Incidental Mutation 'IGL00801:Skint2'
ID14031
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: 0.062) question?
Stock #IGL00801
Quality Score
Status
Chromosome4
Chromosomal Location112557194-112652248 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112625991 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 198 (M198L)
Ref Sequence ENSEMBL: ENSMUSP00000139831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]
Predicted Effect probably benign
Transcript: ENSMUST00000058791
AA Change: M198L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359
AA Change: M198L

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 possibly damaging
Transcript: ENSMUST00000106560
AA Change: M198L

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359
AA Change: M198L

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 possibly damaging
Transcript: ENSMUST00000186969
AA Change: M198L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359
AA Change: M198L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Gjb6 A T 14: 57,124,041 N254K possibly damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Knop1 A G 7: 118,852,644 V284A probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Nudt5 T C 2: 5,866,357 F166S probably damaging Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Qtrt2 T C 16: 43,881,189 K3E probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R probably damaging Het
Other mutations in Skint2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Skint2 APN 4 112624212 missense probably damaging 1.00
IGL01602:Skint2 APN 4 112625994 missense probably benign 0.44
IGL01605: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
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
Posted On2012-12-06