Incidental Mutation 'IGL00328:Tnfaip8'
ID3326
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip8
Ensembl Gene ENSMUSG00000062210
Gene Nametumor necrosis factor, alpha-induced protein 8
SynonymsE130304C20Rik, Ssc-2, Nded, Gg2-1, Gm10539
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL00328
Quality Score
Status
Chromosome18
Chromosomal Location49979427-50107173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50090326 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 67 (E67G)
Ref Sequence ENSEMBL: ENSMUSP00000115396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126666] [ENSMUST00000128377] [ENSMUST00000134348] [ENSMUST00000145726] [ENSMUST00000148159] [ENSMUST00000148989] [ENSMUST00000153873] [ENSMUST00000179937]
Predicted Effect probably damaging
Transcript: ENSMUST00000126666
AA Change: E67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
AA Change: E67G

DomainStartEndE-ValueType
Pfam:DUF758 27 212 6.5e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128377
AA Change: E47G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
AA Change: E47G

DomainStartEndE-ValueType
Pfam:DUF758 7 166 1.2e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134348
AA Change: E67G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210
AA Change: E67G

DomainStartEndE-ValueType
Pfam:DUF758 27 77 3.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145726
SMART Domains Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 1 100 4.4e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148159
AA Change: E67G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119041
Gene: ENSMUSG00000062210
AA Change: E67G

DomainStartEndE-ValueType
Pfam:DUF758 30 210 1.2e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148989
AA Change: E43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
AA Change: E43G

DomainStartEndE-ValueType
Pfam:DUF758 3 188 4.1e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153545
Predicted Effect probably damaging
Transcript: ENSMUST00000153873
AA Change: E67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210
AA Change: E67G

DomainStartEndE-ValueType
Pfam:DUF758 27 114 9e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179937
AA Change: E43G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210
AA Change: E43G

DomainStartEndE-ValueType
Pfam:DUF758 3 134 1.1e-54 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,339,374 V378I possibly damaging Het
Acad12 C T 5: 121,604,253 probably benign Het
Bap1 T G 14: 31,253,569 S123R probably damaging Het
Cers2 A T 3: 95,320,686 K73I probably benign Het
Dab1 T C 4: 104,688,438 V240A possibly damaging Het
Fry C T 5: 150,340,404 R171* probably null Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Ltn1 A G 16: 87,418,490 I419T probably benign Het
Map4k4 A G 1: 40,004,816 R540G probably damaging Het
Mki67 A C 7: 135,696,695 S2203R probably benign Het
Ptrh1 G T 2: 32,776,341 probably null Het
Vmn1r2 T A 4: 3,172,807 L242Q probably damaging Het
Vmn2r52 A G 7: 10,171,417 L165P probably benign Het
Other mutations in Tnfaip8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03391:Tnfaip8 APN 18 50090485 missense probably damaging 0.96
FR4304:Tnfaip8 UTSW 18 50046839 frame shift probably null
FR4449:Tnfaip8 UTSW 18 50046839 frame shift probably null
R0605:Tnfaip8 UTSW 18 50046845 small deletion probably benign
R1696:Tnfaip8 UTSW 18 50090223 nonsense probably null
R1804:Tnfaip8 UTSW 18 50090661 missense probably damaging 1.00
R2247:Tnfaip8 UTSW 18 50046845 frame shift probably null
R3963:Tnfaip8 UTSW 18 50090586 missense possibly damaging 0.95
R4258:Tnfaip8 UTSW 18 50090376 missense possibly damaging 0.55
R4738:Tnfaip8 UTSW 18 50090502 missense probably damaging 1.00
R6229:Tnfaip8 UTSW 18 50051675 unclassified probably benign
R7786:Tnfaip8 UTSW 18 50047111 missense unknown
R7786:Tnfaip8 UTSW 18 50047112 missense unknown
RF024:Tnfaip8 UTSW 18 50046831 critical splice donor site probably benign
RF052:Tnfaip8 UTSW 18 50046833 frame shift probably null
RF062:Tnfaip8 UTSW 18 50046831 critical splice donor site probably benign
Posted On2012-04-20