Incidental Mutation 'IGL01695:Tifab'
ID 104255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tifab
Ensembl Gene ENSMUSG00000049625
Gene Name TRAF-interacting protein with forkhead-associated domain, family member B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01695
Quality Score
Status
Chromosome 13
Chromosomal Location 56173704-56178885 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56176385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 82 (S82G)
Ref Sequence ENSEMBL: ENSMUSP00000152976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169652] [ENSMUST00000225063]
AlphaFold Q8JZM6
Predicted Effect probably benign
Transcript: ENSMUST00000169652
AA Change: S82G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000131162
Gene: ENSMUSG00000049625
AA Change: S82G

DomainStartEndE-ValueType
Pfam:FHA 36 108 6.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225063
AA Change: S82G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Tifab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Tifab APN 13 56176469 missense probably damaging 1.00
IGL02117:Tifab APN 13 56176462 missense probably benign 0.10
R0068:Tifab UTSW 13 56176405 missense probably damaging 1.00
R0559:Tifab UTSW 13 56176247 missense probably benign 0.00
R1116:Tifab UTSW 13 56176212 missense possibly damaging 0.61
R1536:Tifab UTSW 13 56176288 missense probably benign 0.13
R1591:Tifab UTSW 13 56176351 missense probably benign 0.18
R1660:Tifab UTSW 13 56176435 missense probably damaging 0.98
R1710:Tifab UTSW 13 56176620 missense probably benign 0.00
R2085:Tifab UTSW 13 56176297 missense probably damaging 1.00
R7006:Tifab UTSW 13 56176246 missense probably benign 0.00
R7350:Tifab UTSW 13 56176307 missense probably damaging 1.00
R8885:Tifab UTSW 13 56176295 missense probably benign 0.03
Posted On 2014-01-21