Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Traf6'

440353

Institutional Source

Beutler Lab

Gene Symbol

Traf6

Ensembl Gene

ENSMUSG00000027164

Gene Name

TNF receptor-associated factor 6

Synonyms

C630032O20Rik, 2310003F17Rik

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101678429-101701669 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101696909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 335 (V335M)

Ref Sequence

ENSEMBL: ENSMUSP00000004949 (fasta)

Gene Model

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

AlphaFold

P70196

Predicted Effect

probably benign
Transcript: ENSMUST00000004949
AA Change: V335M

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004949
Gene: ENSMUSG00000027164
AA Change: V335M

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982 (GRCm38)	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536 (GRCm38)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056 (GRCm38)	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025 (GRCm38)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309 (GRCm38)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372 (GRCm38)	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933 (GRCm38)		probably benign	Het
Atp10d	A	G	5: 72,288,219 (GRCm38)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385 (GRCm38)		probably benign	Het
Bms1	C	A	6: 118,388,825 (GRCm38)	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723 (GRCm38)	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442 (GRCm38)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742 (GRCm38)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306 (GRCm38)	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585 (GRCm38)	R41C	probably benign	Het
Dnaaf11	A	T	15: 66,500,816 (GRCm38)		probably null	Het
Fat2	T	C	11: 55,282,481 (GRCm38)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018 (GRCm38)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686 (GRCm38)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058 (GRCm38)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945 (GRCm38)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456 (GRCm38)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301 (GRCm38)	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078 (GRCm38)	D644G	probably benign	Het
Mdn1	C	T	4: 32,695,480 (GRCm38)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240 (GRCm38)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470 (GRCm38)	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528 (GRCm38)	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676 (GRCm38)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294 (GRCm38)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399 (GRCm38)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188 (GRCm38)	K755*	probably null	Het
Or2av9	T	C	11: 58,490,051 (GRCm38)	K235E	probably damaging	Het
Or9i2	C	T	19: 13,838,337 (GRCm38)	V279M	possibly damaging	Het
Pik3ca	G	A	3: 32,461,560 (GRCm38)	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192 (GRCm38)		probably null	Het
Ric3	G	A	7: 109,038,820 (GRCm38)	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629 (GRCm38)	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905 (GRCm38)	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954 (GRCm38)	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594 (GRCm38)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014 (GRCm38)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193 (GRCm38)	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193 (GRCm38)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216 (GRCm38)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829 (GRCm38)		probably null	Het
Spag9	C	A	11: 94,069,012 (GRCm38)	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404 (GRCm38)		probably benign	Het
Stam	G	T	2: 14,117,427 (GRCm38)	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224 (GRCm38)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm38)	E157G	probably damaging	Het
Ubr5	T	A	15: 37,983,996 (GRCm38)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429 (GRCm38)	H605R	probably damaging	Het

Other mutations in Traf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Traf6	APN	2	101,684,783 (GRCm38)	missense	probably benign
IGL01619:Traf6	APN	2	101,690,098 (GRCm38)	nonsense	probably null
IGL01746:Traf6	APN	2	101,696,892 (GRCm38)	missense	possibly damaging	0.67
IGL02071:Traf6	APN	2	101,696,793 (GRCm38)	missense	probably benign	0.00
IGL02666:Traf6	APN	2	101,697,167 (GRCm38)	missense	possibly damaging	0.92
IGL02693:Traf6	APN	2	101,688,505 (GRCm38)	missense	possibly damaging	0.74
IGL02819:Traf6	APN	2	101,684,789 (GRCm38)	missense	probably damaging	1.00
Accordo	UTSW	2	101,696,684 (GRCm38)	nonsense	probably null
concurrence	UTSW	2	101,697,456 (GRCm38)	missense	probably damaging	1.00
consistency	UTSW	2	101,696,988 (GRCm38)	missense	possibly damaging	0.89
R0056:Traf6	UTSW	2	101,697,151 (GRCm38)	missense	possibly damaging	0.81
R0390:Traf6	UTSW	2	101,688,588 (GRCm38)	nonsense	probably null
R1470:Traf6	UTSW	2	101,696,649 (GRCm38)	splice site	probably benign
R1727:Traf6	UTSW	2	101,696,739 (GRCm38)	missense	probably benign
R2075:Traf6	UTSW	2	101,697,053 (GRCm38)	missense	probably benign	0.00
R4498:Traf6	UTSW	2	101,684,546 (GRCm38)	missense	probably benign	0.01
R5166:Traf6	UTSW	2	101,690,057 (GRCm38)	missense	probably benign	0.03
R5385:Traf6	UTSW	2	101,684,755 (GRCm38)	nonsense	probably null
R6005:Traf6	UTSW	2	101,696,684 (GRCm38)	nonsense	probably null
R7472:Traf6	UTSW	2	101,697,192 (GRCm38)	missense	probably benign	0.05
R8175:Traf6	UTSW	2	101,691,480 (GRCm38)	missense	possibly damaging	0.86
R8462:Traf6	UTSW	2	101,697,456 (GRCm38)	missense	probably damaging	1.00
R9004:Traf6	UTSW	2	101,690,098 (GRCm38)	missense	probably benign	0.07
R9008:Traf6	UTSW	2	101,696,988 (GRCm38)	missense	possibly damaging	0.89
R9224:Traf6	UTSW	2	101,697,167 (GRCm38)	missense	probably benign	0.35
R9310:Traf6	UTSW	2	101,696,727 (GRCm38)	missense	possibly damaging	0.47
R9489:Traf6	UTSW	2	101,694,280 (GRCm38)	missense	probably damaging	1.00
R9510:Traf6	UTSW	2	101,691,480 (GRCm38)	missense	possibly damaging	0.86
R9554:Traf6	UTSW	2	101,688,608 (GRCm38)	missense	probably benign	0.01
R9605:Traf6	UTSW	2	101,694,280 (GRCm38)	missense	probably damaging	1.00
R9652:Traf6	UTSW	2	101,688,582 (GRCm38)	missense	probably damaging	1.00
R9747:Traf6	UTSW	2	101,696,684 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCCAGGCTGTTCATAATG -3'
(R):5'- CGGTAACTGAAGATGCAGGC -3'

Sequencing Primer
(F):5'- GGCCCAGGCTGTTCATAATGTTAAC -3'
(R):5'- ATGCACAGCTTGTACCCAGGTC -3'

Posted On

2016-11-08