Mutagenetix > Incidental Mutation

Incidental Mutation 'R9051:Traf4'

688390

Institutional Source

Beutler Lab

Gene Symbol

Traf4

Ensembl Gene

ENSMUSG00000017386

Gene Name

TNF receptor associated factor 4

Synonyms

msp2, CART1, A530032M13Rik

MMRRC Submission

068877-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R9051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78049325-78056415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78052005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 160 (C160S)

Ref Sequence

ENSEMBL: ENSMUSP00000017530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000017549] [ENSMUST00000073705] [ENSMUST00000155571]

AlphaFold

Q61382

Predicted Effect

probably damaging
Transcript: ENSMUST00000017530
AA Change: C160S

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

SMART Domains

Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: C160S

Domain	Start	End	E-Value	Type
RING	18	57	1.41e-4	SMART
Pfam:zf-TRAF	102	156	3.4e-19	PFAM
Pfam:zf-TRAF	156	210	4e-12	PFAM
Pfam:zf-TRAF	210	269	4.2e-23	PFAM
low complexity region	287	302	N/A	INTRINSIC
MATH	312	445	1.04e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017549

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
S_TKc	4	258	1.59e-81	SMART
low complexity region	288	316	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
Pfam:RCC1	415	464	4.1e-12	PFAM
Pfam:RCC1_2	451	480	9.2e-10	PFAM
Pfam:RCC1	467	516	9.9e-16	PFAM
Pfam:RCC1	585	634	4.4e-15	PFAM
Pfam:RCC1	637	687	2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073705

SMART Domains

Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750

Domain	Start	End	E-Value	Type
Pfam:FAM222A	27	562	5.6e-233	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155571

SMART Domains

Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750

Domain	Start	End	E-Value	Type
Pfam:FAM222A	27	562	3.2e-259	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show respiratory problems, various skeletal defects, spina bifida and partial lethality around embryonic day 14. Homozygotes for an ENU-induced mutation exhibit postnatal lethality and hypopigmentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,232 (GRCm39)	T3289S	probably damaging	Het
Actr1b	G	T	1: 36,740,534 (GRCm39)	Q240K	probably benign	Het
Adamts19	T	C	18: 59,034,048 (GRCm39)	V341A	probably damaging	Het
Akirin2	C	A	4: 34,551,148 (GRCm39)	S35*	probably null	Het
Alg3	G	T	16: 20,427,765 (GRCm39)	Q90K	probably benign	Het
Alox12	C	T	11: 70,138,153 (GRCm39)	R394H	possibly damaging	Het
Ankrd17	A	C	5: 90,411,134 (GRCm39)	M1387R	probably damaging	Het
Anp32b	T	G	4: 46,468,592 (GRCm39)	F121V	possibly damaging	Het
Atp2b2	A	G	6: 113,740,566 (GRCm39)	V815A	probably damaging	Het
Atxn7l1	T	C	12: 33,417,420 (GRCm39)	L527S	probably benign	Het
B9d2	C	T	7: 25,385,462 (GRCm39)	L91F	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,221 (GRCm39)	I188N	probably damaging	Het
Bnc2	A	C	4: 84,210,138 (GRCm39)	S744A	probably benign	Het
Casr	T	G	16: 36,330,414 (GRCm39)	M307L	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd109	TTATA	TTATATATA	9: 78,619,813 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,575,449 (GRCm39)	S198P	probably benign	Het
Cd37	C	A	7: 44,886,622 (GRCm39)	V99L	probably benign	Het
Cdkn1c	A	G	7: 143,013,964 (GRCm39)	S161P	possibly damaging	Het
Chi3l1	G	T	1: 134,111,919 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,198 (GRCm39)	F1669S	probably damaging	Het
Dchs2	A	T	3: 83,261,493 (GRCm39)	H2587L	probably benign	Het
Ddx19a	A	T	8: 111,710,228 (GRCm39)	M124K	probably benign	Het
Dnhd1	A	T	7: 105,341,933 (GRCm39)	H1244L	possibly damaging	Het
Dnpep	G	A	1: 75,292,329 (GRCm39)	P165L	probably damaging	Het
Dpp3	T	C	19: 4,973,172 (GRCm39)	R141G	probably benign	Het
Dpysl3	T	C	18: 43,462,814 (GRCm39)	D521G	probably damaging	Het
Dusp4	T	A	8: 35,284,345 (GRCm39)	M220K	probably damaging	Het
Duxf4	G	A	10: 58,071,711 (GRCm39)	P168S	probably damaging	Het
Edc4	T	A	8: 106,613,833 (GRCm39)	L391Q	probably damaging	Het
Edrf1	A	C	7: 133,273,207 (GRCm39)	I1221L	probably benign	Het
Elavl2	A	G	4: 91,199,847 (GRCm39)	L12P	probably benign	Het
Fastkd3	T	A	13: 68,733,071 (GRCm39)	V464D	probably damaging	Het
Flt4	C	A	11: 49,527,598 (GRCm39)	N920K	probably benign	Het
Gimap3	T	C	6: 48,742,259 (GRCm39)	T224A	probably benign	Het
Gm9772	T	A	17: 22,225,565 (GRCm39)	K112*	probably null	Het
Gp5	C	A	16: 30,127,976 (GRCm39)	V233L		Het
Gpr25	A	T	1: 136,188,026 (GRCm39)	W196R	probably benign	Het
Hs3st4	G	A	7: 123,582,680 (GRCm39)	G93S	probably damaging	Het
Igsf10	A	G	3: 59,236,668 (GRCm39)	L1171S	probably benign	Het
Itgb7	C	T	15: 102,126,359 (GRCm39)	G526S	possibly damaging	Het
Kcnh8	G	A	17: 53,141,642 (GRCm39)	C295Y	probably damaging	Het
Klhl8	A	G	5: 104,015,709 (GRCm39)		probably null	Het
Krt1c	T	A	15: 101,726,317 (GRCm39)	I74F	unknown	Het
Lamp5	G	T	2: 135,911,054 (GRCm39)	M262I	probably benign	Het
Lrp5	G	T	19: 3,680,156 (GRCm39)	R443S	possibly damaging	Het
Lrrc66	G	T	5: 73,765,267 (GRCm39)	A592E	probably benign	Het
Lrrc66	C	T	5: 73,765,268 (GRCm39)	A592T	probably benign	Het
Mettl23	T	A	11: 116,744,865 (GRCm39)	V93D	unknown	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mkrn2os	G	A	6: 115,562,325 (GRCm39)	R213W	probably benign	Het
Mrps36	T	A	13: 100,877,715 (GRCm39)	I22L	probably damaging	Het
Msantd5f4	A	G	4: 73,557,185 (GRCm39)	N6S	possibly damaging	Het
Myocd	T	C	11: 65,077,795 (GRCm39)	R667G	probably benign	Het
Ncapg	T	A	5: 45,853,140 (GRCm39)	L869M	probably damaging	Het
Ndst3	T	C	3: 123,465,549 (GRCm39)	N141S	probably benign	Het
Neu2	A	T	1: 87,524,965 (GRCm39)	R317*	probably null	Het
Nf1	G	T	11: 79,364,168 (GRCm39)	V1533F	probably damaging	Het
Npy4r	T	A	14: 33,869,083 (GRCm39)	R68S	possibly damaging	Het
Nr1h5	T	C	3: 102,853,427 (GRCm39)	H360R	probably null	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or4f14c	T	C	2: 111,941,441 (GRCm39)	D52G	probably damaging	Het
Or9s15	T	C	1: 92,524,978 (GRCm39)	S246P	probably damaging	Het
Osmr	A	C	15: 6,882,027 (GRCm39)	V39G	probably damaging	Het
Plekhm2	T	C	4: 141,359,732 (GRCm39)	D345G	possibly damaging	Het
Prkaa2	G	T	4: 104,906,600 (GRCm39)	S165*	probably null	Het
Qser1	A	T	2: 104,593,292 (GRCm39)	F1575Y	possibly damaging	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Ret	A	T	6: 118,142,888 (GRCm39)	Y929*	probably null	Het
Samd9l	T	A	6: 3,373,493 (GRCm39)	E1256V	probably benign	Het
Scnn1g	A	G	7: 121,341,566 (GRCm39)	I243V	possibly damaging	Het
Slc6a3	C	T	13: 73,718,031 (GRCm39)	R514*	probably null	Het
Sorcs3	C	T	19: 48,194,809 (GRCm39)	A64V	probably benign	Het
Sos1	G	T	17: 80,715,723 (GRCm39)	N1011K	probably benign	Het
Srbd1	C	A	17: 86,428,115 (GRCm39)	A373S	possibly damaging	Het
Tas1r1	C	T	4: 152,122,833 (GRCm39)	W4*	probably null	Het
Tcf15	C	T	2: 151,985,690 (GRCm39)	R49C	probably damaging	Het
Tex30	A	G	1: 44,127,136 (GRCm39)	V124A	possibly damaging	Het
Tgif1	T	C	17: 71,151,882 (GRCm39)	D243G		Het
Tgtp1	T	G	11: 48,877,916 (GRCm39)	D263A	probably damaging	Het
Themis3	T	A	17: 66,862,864 (GRCm39)	T365S	probably benign	Het
Thoc2l	C	A	5: 104,666,818 (GRCm39)	P447T	probably benign	Het
Tprg1	A	T	16: 25,231,662 (GRCm39)	I213F	probably damaging	Het
Trio	T	C	15: 27,732,770 (GRCm39)	E3037G	possibly damaging	Het
Ttbk2	G	T	2: 120,575,911 (GRCm39)	S1022*	probably null	Het
Ttc6	T	C	12: 57,783,949 (GRCm39)	Y1803H	probably damaging	Het
Ttn	A	C	2: 76,549,452 (GRCm39)	Y31742D	probably benign	Het
Ttn	G	T	2: 76,617,595 (GRCm39)	P16292Q	probably damaging	Het
Ubr5	A	G	15: 38,002,503 (GRCm39)	V1510A		Het
Vac14	A	G	8: 111,379,869 (GRCm39)	D389G	probably benign	Het
Vwa8	A	G	14: 79,324,150 (GRCm39)	D1151G	probably benign	Het
Zfp608	T	C	18: 55,032,266 (GRCm39)	N558S	probably damaging	Het

Other mutations in Traf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Traf4	APN	11	78,056,226 (GRCm39)	missense	possibly damaging	0.93
IGL01354:Traf4	APN	11	78,056,226 (GRCm39)	missense	possibly damaging	0.93
IGL01361:Traf4	APN	11	78,056,226 (GRCm39)	missense	possibly damaging	0.93
IGL01375:Traf4	APN	11	78,050,908 (GRCm39)	missense	probably benign	0.00
IGL01991:Traf4	APN	11	78,050,872 (GRCm39)	missense	possibly damaging	0.87
IGL02243:Traf4	APN	11	78,051,343 (GRCm39)	missense	probably benign	0.00
IGL02800:Traf4	APN	11	78,051,061 (GRCm39)	missense	possibly damaging	0.67
IGL02883:Traf4	APN	11	78,052,447 (GRCm39)	missense	possibly damaging	0.72
PIT4453001:Traf4	UTSW	11	78,052,360 (GRCm39)	missense	probably benign
R2104:Traf4	UTSW	11	78,050,840 (GRCm39)	missense	probably damaging	0.99
R2199:Traf4	UTSW	11	78,050,806 (GRCm39)	missense	probably damaging	1.00
R2298:Traf4	UTSW	11	78,051,677 (GRCm39)	missense	probably benign	0.08
R2351:Traf4	UTSW	11	78,051,002 (GRCm39)	missense	probably damaging	1.00
R4547:Traf4	UTSW	11	78,051,863 (GRCm39)	missense	possibly damaging	0.85
R4854:Traf4	UTSW	11	78,052,346 (GRCm39)	nonsense	probably null
R6905:Traf4	UTSW	11	78,051,268 (GRCm39)	missense	probably benign	0.03
R6907:Traf4	UTSW	11	78,051,268 (GRCm39)	missense	probably benign	0.03
R7384:Traf4	UTSW	11	78,051,617 (GRCm39)	critical splice donor site	probably null
R9205:Traf4	UTSW	11	78,051,927 (GRCm39)	missense	probably benign	0.06
R9593:Traf4	UTSW	11	78,056,253 (GRCm39)	missense	possibly damaging	0.92
R9790:Traf4	UTSW	11	78,050,979 (GRCm39)	missense	probably damaging	1.00
R9791:Traf4	UTSW	11	78,050,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCACAGACTACAGGTCAGC -3'
(R):5'- GCTTCAATGTAGTCCCCTGC -3'

Sequencing Primer
(F):5'- TACAGGTCAGCAAGGGCCTC -3'
(R):5'- AATGTAGTCCCCTGCCCTAATCG -3'

Posted On

2021-11-19