Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Traf6'

479396

Institutional Source

Beutler Lab

Gene Symbol

Traf6

Ensembl Gene

ENSMUSG00000027164

Gene Name

TNF receptor-associated factor 6

Synonyms

C630032O20Rik, 2310003F17Rik

MMRRC Submission

044425-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101508774-101532014 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 101527029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 260 (R260*)

Ref Sequence

ENSEMBL: ENSMUSP00000004949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004949]

AlphaFold

P70196

Predicted Effect

probably null
Transcript: ENSMUST00000004949
AA Change: R260*

SMART Domains

Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: R260*

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
RING	70	108	8.61e-9	SMART
internal_repeat_1	132	189	3.04e-6	PROSPERO
Pfam:zf-TRAF	204	261	2.6e-22	PFAM
MATH	363	490	2.87e-14	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: This gene encodes a member of the TNF receptor associated factor (TRAF) family of adaptor proteins that mediate signaling events from members of the TNF receptor and Toll/IL-1 receptor families to activate transcription factors such as NF-kappa-B and AP-1. The product of this gene is essential for perinatal and postnatal survival. Mice deficient in this protein exhibit osteopetrosis and defective in development of epidermal appendixes, normal B cell differentiation, lymph node organogenesis, interleukin-1 signaling, lipopolysaccharide signaling and neural tube closure. This protein possesses ubiquitin ligase activity. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bbs1	A	T	19: 4,953,823 (GRCm39)	Y113*	probably null	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Bpi	G	A	2: 158,104,400 (GRCm39)	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Ednra	A	G	8: 78,401,556 (GRCm39)	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Nktr	T	A	9: 121,577,460 (GRCm39)		probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,706,229 (GRCm39)	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Traf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Traf6	APN	2	101,515,128 (GRCm39)	missense	probably benign
IGL01619:Traf6	APN	2	101,520,443 (GRCm39)	nonsense	probably null
IGL01746:Traf6	APN	2	101,527,237 (GRCm39)	missense	possibly damaging	0.67
IGL02071:Traf6	APN	2	101,527,138 (GRCm39)	missense	probably benign	0.00
IGL02666:Traf6	APN	2	101,527,512 (GRCm39)	missense	possibly damaging	0.92
IGL02693:Traf6	APN	2	101,518,850 (GRCm39)	missense	possibly damaging	0.74
IGL02819:Traf6	APN	2	101,515,134 (GRCm39)	missense	probably damaging	1.00
Accordo	UTSW	2	101,527,029 (GRCm39)	nonsense	probably null
concurrence	UTSW	2	101,527,801 (GRCm39)	missense	probably damaging	1.00
consistency	UTSW	2	101,527,333 (GRCm39)	missense	possibly damaging	0.89
R0056:Traf6	UTSW	2	101,527,496 (GRCm39)	missense	possibly damaging	0.81
R0390:Traf6	UTSW	2	101,518,933 (GRCm39)	nonsense	probably null
R1470:Traf6	UTSW	2	101,526,994 (GRCm39)	splice site	probably benign
R1727:Traf6	UTSW	2	101,527,084 (GRCm39)	missense	probably benign
R2075:Traf6	UTSW	2	101,527,398 (GRCm39)	missense	probably benign	0.00
R4498:Traf6	UTSW	2	101,514,891 (GRCm39)	missense	probably benign	0.01
R5166:Traf6	UTSW	2	101,520,402 (GRCm39)	missense	probably benign	0.03
R5385:Traf6	UTSW	2	101,515,100 (GRCm39)	nonsense	probably null
R5636:Traf6	UTSW	2	101,527,254 (GRCm39)	missense	probably benign	0.06
R7472:Traf6	UTSW	2	101,527,537 (GRCm39)	missense	probably benign	0.05
R8175:Traf6	UTSW	2	101,521,825 (GRCm39)	missense	possibly damaging	0.86
R8462:Traf6	UTSW	2	101,527,801 (GRCm39)	missense	probably damaging	1.00
R9004:Traf6	UTSW	2	101,520,443 (GRCm39)	missense	probably benign	0.07
R9008:Traf6	UTSW	2	101,527,333 (GRCm39)	missense	possibly damaging	0.89
R9224:Traf6	UTSW	2	101,527,512 (GRCm39)	missense	probably benign	0.35
R9310:Traf6	UTSW	2	101,527,072 (GRCm39)	missense	possibly damaging	0.47
R9489:Traf6	UTSW	2	101,524,625 (GRCm39)	missense	probably damaging	1.00
R9510:Traf6	UTSW	2	101,521,825 (GRCm39)	missense	possibly damaging	0.86
R9554:Traf6	UTSW	2	101,518,953 (GRCm39)	missense	probably benign	0.01
R9605:Traf6	UTSW	2	101,524,625 (GRCm39)	missense	probably damaging	1.00
R9652:Traf6	UTSW	2	101,518,927 (GRCm39)	missense	probably damaging	1.00
R9747:Traf6	UTSW	2	101,527,029 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCAGAGTGACAGCTCAAAGTG -3'
(R):5'- ATGGTCCTGTCTTACTAGGCG -3'

Sequencing Primer
(F):5'- CAGCTCAAAGTGTTCATCAGTTGGC -3'
(R):5'- AGGCGACTCTCCAACTGTTTGATAG -3'

Posted On

2017-06-26