Skint2 UTSW 4 112645463 missense probably benign 0.15
R0054:Skint2 UTSW 4 112645463 missense probably benign 0.15
R0190:Skint2 UTSW 4 112616532 missense possibly damaging 0.85
R0479:Skint2 UTSW 4 112624041 missense possibly damaging 0.47
R0625:Skint2 UTSW 4 112624086 missense probably damaging 1.00
R1143:Skint2 UTSW 4 112625936 missense probably benign 0.00
R1564:Skint2 UTSW 4 112625998 missense probably damaging 1.00
R1861:Skint2 UTSW 4 112647118 intron probably benign
R1864:Skint2 UTSW 4 112625909 missense probably benign 0.10
R3079:Skint2 UTSW 4 112639673 missense probably benign 0.01
R3891:Skint2 UTSW 4 112624186 missense probably damaging 1.00
R4422:Skint2 UTSW 4 112584588 intron probably benign
R4799:Skint2 UTSW 4 112652108 missense probably benign 0.07
R5458:Skint2 UTSW 4 112624180 missense possibly damaging 0.83
R5482:Skint2 UTSW 4 112625879 missense probably damaging 1.00
R5603:Skint2 UTSW 4 112649764 missense possibly damaging 0.91
R7068:Skint2 UTSW 4 112624351 missense probably damaging 1.00
R7233:Skint2 UTSW 4 112625925 missense probably damaging 0.99
R7335:Skint2 UTSW 4 112624218 missense probably damaging 1.00
R7516:Skint2 UTSW 4 112625971 missense probably damaging 1.00
R7790:Skint2 UTSW 4 112616554 missense possibly damaging 0.71
R7878:Skint2 UTSW 4 112649745 missense possibly damaging 0.85
R7941:Skint2 UTSW 4 112625990 missense probably damaging 1.00
R7965:Skint2 UTSW 4 112645451 missense probably benign 0.17
R7976:Skint2 UTSW 4 112624132 missense probably damaging 1.00
R8100:Skint2 UTSW 4 112626000 missense probably damaging 0.99
Posted On2015-04-16