Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Traf4'

362871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Traf4

Ensembl Gene

ENSMUSG00000017386

Gene Name

TNF receptor associated factor 4

Synonyms

CART1, A530032M13Rik, msp2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

78158499-78165589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78161621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 66 (I66N)

Ref Sequence

ENSEMBL: ENSMUSP00000017530 (fasta)

Gene Model

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

AlphaFold

Q61382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017530
AA Change: I66N

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386
AA Change: I66N

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

noncoding transcript
Transcript: ENSMUST00000125528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	Het

Other mutations in Traf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Traf4	APN	11	78165400	missense	possibly damaging	0.93
IGL01354:Traf4	APN	11	78165400	missense	possibly damaging	0.93
IGL01361:Traf4	APN	11	78165400	missense	possibly damaging	0.93
IGL01375:Traf4	APN	11	78160082	missense	probably benign	0.00
IGL01991:Traf4	APN	11	78160046	missense	possibly damaging	0.87
IGL02243:Traf4	APN	11	78160517	missense	probably benign	0.00
IGL02800:Traf4	APN	11	78160235	missense	possibly damaging	0.67
PIT4453001:Traf4	UTSW	11	78161534	missense	probably benign
R2104:Traf4	UTSW	11	78160014	missense	probably damaging	0.99
R2199:Traf4	UTSW	11	78159980	missense	probably damaging	1.00
R2298:Traf4	UTSW	11	78160851	missense	probably benign	0.08
R2351:Traf4	UTSW	11	78160176	missense	probably damaging	1.00
R4547:Traf4	UTSW	11	78161037	missense	possibly damaging	0.85
R4854:Traf4	UTSW	11	78161520	nonsense	probably null
R6905:Traf4	UTSW	11	78160442	missense	probably benign	0.03
R6907:Traf4	UTSW	11	78160442	missense	probably benign	0.03
R7384:Traf4	UTSW	11	78160791	critical splice donor site	probably null
R9051:Traf4	UTSW	11	78161179	missense	probably damaging	1.00
R9205:Traf4	UTSW	11	78161101	missense	probably benign	0.06
R9593:Traf4	UTSW	11	78165427	missense	possibly damaging	0.92
R9790:Traf4	UTSW	11	78160153	missense	probably damaging	1.00
R9791:Traf4	UTSW	11	78160153	missense	probably damaging	1.00

Posted On

2015-12-18