Mutagenetix > Incidental Mutation

Incidental Mutation 'R5779:Traf5'

446861

Institutional Source

Beutler Lab

Gene Symbol

Traf5

Ensembl Gene

ENSMUSG00000026637

Gene Name

TNF receptor-associated factor 5

Synonyms

MMRRC Submission

043377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191729166-191776868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 191729633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 473 (R473W)

Ref Sequence

ENSEMBL: ENSMUSP00000082710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085573]

AlphaFold

P70191

Predicted Effect

probably damaging
Transcript: ENSMUST00000085573
AA Change: R473W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082710
Gene: ENSMUSG00000026637
AA Change: R473W

Domain	Start	End	E-Value	Type
RING	45	84	1.74e-4	SMART
Pfam:zf-TRAF	128	183	4.8e-21	PFAM
Pfam:zf-TRAF	183	241	4.2e-19	PFAM
MATH	402	525	2.42e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175262

Predicted Effect

unknown
Transcript: ENSMUST00000192628
AA Change: R170W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195647

Meta Mutation Damage Score

0.6191

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice show defects in lymphocyte activation but are otherwise viable and develop normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,075,496 (GRCm39)	M1332V	probably benign	Het
Acsbg3	A	T	17: 57,188,061 (GRCm39)	N190Y	probably benign	Het
Afg3l2	T	C	18: 67,573,513 (GRCm39)	K132R	probably null	Het
Antkmt	A	G	17: 26,009,631 (GRCm39)	V194A	probably benign	Het
Arap3	T	C	18: 38,117,418 (GRCm39)	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,542,502 (GRCm39)		probably null	Het
Cdk12	T	A	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Ceacam12	C	A	7: 17,803,079 (GRCm39)	P162T	probably benign	Het
Chrna5	C	A	9: 54,905,388 (GRCm39)	H67N	probably benign	Het
Copb1	T	A	7: 113,818,807 (GRCm39)	D837V	probably damaging	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Ect2l	T	A	10: 18,039,186 (GRCm39)	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,830,249 (GRCm39)	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,243,444 (GRCm39)	N208T	possibly damaging	Het
Ext1	A	G	15: 53,207,949 (GRCm39)	Y271H	probably damaging	Het
Fbxo5	G	A	10: 5,750,303 (GRCm39)	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,844,488 (GRCm39)	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,955,082 (GRCm39)		probably benign	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Gucy1b2	C	A	14: 62,651,750 (GRCm39)	L400F	possibly damaging	Het
Hgd	T	A	16: 37,413,733 (GRCm39)	L24H	probably benign	Het
Hmx3	C	A	7: 131,146,057 (GRCm39)	S255*	probably null	Het
Ifrd1	A	T	12: 40,253,369 (GRCm39)	F448I	probably damaging	Het
Igfn1	T	A	1: 135,894,578 (GRCm39)	E1996V	probably benign	Het
Itpr1	G	A	6: 108,329,104 (GRCm39)	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,095,515 (GRCm39)	S26P	probably benign	Het
Kctd17	A	T	15: 78,321,333 (GRCm39)		probably benign	Het
Matr3	T	C	18: 35,717,575 (GRCm39)	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,190,825 (GRCm39)	A90V	probably benign	Het
Mrpl20	G	A	4: 155,891,378 (GRCm39)	R34Q	probably damaging	Het
Neb	A	T	2: 52,135,313 (GRCm39)	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,179,650 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,326,652 (GRCm39)	T46S	possibly damaging	Het
Nsd3	G	T	8: 26,172,685 (GRCm39)	E815*	probably null	Het
Nup98	C	A	7: 101,801,568 (GRCm39)	V786L	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,520 (GRCm39)	V162A	probably benign	Het
Pcgf2	G	A	11: 97,581,117 (GRCm39)	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318 (GRCm39)	F110L	probably damaging	Het
Relch	T	G	1: 105,615,072 (GRCm39)	N246K	probably damaging	Het
Scfd1	A	G	12: 51,478,312 (GRCm39)	N508S	probably benign	Het
Scn2a	T	C	2: 65,594,827 (GRCm39)	V1892A	probably benign	Het
Sema6a	G	A	18: 47,381,893 (GRCm39)	R885C	probably damaging	Het
Sik2	T	C	9: 50,807,145 (GRCm39)	H755R	probably benign	Het
Slc36a3	A	T	11: 55,026,094 (GRCm39)	Y241*	probably null	Het
Smg5	T	C	3: 88,258,925 (GRCm39)		probably benign	Het
Spag9	A	G	11: 94,005,079 (GRCm39)	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,013,908 (GRCm39)	M53V	probably benign	Het
Tpr	C	T	1: 150,299,292 (GRCm39)	A1090V	probably damaging	Het
Ush2a	T	C	1: 188,175,707 (GRCm39)		probably null	Het
Vit	A	G	17: 78,853,855 (GRCm39)	T34A	probably benign	Het

Other mutations in Traf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Traf5	APN	1	191,741,589 (GRCm39)	missense	possibly damaging	0.95
IGL01462:Traf5	APN	1	191,731,828 (GRCm39)	missense	probably benign
IGL02262:Traf5	APN	1	191,729,636 (GRCm39)	missense	probably damaging	1.00
IGL02579:Traf5	APN	1	191,731,848 (GRCm39)	missense	probably damaging	0.99
IGL03308:Traf5	APN	1	191,729,461 (GRCm39)	missense	probably damaging	0.99
PIT4445001:Traf5	UTSW	1	191,729,768 (GRCm39)	missense
R0028:Traf5	UTSW	1	191,758,421 (GRCm39)	intron	probably benign
R0689:Traf5	UTSW	1	191,729,837 (GRCm39)	missense	probably benign	0.16
R1511:Traf5	UTSW	1	191,731,912 (GRCm39)	missense	probably benign	0.01
R1641:Traf5	UTSW	1	191,729,470 (GRCm39)	missense	probably benign	0.20
R2235:Traf5	UTSW	1	191,738,806 (GRCm39)	missense	probably damaging	1.00
R2246:Traf5	UTSW	1	191,751,190 (GRCm39)	splice site	probably null
R2301:Traf5	UTSW	1	191,729,926 (GRCm39)	missense	probably benign	0.01
R3973:Traf5	UTSW	1	191,729,837 (GRCm39)	missense	probably benign	0.16
R4396:Traf5	UTSW	1	191,729,806 (GRCm39)	missense	probably benign	0.22
R4793:Traf5	UTSW	1	191,729,765 (GRCm39)	missense	probably benign	0.38
R4834:Traf5	UTSW	1	191,751,198 (GRCm39)	missense	probably benign	0.10
R5795:Traf5	UTSW	1	191,731,807 (GRCm39)	missense	probably benign	0.00
R5843:Traf5	UTSW	1	191,729,446 (GRCm39)	missense	possibly damaging	0.55
R5912:Traf5	UTSW	1	191,730,030 (GRCm39)	intron	probably benign
R5963:Traf5	UTSW	1	191,731,977 (GRCm39)	missense	probably benign	0.06
R6246:Traf5	UTSW	1	191,754,853 (GRCm39)	missense	probably damaging	0.99
R6287:Traf5	UTSW	1	191,731,833 (GRCm39)	missense	probably damaging	1.00
R6455:Traf5	UTSW	1	191,731,887 (GRCm39)	missense	probably benign	0.00
R7248:Traf5	UTSW	1	191,743,432 (GRCm39)	missense	probably benign	0.20
R7452:Traf5	UTSW	1	191,731,792 (GRCm39)	missense
R8147:Traf5	UTSW	1	191,746,984 (GRCm39)	missense	probably damaging	1.00
R9301:Traf5	UTSW	1	191,729,489 (GRCm39)	missense
R9307:Traf5	UTSW	1	191,747,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGAGTTCTCCAGAGTAGAG -3'
(R):5'- AGTGGCAAGCTCATCTGGAAG -3'

Sequencing Primer
(F):5'- TTCTCCAGAGTAGAGTGCGACAC -3'
(R):5'- CAAGCTCATCTGGAAGGTGAC -3'

Posted On

2016-12-15