Incidental Mutation 'R1116:Tifab'
ID 97325
Institutional Source Beutler Lab
Gene Symbol Tifab
Ensembl Gene ENSMUSG00000049625
Gene Name TRAF-interacting protein with forkhead-associated domain, family member B
Synonyms
MMRRC Submission 039189-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1116 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 56173704-56178885 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56176212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 139 (R139S)
Ref Sequence ENSEMBL: ENSMUSP00000152976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169652] [ENSMUST00000225063]
AlphaFold Q8JZM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000169652
AA Change: R139S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131162
Gene: ENSMUSG00000049625
AA Change: R139S

DomainStartEndE-ValueType
Pfam:FHA 36 108 6.4e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000225063
AA Change: R139S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.8%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A T 10: 3,120,180 noncoding transcript Het
Abi3bp T C 16: 56,686,429 probably benign Het
Acacb C T 5: 114,210,956 P1028S probably damaging Het
Acad10 A G 5: 121,630,751 F717S probably damaging Het
Adgrg6 A T 10: 14,438,428 Y705N probably benign Het
Adm A G 7: 110,628,294 I6V probably benign Het
Agps T G 2: 75,861,925 probably benign Het
Atr C T 9: 95,867,636 Q501* probably null Het
Cacna2d3 A G 14: 29,064,321 probably benign Het
Ccnt1 G A 15: 98,544,338 R350W probably damaging Het
Cfap74 G A 4: 155,433,996 E564K probably benign Het
Clip1 T C 5: 123,579,491 E1250G probably damaging Het
Cryz A C 3: 154,621,603 probably benign Het
Dnah1 C A 14: 31,307,867 V494F probably benign Het
Dpep3 G T 8: 105,978,829 D96E probably damaging Het
Dyrk3 G A 1: 131,129,182 A418V probably damaging Het
Ehf T A 2: 103,267,009 N231I probably damaging Het
Eif4g3 T C 4: 138,091,775 probably null Het
Ergic3 G A 2: 156,016,787 V278M probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam178b A T 1: 36,578,588 C82* probably null Het
Gm1647 C T 3: 69,156,872 Q31* probably null Het
Got1 T A 19: 43,502,974 K346* probably null Het
Grid2ip G A 5: 143,382,914 G656D possibly damaging Het
Grm2 A G 9: 106,647,927 Y530H probably damaging Het
Hyou1 T C 9: 44,384,681 I381T probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
March11 T C 15: 26,409,295 L360P probably damaging Het
Mettl17 T C 14: 51,889,598 V281A probably benign Het
Micu2 A T 14: 57,954,200 D131E probably benign Het
Mug1 G C 6: 121,870,645 V661L probably benign Het
Myo18b A T 5: 112,803,279 D1488E probably damaging Het
Nkg7 G A 7: 43,437,454 V51I probably benign Het
Nlgn1 A C 3: 25,433,874 S766A probably benign Het
Olfr462 T A 11: 87,889,408 M163L probably benign Het
Otog T C 7: 46,300,601 probably benign Het
Pax2 T C 19: 44,757,424 S11P probably damaging Het
Pck2 A G 14: 55,545,366 D392G probably benign Het
Plxnd1 A T 6: 115,967,005 probably null Het
Prkdc A G 16: 15,783,079 D2868G probably benign Het
Prl3d2 T C 13: 27,126,002 L149P probably damaging Het
Purg A T 8: 33,386,745 H137L probably benign Het
Slc38a8 A T 8: 119,496,133 L150Q probably damaging Het
Txndc16 T C 14: 45,162,985 H353R probably benign Het
Upk2 A G 9: 44,453,789 probably null Het
Zdhhc25 G A 15: 88,600,620 V53I probably benign Het
Zfp738 T A 13: 67,670,243 probably null Het
Zfp810 C T 9: 22,279,085 E176K probably benign Het
Zfp846 T A 9: 20,593,263 W140R possibly damaging Het
Other mutations in Tifab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Tifab APN 13 56176469 missense probably damaging 1.00
IGL01695:Tifab APN 13 56176385 missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCAGTTCCCTGTGAACATGGCG -3'
(R):5'- TACCTGGAGAAAGGCAGCAGTCTG -3'

Sequencing Primer
(F):5'- TGTGTGTCAACCTCACAGG -3'
(R):5'- TCTGCCTCAAGGTGCTGAC -3'
Posted On 2014-01-05