Mutagenetix > Incidental Mutation

Incidental Mutation 'R4576:Traf3ip2'

342482

Institutional Source

Beutler Lab

Gene Symbol

Traf3ip2

Ensembl Gene

ENSMUSG00000019842

Gene Name

TRAF3 interacting protein 2

Synonyms

Act1

MMRRC Submission

041799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39488930-39531303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39510650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 308 (N308D)

Ref Sequence

ENSEMBL: ENSMUSP00000019987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019987]

AlphaFold

Q8N7N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000019987
AA Change: N308D

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: N308D

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
low complexity region	164	179	N/A	INTRINSIC
Pfam:SEFIR	391	533	1.2e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151921

Meta Mutation Damage Score

0.1162

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for one null allele exhibit splenomegaly, lymphadenopathy, increased number of B cells, defective IL-17 signaling, and increased immunoglobulin levels (including auto-antibodies) whereas mice homozygous for another null allele lack these features except the defect in IL-17 signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,623,979 (GRCm39)	D160V	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,417,147 (GRCm39)	D510G	probably benign	Het
Atp8a1	T	C	5: 67,973,158 (GRCm39)		probably benign	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
C7	A	G	15: 5,032,238 (GRCm39)	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,325 (GRCm39)	V404A	possibly damaging	Het
Cfap54	C	T	10: 92,879,090 (GRCm39)		probably null	Het
Chml	G	T	1: 175,514,506 (GRCm39)	Q129K	probably damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cirbp	A	G	10: 80,006,075 (GRCm39)	K84E	probably damaging	Het
Cln6	G	T	9: 62,746,231 (GRCm39)	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,297 (GRCm39)	M801T	probably benign	Het
Dapk1	A	T	13: 60,869,636 (GRCm39)	M293L	probably benign	Het
Ddx11	A	G	17: 66,457,721 (GRCm39)	K869E	probably damaging	Het
Ddx17	A	T	15: 79,425,347 (GRCm39)	M108K	probably benign	Het
Dnaaf5	C	A	5: 139,171,394 (GRCm39)	A557D	probably damaging	Het
Ecpas	A	T	4: 58,834,708 (GRCm39)		probably benign	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Enah	G	A	1: 181,747,128 (GRCm39)	S298L	possibly damaging	Het
Exoc7	T	C	11: 116,180,009 (GRCm39)	*685W	probably null	Het
Fgfbp1	C	T	5: 44,136,806 (GRCm39)	R162H	probably benign	Het
Foxj3	A	G	4: 119,478,860 (GRCm39)	S439G	unknown	Het
Fzd9	A	G	5: 135,279,166 (GRCm39)	S240P	probably damaging	Het
Gin1	A	G	1: 97,720,064 (GRCm39)	D442G	probably damaging	Het
Gm10804	C	T	2: 93,299,014 (GRCm39)		noncoding transcript	Het
Grhl3	G	T	4: 135,288,562 (GRCm39)	T41K	probably damaging	Het
H6pd	A	T	4: 150,078,933 (GRCm39)	D243E	probably damaging	Het
Heatr6	T	A	11: 83,655,826 (GRCm39)	S306T	probably benign	Het
Hkdc1	T	C	10: 62,221,622 (GRCm39)	D812G	possibly damaging	Het
Hmcn1	G	T	1: 150,610,238 (GRCm39)	T1477K	probably benign	Het
Ift80	A	G	3: 68,857,863 (GRCm39)	S261P	possibly damaging	Het
Kcnu1	A	T	8: 26,380,048 (GRCm39)	D424V	probably benign	Het
Kctd1	A	G	18: 15,140,757 (GRCm39)	S658P	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,084,690 (GRCm39)		noncoding transcript	Het
Lpxn	T	C	19: 12,810,654 (GRCm39)	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,376,057 (GRCm39)		probably benign	Het
Maml3	G	A	3: 51,763,927 (GRCm39)	Q346*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mlc1	G	A	15: 88,858,740 (GRCm39)	T136M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Pcdhga9	A	C	18: 37,870,881 (GRCm39)	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,661,565 (GRCm39)	E657D	probably damaging	Het
Pknox2	A	G	9: 36,834,844 (GRCm39)		probably benign	Het
Plcb3	C	T	19: 6,936,415 (GRCm39)		probably benign	Het
Plxnd1	G	A	6: 115,945,005 (GRCm39)	A99V	probably benign	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Pum3	G	A	19: 27,393,308 (GRCm39)	T389M	probably benign	Het
Pxdn	A	T	12: 30,061,922 (GRCm39)	T1165S	probably benign	Het
Rasgrf2	T	C	13: 92,044,529 (GRCm39)	D925G	possibly damaging	Het
Samhd1	A	T	2: 156,943,670 (GRCm39)	C615S	probably damaging	Het
Sec16a	A	T	2: 26,321,131 (GRCm39)	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,916,422 (GRCm39)		noncoding transcript	Het
Slitrk6	C	A	14: 110,987,602 (GRCm39)	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,864,675 (GRCm39)	H608N	probably damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Tacc3	T	A	5: 33,818,841 (GRCm39)		probably benign	Het
Tango2	A	T	16: 18,119,392 (GRCm39)	D146E	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,634,713 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,792,468 (GRCm39)	D248G	possibly damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,852,499 (GRCm39)	Q521*	probably null	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Ttc16	A	T	2: 32,660,071 (GRCm39)	F246I	probably benign	Het
Unc79	T	C	12: 102,968,062 (GRCm39)		probably benign	Het
Vmn1r74	A	G	7: 11,580,696 (GRCm39)		probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,168,579 (GRCm39)	R896H	unknown	Het
Zfp941	T	A	7: 140,391,503 (GRCm39)	K619*	probably null	Het
Zfp970	A	T	2: 177,167,473 (GRCm39)	H349L	probably damaging	Het

Other mutations in Traf3ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Traf3ip2	APN	10	39,510,656 (GRCm39)	missense	probably benign
IGL02097:Traf3ip2	APN	10	39,530,475 (GRCm39)	missense	probably damaging	0.99
IGL02530:Traf3ip2	APN	10	39,522,902 (GRCm39)	missense	possibly damaging	0.80
IGL02957:Traf3ip2	APN	10	39,530,406 (GRCm39)	missense	probably damaging	1.00
IGL03034:Traf3ip2	APN	10	39,502,215 (GRCm39)	missense	probably damaging	1.00
IGL03123:Traf3ip2	APN	10	39,515,218 (GRCm39)	missense	possibly damaging	0.87
IGL03386:Traf3ip2	APN	10	39,521,704 (GRCm39)	missense	probably benign	0.03
R0328:Traf3ip2	UTSW	10	39,510,669 (GRCm39)	missense	probably damaging	0.96
R1282:Traf3ip2	UTSW	10	39,502,401 (GRCm39)	missense	probably damaging	1.00
R1913:Traf3ip2	UTSW	10	39,501,936 (GRCm39)	missense	probably benign	0.00
R2975:Traf3ip2	UTSW	10	39,502,536 (GRCm39)	missense	probably benign	0.00
R4575:Traf3ip2	UTSW	10	39,510,650 (GRCm39)	missense	probably damaging	0.97
R4578:Traf3ip2	UTSW	10	39,510,650 (GRCm39)	missense	probably damaging	0.97
R4670:Traf3ip2	UTSW	10	39,515,256 (GRCm39)	missense	possibly damaging	0.76
R4680:Traf3ip2	UTSW	10	39,515,256 (GRCm39)	missense	possibly damaging	0.76
R4681:Traf3ip2	UTSW	10	39,515,256 (GRCm39)	missense	possibly damaging	0.76
R4710:Traf3ip2	UTSW	10	39,515,256 (GRCm39)	missense	possibly damaging	0.76
R4742:Traf3ip2	UTSW	10	39,515,256 (GRCm39)	missense	possibly damaging	0.76
R4760:Traf3ip2	UTSW	10	39,521,735 (GRCm39)	missense	probably damaging	1.00
R4934:Traf3ip2	UTSW	10	39,502,096 (GRCm39)	missense	probably damaging	1.00
R5079:Traf3ip2	UTSW	10	39,502,473 (GRCm39)	missense	probably damaging	1.00
R5959:Traf3ip2	UTSW	10	39,517,337 (GRCm39)	missense	probably benign	0.13
R6421:Traf3ip2	UTSW	10	39,515,400 (GRCm39)	splice site	probably null
R6462:Traf3ip2	UTSW	10	39,515,243 (GRCm39)	missense	probably benign	0.00
R7156:Traf3ip2	UTSW	10	39,502,173 (GRCm39)	missense	possibly damaging	0.61
R7840:Traf3ip2	UTSW	10	39,502,451 (GRCm39)	missense	probably damaging	0.99
R9489:Traf3ip2	UTSW	10	39,521,772 (GRCm39)	missense	probably benign	0.08
R9605:Traf3ip2	UTSW	10	39,521,772 (GRCm39)	missense	probably benign	0.08
X0020:Traf3ip2	UTSW	10	39,530,515 (GRCm39)	missense	probably damaging	0.97
Z1177:Traf3ip2	UTSW	10	39,502,529 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTTTCGCATGAAGTAGCTGAGG -3'
(R):5'- TGCTCCAACCTGAACAGTCC -3'

Sequencing Primer
(F):5'- CATGAAGTAGCTGAGGACCACC -3'
(R):5'- ATACTGAGCATCTCACTGTGG -3'

Posted On

2015-09-24