Incidental Mutation 'IGL02694:Skint2'
ID303868
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: 0.056) question?
Stock #IGL02694
Quality Score
Status
Chromosome4
Chromosomal Location112557194-112652248 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 112616595 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058791] [ENSMUST00000106560] [ENSMUST00000186969]
Predicted Effect probably benign
Transcript: ENSMUST00000058791
SMART Domains Protein: ENSMUSP00000061011
Gene: ENSMUSG00000034359

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
SMART Domains Protein: ENSMUSP00000102170
Gene: ENSMUSG00000034359

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
SMART Domains Protein: ENSMUSP00000139831
Gene: ENSMUSG00000034359

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
Acer3 A G 7: 98,216,877 I213T probably benign Het
Alox8 T A 11: 69,186,629 T432S probably damaging Het
Col4a3 T C 1: 82,710,794 probably benign Het
Cyp2c54 A G 19: 40,047,543 Y308H possibly damaging Het
Dscam A G 16: 96,593,276 V1942A probably benign Het
F11 T C 8: 45,252,159 Y115C probably damaging Het
Fam13b A G 18: 34,451,206 probably null Het
Gm4778 A G 3: 94,266,152 M152V probably benign Het
Gykl1 A G 18: 52,694,185 H155R probably benign Het
Lmo7 T A 14: 101,887,170 V355D probably damaging Het
Lrtm2 T A 6: 119,320,885 D65V possibly damaging Het
Ly6g6f C T 17: 35,081,168 V235M possibly damaging Het
Mlxipl G A 5: 135,124,018 probably null Het
Olfr294 C T 7: 86,616,310 V112I probably benign Het
Olfr53 A G 7: 140,652,180 N67S probably damaging Het
Olfr736 A G 14: 50,392,800 I15V probably benign Het
Ppp2r1a A G 17: 20,951,440 probably benign Het
Psmb2 A G 4: 126,709,558 N193S probably benign Het
Rassf2 A T 2: 132,009,721 Y34N possibly damaging Het
Ryr2 A G 13: 11,605,189 F3841L probably damaging Het
Spdl1 T C 11: 34,813,621 I462V probably benign Het
Tlk2 A G 11: 105,221,235 E138G probably benign Het
Vmn1r89 A G 7: 13,220,129 E196G probably benign Het
Zfp142 A G 1: 74,570,148 L1496P probably damaging Het
Zfp689 T C 7: 127,448,401 D94G possibly damaging Het
Zfp944 A G 17: 22,339,918 V116A probably benign 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
IGL01605:Skint2 APN 4 112625994 missense probably benign 0.44
IGL02015:Skint2 APN 4 112624128 nonsense probably null
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