Mutagenetix > Incidental Mutation

Incidental Mutation 'R2085:Tifab'

230284

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

040090-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2085 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56321517-56326698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56324110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 111 (Q111R)

Ref Sequence

ENSEMBL: ENSMUSP00000152976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169652] [ENSMUST00000225063]

AlphaFold

Q8JZM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000169652
AA Change: Q111R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131162
Gene: ENSMUSG00000049625
AA Change: Q111R

Domain	Start	End	E-Value	Type
Pfam:FHA	36	108	6.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225063
AA Change: Q111R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	G	T	11: 69,791,198 (GRCm39)	T127K	possibly damaging	Het
A2m	T	G	6: 121,653,918 (GRCm39)	I1417S	probably damaging	Het
Acad10	A	G	5: 121,787,523 (GRCm39)	I142T	possibly damaging	Het
Adprm	T	A	11: 66,932,678 (GRCm39)	D77V	probably damaging	Het
Apob	C	T	12: 8,062,240 (GRCm39)	T3574I	probably damaging	Het
Bahcc1	A	G	11: 120,178,908 (GRCm39)	K2489R	probably damaging	Het
Bub1b	A	G	2: 118,452,676 (GRCm39)	E443G	possibly damaging	Het
Cd9	A	T	6: 125,440,734 (GRCm39)		probably null	Het
Cgnl1	G	A	9: 71,538,160 (GRCm39)	T1194M	probably damaging	Het
Clec9a	T	C	6: 129,387,274 (GRCm39)	V43A	probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Dpep3	A	G	8: 106,701,346 (GRCm39)	V401A	probably damaging	Het
Duox2	G	T	2: 122,111,448 (GRCm39)	H1417N	probably damaging	Het
Efhb	C	T	17: 53,733,937 (GRCm39)		probably null	Het
F2r	T	C	13: 95,741,418 (GRCm39)	N39S	probably benign	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Galt	G	A	4: 41,758,162 (GRCm39)	R309Q	probably damaging	Het
Gas2l2	C	A	11: 83,318,209 (GRCm39)	A167S	probably benign	Het
Hecw1	A	T	13: 14,438,672 (GRCm39)	F904I	possibly damaging	Het
Herc2	C	A	7: 55,862,713 (GRCm39)	H4127Q	possibly damaging	Het
Hipk1	T	C	3: 103,657,670 (GRCm39)	T805A	probably benign	Het
Hivep1	A	G	13: 42,337,226 (GRCm39)	E2435G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep2	C	A	10: 14,015,273 (GRCm39)	C1813*	probably null	Het
Hyal4	C	T	6: 24,755,749 (GRCm39)		probably benign	Het
Inpp4b	A	G	8: 82,678,903 (GRCm39)	Y311C	probably damaging	Het
Itih4	A	G	14: 30,614,280 (GRCm39)	Y410C	possibly damaging	Het
Lama2	A	T	10: 27,080,837 (GRCm39)	C995*	probably null	Het
Lingo4	C	A	3: 94,309,552 (GRCm39)	D163E	probably damaging	Het
Malt1	A	G	18: 65,606,218 (GRCm39)	D642G	probably damaging	Het
Mbd4	T	A	6: 115,825,918 (GRCm39)	M358L	probably benign	Het
Mbd5	T	A	2: 49,169,323 (GRCm39)	F1498Y	possibly damaging	Het
Me1	T	C	9: 86,495,607 (GRCm39)	Q280R	probably damaging	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or13p10	T	C	4: 118,523,301 (GRCm39)	S196P	probably damaging	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5h18	C	T	16: 58,848,232 (GRCm39)	V13I	probably benign	Het
Or8b1c	A	G	9: 38,384,223 (GRCm39)	Y60C	probably damaging	Het
Polr2j	T	C	5: 136,145,625 (GRCm39)	F7L	probably damaging	Het
Ppp1r16a	T	A	15: 76,577,796 (GRCm39)	D303E	probably damaging	Het
Prickle2	T	C	6: 92,353,345 (GRCm39)	E763G	probably damaging	Het
Rdh11	T	C	12: 79,229,556 (GRCm39)	Y239C	possibly damaging	Het
Sdhaf3	A	G	6: 6,956,048 (GRCm39)	R8G	probably benign	Het
Sgk2	T	C	2: 162,854,890 (GRCm39)	S305P	probably damaging	Het
Sptbn2	A	G	19: 4,788,587 (GRCm39)	S1189G	probably benign	Het
Stab2	A	G	10: 86,790,023 (GRCm39)	L581P	probably damaging	Het
Ubr3	C	T	2: 69,784,108 (GRCm39)	R775C	probably damaging	Het
Usp17lb	T	A	7: 104,489,622 (GRCm39)	Q434L	possibly damaging	Het
Wdr46	G	T	17: 34,160,425 (GRCm39)	E135*	probably null	Het
Zfp318	T	A	17: 46,720,590 (GRCm39)		probably null	Het
Zfp874a	T	A	13: 67,590,967 (GRCm39)	H239L	probably damaging	Het
Zscan29	A	T	2: 121,000,427 (GRCm39)	L60*	probably null	Het

Other mutations in Tifab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Tifab	APN	13	56,324,282 (GRCm39)	missense	probably damaging	1.00
IGL01695:Tifab	APN	13	56,324,198 (GRCm39)	missense	probably benign	0.00
IGL02117:Tifab	APN	13	56,324,275 (GRCm39)	missense	probably benign	0.10
R0068:Tifab	UTSW	13	56,324,218 (GRCm39)	missense	probably damaging	1.00
R0559:Tifab	UTSW	13	56,324,060 (GRCm39)	missense	probably benign	0.00
R1116:Tifab	UTSW	13	56,324,025 (GRCm39)	missense	possibly damaging	0.61
R1536:Tifab	UTSW	13	56,324,101 (GRCm39)	missense	probably benign	0.13
R1591:Tifab	UTSW	13	56,324,164 (GRCm39)	missense	probably benign	0.18
R1660:Tifab	UTSW	13	56,324,248 (GRCm39)	missense	probably damaging	0.98
R1710:Tifab	UTSW	13	56,324,433 (GRCm39)	missense	probably benign	0.00
R7006:Tifab	UTSW	13	56,324,059 (GRCm39)	missense	probably benign	0.00
R7350:Tifab	UTSW	13	56,324,120 (GRCm39)	missense	probably damaging	1.00
R8885:Tifab	UTSW	13	56,324,108 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAGAGTTCATGAGTTGCCTCCC -3'
(R):5'- ACAGCAGCTGCAACATGACG -3'

Sequencing Primer
(F):5'- TGAGTTGCCTCCCCCAAAACAG -3'
(R):5'- AGCTGCCACAGTTGTCTCG -3'

Posted On

2014-09-18