Incidental Mutation 'IGL03391:Tnfaip8'
ID421071
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: 0.270) question?
Stock #IGL03391
Quality Score
Status
Chromosome18
Chromosomal Location49979427-50107173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50090485 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 120 (V120A)
Ref Sequence ENSEMBL: ENSMUSP00000121372 (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: V120A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
AA Change: V120A

DomainStartEndE-ValueType
Pfam:DUF758 27 212 6.5e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128377
AA Change: V100A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
AA Change: V100A

DomainStartEndE-ValueType
Pfam:DUF758 7 166 1.2e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134348
SMART Domains Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 27 77 3.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145726
AA Change: V8A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210
AA Change: V8A

DomainStartEndE-ValueType
Pfam:DUF758 1 100 4.4e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148159
AA Change: V120A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119041
Gene: ENSMUSG00000062210
AA Change: V120A

DomainStartEndE-ValueType
Pfam:DUF758 30 210 1.2e-80 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148989
AA Change: V96A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
AA Change: V96A

DomainStartEndE-ValueType
Pfam:DUF758 3 188 4.1e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153545
Predicted Effect probably benign
Transcript: ENSMUST00000153873
SMART Domains Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 27 114 9e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179937
AA Change: V96A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210
AA Change: V96A

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,884 D586G probably damaging Het
Acadvl A C 11: 70,010,716 M557R probably damaging Het
Ano2 T A 6: 125,807,839 N327K probably damaging Het
Cdh11 A T 8: 102,674,023 D104E possibly damaging Het
Chrnb2 A G 3: 89,760,877 F377S probably damaging Het
Cngb1 T C 8: 95,303,705 probably benign Het
Dnaaf1 C T 8: 119,582,616 R148C probably damaging Het
Esrrg A T 1: 188,150,223 I226F possibly damaging Het
Evl C A 12: 108,676,099 probably null Het
Gpam T C 19: 55,081,696 E376G probably damaging Het
Gzf1 C A 2: 148,683,683 R25S probably damaging Het
Ighv5-2 A T 12: 113,578,518 Y113* probably null Het
Izumo4 A G 10: 80,705,113 T216A probably damaging Het
Lrp1b T G 2: 41,295,641 Y1354S possibly damaging Het
Mark1 A G 1: 184,919,435 probably benign Het
Mylpf A G 7: 127,213,177 I17V probably benign Het
Myo18b C A 5: 112,874,479 probably benign Het
Nbas C T 12: 13,483,749 A1795V probably benign Het
Olfr1134 A G 2: 87,656,688 S78P possibly damaging Het
Olfr1484 A G 19: 13,586,119 M272V probably benign Het
Olfr697 A T 7: 106,741,755 Y60N probably damaging Het
Oprm1 A C 10: 7,014,077 probably benign Het
Parp14 T C 16: 35,858,270 M443V probably benign Het
Psca T C 15: 74,714,868 F5S probably benign Het
Ptbp2 A T 3: 119,720,382 Y514* probably null Het
Scg3 A G 9: 75,661,251 probably null Het
Scn2a T C 2: 65,764,213 V1802A probably damaging Het
Serpinb3a A G 1: 107,046,342 S280P possibly damaging Het
Slc39a14 T C 14: 70,309,842 I352V probably damaging Het
Slc6a2 G T 8: 92,961,452 V69L probably damaging Het
Slc8a1 A G 17: 81,432,638 probably benign Het
Tjp1 T C 7: 65,314,969 D818G probably damaging Het
Trmt5 G A 12: 73,281,452 H326Y probably benign Het
Vmn1r222 T C 13: 23,232,462 M194V possibly damaging Het
Zbtb17 A G 4: 141,466,758 E699G probably damaging Het
Other mutations in Tnfaip8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Tnfaip8 APN 18 50090326 missense probably damaging 1.00
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 On2016-08-02