Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Traf3'

29615

Institutional Source

Beutler Lab

Gene Symbol

Traf3

Ensembl Gene

ENSMUSG00000021277

Gene Name

TNF receptor-associated factor 3

Synonyms

CAP-1, CRAF1, CD40bp, LAP1

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0143 (G1)

Quality Score

156

Status

Validated (trace)

Chromosome

Chromosomal Location

111132804-111233587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111228010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 407 (V407D)

Ref Sequence

ENSEMBL: ENSMUSP00000021706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021706] [ENSMUST00000060274] [ENSMUST00000117269]

AlphaFold

Q60803

PDB Structure

Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021706
AA Change: V407D

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

SMART Domains

Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
AA Change: V407D

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	4.6e-18	PFAM
Pfam:zf-TRAF	191	250	9.9e-14	PFAM
coiled coil region	298	337	N/A	INTRINSIC
MATH	419	542	5.69e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060274
AA Change: V382D

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
AA Change: V382D

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	1.5e-17	PFAM
coiled coil region	273	312	N/A	INTRINSIC
MATH	394	517	5.69e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117269
AA Change: V382D

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
AA Change: V382D

Domain	Start	End	E-Value	Type
RING	52	87	5.85e-2	SMART
Pfam:zf-TRAF	135	191	1.5e-17	PFAM
coiled coil region	273	312	N/A	INTRINSIC
MATH	394	517	5.69e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143395

Meta Mutation Damage Score

0.9120

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in progressive runting, hypoglycemia, and depletion of peripheral white blood cells, leading to death by 10 days of age. Immune responses to T-dependent antigen are impaired in lethally irradiated mice reconstituted with mutant cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	Het

Other mutations in Traf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Traf3	APN	12	111,205,501 (GRCm39)	missense	probably damaging	0.99
IGL02015:Traf3	APN	12	111,219,174 (GRCm39)	missense	probably benign
IGL02318:Traf3	APN	12	111,204,031 (GRCm39)	missense	probably benign
IGL02429:Traf3	APN	12	111,209,899 (GRCm39)	missense	probably benign	0.19
IGL03088:Traf3	APN	12	111,228,277 (GRCm39)	missense	probably damaging	0.99
bananasplit	UTSW	12	111,228,470 (GRCm39)	missense	probably damaging	1.00
Han	UTSW	12	111,228,010 (GRCm39)	missense	probably damaging	1.00
Hulk	UTSW	12	111,228,010 (GRCm39)	missense	probably damaging	1.00
Magnificent	UTSW	12	111,204,187 (GRCm39)	missense	probably damaging	1.00
sundae	UTSW	12	111,221,658 (GRCm39)	missense	possibly damaging	0.80
R0023:Traf3	UTSW	12	111,209,912 (GRCm39)	nonsense	probably null
R1453:Traf3	UTSW	12	111,221,757 (GRCm39)	missense	probably damaging	0.96
R1507:Traf3	UTSW	12	111,227,194 (GRCm39)	missense	probably benign	0.30
R1651:Traf3	UTSW	12	111,228,470 (GRCm39)	missense	probably damaging	1.00
R1714:Traf3	UTSW	12	111,208,907 (GRCm39)	missense	probably benign	0.01
R1996:Traf3	UTSW	12	111,227,095 (GRCm39)	missense	probably benign	0.21
R1997:Traf3	UTSW	12	111,227,095 (GRCm39)	missense	probably benign	0.21
R3946:Traf3	UTSW	12	111,221,679 (GRCm39)	missense	possibly damaging	0.91
R4477:Traf3	UTSW	12	111,215,036 (GRCm39)	missense	probably benign	0.00
R4645:Traf3	UTSW	12	111,228,400 (GRCm39)	missense	probably damaging	1.00
R4723:Traf3	UTSW	12	111,228,470 (GRCm39)	missense	probably damaging	1.00
R4820:Traf3	UTSW	12	111,227,204 (GRCm39)	missense	possibly damaging	0.96
R5123:Traf3	UTSW	12	111,209,952 (GRCm39)	missense	possibly damaging	0.52
R5775:Traf3	UTSW	12	111,219,162 (GRCm39)	missense	possibly damaging	0.91
R5825:Traf3	UTSW	12	111,221,795 (GRCm39)	missense	probably benign	0.03
R5912:Traf3	UTSW	12	111,221,783 (GRCm39)	missense	probably benign	0.01
R6611:Traf3	UTSW	12	111,204,074 (GRCm39)	missense	possibly damaging	0.76
R6933:Traf3	UTSW	12	111,221,658 (GRCm39)	missense	possibly damaging	0.80
R7389:Traf3	UTSW	12	111,204,187 (GRCm39)	missense	probably damaging	1.00
R7425:Traf3	UTSW	12	111,227,095 (GRCm39)	nonsense	probably null
R8512:Traf3	UTSW	12	111,228,426 (GRCm39)	missense	probably benign	0.06
R8705:Traf3	UTSW	12	111,208,938 (GRCm39)	missense	possibly damaging	0.68
R8744:Traf3	UTSW	12	111,228,230 (GRCm39)	missense	probably benign	0.40
R9144:Traf3	UTSW	12	111,228,294 (GRCm39)	missense	probably benign
X0052:Traf3	UTSW	12	111,219,170 (GRCm39)	missense	probably benign	0.41
Z1176:Traf3	UTSW	12	111,228,270 (GRCm39)	missense	probably damaging	1.00
Z1177:Traf3	UTSW	12	111,227,926 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAGCCTGAATGAGCAGTGATGG -3'
(R):5'- AGCGACAAGTGTGTCCCTTTCC -3'

Sequencing Primer
(F):5'- GTACCTTGTGACGACCAGAG -3'
(R):5'- AAGTGTGTCCCTTTCCCCATTC -3'

Posted On

2013-04-18