Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Traf3'

354622

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

041959-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4723 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

111132804-111233587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111228470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 560 (D560E)

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: D560E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
AA Change: D560E

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

probably damaging
Transcript: ENSMUST00000060274
AA Change: D535E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
AA Change: D535E

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

probably damaging
Transcript: ENSMUST00000117269
AA Change: D535E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
AA Change: D535E

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

0.8611

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,581,644 (GRCm39)	D4800G	probably benign	Het
Akna	T	C	4: 63,305,269 (GRCm39)	D499G	probably benign	Het
Arid1b	A	C	17: 5,387,565 (GRCm39)	I1673L	probably benign	Het
Bcr	T	A	10: 75,011,161 (GRCm39)	M24K	probably benign	Het
Bsn	A	G	9: 107,989,854 (GRCm39)	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,867,227 (GRCm39)	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc6	G	A	11: 98,799,657 (GRCm39)		probably null	Het
Cfap97d2	A	T	8: 13,785,937 (GRCm39)	N69I	probably damaging	Het
Cmtm1	C	T	8: 105,020,307 (GRCm39)	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,592,459 (GRCm39)	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,906,131 (GRCm39)		probably null	Het
Col5a3	T	C	9: 20,720,887 (GRCm39)	H149R	unknown	Het
Coro7	T	G	16: 4,449,858 (GRCm39)	Q634P	probably benign	Het
Crym	A	G	7: 119,800,298 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,532,556 (GRCm39)	F2546L	probably benign	Het
Dmap1	T	C	4: 117,533,236 (GRCm39)	T273A	probably benign	Het
Dnah1	T	C	14: 30,994,899 (GRCm39)	Y2786C	probably damaging	Het
Echs1	A	C	7: 139,690,561 (GRCm39)		probably benign	Het
Edem3	T	A	1: 151,680,449 (GRCm39)	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642 (GRCm39)	I127V	probably benign	Het
Fam193a	A	G	5: 34,578,130 (GRCm39)	D208G	probably benign	Het
Farp2	T	C	1: 93,508,621 (GRCm39)	V773A	probably benign	Het
Gas6	A	G	8: 13,516,848 (GRCm39)	V550A	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2423	A	G	13: 13,406,961 (GRCm39)		noncoding transcript	Het
Grin1	T	C	2: 25,184,482 (GRCm39)	S911G	probably benign	Het
Hkdc1	T	C	10: 62,236,133 (GRCm39)	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,048,176 (GRCm39)	Y519H	probably damaging	Het
Ikbkb	A	T	8: 23,159,623 (GRCm39)	M455K	probably benign	Het
Keap1	G	T	9: 21,142,706 (GRCm39)	H516Q	probably benign	Het
Klk1b27	A	T	7: 43,705,956 (GRCm39)	I220F	probably damaging	Het
Knop1	G	A	7: 118,455,087 (GRCm39)		probably benign	Het
Lhcgr	T	C	17: 89,050,030 (GRCm39)	T499A	probably benign	Het
Lrch3	A	T	16: 32,808,854 (GRCm39)		probably null	Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,648,962 (GRCm39)	L1652P	probably damaging	Het
Mbl1	T	C	14: 40,876,515 (GRCm39)	V71A	possibly damaging	Het
Med8	T	A	4: 118,268,998 (GRCm39)	M1K	probably null	Het
Mfsd2b	A	G	12: 4,918,992 (GRCm39)	L88P	probably benign	Het
Mkrn2	T	A	6: 115,588,811 (GRCm39)	C185S	probably damaging	Het
Myo1d	A	G	11: 80,670,667 (GRCm39)		probably benign	Het
Napg	T	G	18: 63,125,563 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,269,438 (GRCm39)	M253T	probably benign	Het
Oas3	T	C	5: 120,904,321 (GRCm39)	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,764,036 (GRCm39)		noncoding transcript	Het
Opn5	A	T	17: 42,918,091 (GRCm39)	M57K	probably damaging	Het
Or10a3n	A	T	7: 108,493,028 (GRCm39)	F195L	probably benign	Het
Or13j1	T	C	4: 43,705,785 (GRCm39)	K261R	probably damaging	Het
Or52p1	T	C	7: 104,267,696 (GRCm39)	V270A	possibly damaging	Het
Pde2a	C	G	7: 101,143,825 (GRCm39)	P148R	possibly damaging	Het
Prss56	C	T	1: 87,113,059 (GRCm39)	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,812,125 (GRCm39)		probably benign	Het
Rnase9	C	T	14: 51,276,901 (GRCm39)	G26R	probably damaging	Het
Skint4	T	C	4: 111,975,433 (GRCm39)	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,169,398 (GRCm39)	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,890,741 (GRCm39)	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,272,250 (GRCm39)	P476T	probably damaging	Het
Smchd1	A	T	17: 71,743,742 (GRCm39)	C474*	probably null	Het
Smurf1	A	T	5: 144,829,994 (GRCm39)	D336E	probably damaging	Het
Sox30	G	A	11: 45,875,592 (GRCm39)	S448N	probably benign	Het
Spag11a	G	A	8: 19,209,398 (GRCm39)	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,344,600 (GRCm39)	K92T	probably damaging	Het
Stam2	T	C	2: 52,610,962 (GRCm39)	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,391,489 (GRCm39)	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,899,410 (GRCm39)	P593S	probably benign	Het
Tek	T	C	4: 94,687,397 (GRCm39)	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,500,592 (GRCm39)	Y891C	probably benign	Het
Tmem220	A	G	11: 66,920,819 (GRCm39)	T75A	possibly damaging	Het
Txlnb	A	G	10: 17,675,015 (GRCm39)	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,286,602 (GRCm39)	N367Y	probably benign	Het
Vnn3	A	G	10: 23,727,589 (GRCm39)	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 80,980,274 (GRCm39)	R156H	probably 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
R0143:Traf3	UTSW	12	111,228,010 (GRCm39)	missense	probably damaging	1.00
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
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'- CGTTCAAGCAGAAAGTGACAC -3'
(R):5'- AGAAAATCCGTTGGGGTCTG -3'

Sequencing Primer
(F):5'- AGTGACACTTATGCTGATGGATC -3'
(R):5'- AAAATCCGTTGGGGTCTGTTTTCAC -3'

Posted On

2015-10-21