Incidental Mutation 'IGL00775:Skint11'
ID 14029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skint11
Ensembl Gene ENSMUSG00000057977
Gene Name selection and upkeep of intraepithelial T cells 11
Synonyms A630098G03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00775
Quality Score
Status
Chromosome 4
Chromosomal Location 114020581-114102225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114051889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 79 (D79V)
Ref Sequence ENSEMBL: ENSMUSP00000127138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079915] [ENSMUST00000145797] [ENSMUST00000151810] [ENSMUST00000164297]
AlphaFold A7XV14
Predicted Effect probably benign
Transcript: ENSMUST00000079915
SMART Domains Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145797
AA Change: D79V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118895
Gene: ENSMUSG00000057977
AA Change: D79V

DomainStartEndE-ValueType
Pfam:C2-set_2 29 113 6.4e-7 PFAM
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151810
AA Change: D53V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119157
Gene: ENSMUSG00000057977
AA Change: D53V

DomainStartEndE-ValueType
Pfam:C2-set_2 3 87 6e-7 PFAM
transmembrane domain 112 134 N/A INTRINSIC
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164297
AA Change: D79V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: D79V

DomainStartEndE-ValueType
PDB:4F8T|A 19 125 6e-9 PDB
Blast:IG_like 40 119 1e-10 BLAST
transmembrane domain 138 160 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,257,524 (GRCm39) N403S possibly damaging Het
Adam32 T C 8: 25,411,370 (GRCm39) Y92C probably damaging Het
Ankfy1 G A 11: 72,619,598 (GRCm39) G157D probably benign Het
Cfap299 T C 5: 98,932,369 (GRCm39) Y190H probably benign Het
Champ1 T C 8: 13,929,509 (GRCm39) S556P probably damaging Het
Dnah8 T G 17: 30,986,880 (GRCm39) Y3176* probably null Het
Gbp8 T C 5: 105,165,711 (GRCm39) N314S probably damaging Het
Kif1c A G 11: 70,614,960 (GRCm39) probably null Het
Pcdhb22 T C 18: 37,652,795 (GRCm39) V421A probably benign Het
Plag1 A G 4: 3,904,055 (GRCm39) S379P probably damaging Het
Tdp2 A G 13: 25,024,521 (GRCm39) T273A probably damaging Het
Utrn A G 10: 12,620,974 (GRCm39) probably null Het
Zscan21 C A 5: 138,131,310 (GRCm39) S99* probably null Het
Other mutations in Skint11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Skint11 APN 4 114,051,906 (GRCm39) missense probably benign 0.03
IGL02186:Skint11 APN 4 114,101,833 (GRCm39) missense possibly damaging 0.82
IGL02499:Skint11 APN 4 114,051,801 (GRCm39) missense probably benign 0.01
IGL02622:Skint11 APN 4 114,051,925 (GRCm39) missense probably damaging 1.00
IGL03115:Skint11 APN 4 114,101,820 (GRCm39) missense probably damaging 0.99
R0513:Skint11 UTSW 4 114,051,762 (GRCm39) missense probably benign 0.00
R0928:Skint11 UTSW 4 114,101,798 (GRCm39) missense possibly damaging 0.95
R1486:Skint11 UTSW 4 114,052,015 (GRCm39) critical splice donor site probably null
R1508:Skint11 UTSW 4 114,088,963 (GRCm39) critical splice donor site probably null
R1667:Skint11 UTSW 4 114,051,978 (GRCm39) missense probably damaging 0.99
R1807:Skint11 UTSW 4 114,051,893 (GRCm39) missense probably benign 0.08
R2504:Skint11 UTSW 4 114,086,009 (GRCm39) missense possibly damaging 0.55
R4165:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4166:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4231:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4233:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4234:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4236:Skint11 UTSW 4 114,101,856 (GRCm39) missense probably benign 0.00
R4756:Skint11 UTSW 4 114,051,874 (GRCm39) missense probably benign 0.30
R4947:Skint11 UTSW 4 114,048,707 (GRCm39) missense possibly damaging 0.89
R5237:Skint11 UTSW 4 114,102,042 (GRCm39) missense possibly damaging 0.66
R5538:Skint11 UTSW 4 114,088,959 (GRCm39) missense probably damaging 0.99
R5555:Skint11 UTSW 4 114,051,798 (GRCm39) missense probably benign 0.03
R6004:Skint11 UTSW 4 114,088,925 (GRCm39) missense probably benign 0.37
R6209:Skint11 UTSW 4 114,101,907 (GRCm39) missense possibly damaging 0.73
R7121:Skint11 UTSW 4 114,084,993 (GRCm39) missense probably benign 0.05
R7208:Skint11 UTSW 4 114,088,944 (GRCm39) missense probably damaging 1.00
R7348:Skint11 UTSW 4 114,101,919 (GRCm39) missense probably benign 0.15
R7763:Skint11 UTSW 4 114,084,905 (GRCm39) missense probably benign 0.00
R7842:Skint11 UTSW 4 114,101,968 (GRCm39) missense possibly damaging 0.83
R7846:Skint11 UTSW 4 114,102,076 (GRCm39) missense possibly damaging 0.92
R8054:Skint11 UTSW 4 114,101,806 (GRCm39) missense possibly damaging 0.55
R8710:Skint11 UTSW 4 114,051,951 (GRCm39) missense probably benign 0.10
R8742:Skint11 UTSW 4 114,051,922 (GRCm39) missense probably damaging 0.98
Z1176:Skint11 UTSW 4 114,088,878 (GRCm39) missense probably damaging 0.96
Z1176:Skint11 UTSW 4 114,051,969 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06