Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Traf3ip2'

342411

Institutional Source

Beutler Lab

Gene Symbol

Traf3ip2

Ensembl Gene

ENSMUSG00000019842

Gene Name

TRAF3 interacting protein 2

Synonyms

Act1

MMRRC Submission

041798-MU

Accession Numbers

Essential gene?

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

Stock #

R4575 (G1)

Quality Score

225

Status

Not 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: 97.2%
20x: 95.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 130,964,325 (GRCm39)	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,837,527 (GRCm39)		noncoding transcript	Het
Adgrf3	T	A	5: 30,407,255 (GRCm39)	M224L	probably benign	Het
Ago3	T	C	4: 126,240,475 (GRCm39)	H129R	probably benign	Het
Aoc1l1	C	T	6: 48,954,502 (GRCm39)	Q547*	probably null	Het
Asb10	C	T	5: 24,745,052 (GRCm39)	R99H	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bltp3a	T	C	17: 28,106,477 (GRCm39)	V1001A	probably benign	Het
Ccdc96	T	C	5: 36,643,419 (GRCm39)	V475A	possibly damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clec4b2	T	A	6: 123,150,639 (GRCm39)	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,722,805 (GRCm39)	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,256,133 (GRCm39)	A167E	possibly damaging	Het
Dpysl3	T	C	18: 43,475,312 (GRCm39)	K382R	probably damaging	Het
Dscam	A	G	16: 96,626,823 (GRCm39)	I362T	possibly damaging	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
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,254,896 (GRCm39)	Q507R	probably damaging	Het
Frem3	A	G	8: 81,342,704 (GRCm39)	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Gabrr1	C	T	4: 33,158,175 (GRCm39)	T266I	possibly damaging	Het
Gm11563	G	A	11: 99,549,275 (GRCm39)	P160S	unknown	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Haus8	A	G	8: 71,715,736 (GRCm39)	V34A	probably damaging	Het
Hgf	T	C	5: 16,777,599 (GRCm39)	Y199H	probably benign	Het
Ide	G	A	19: 37,249,604 (GRCm39)	P916L	unknown	Het
Igsf10	G	T	3: 59,237,521 (GRCm39)	H887N	probably benign	Het
Iigp1	A	T	18: 60,523,218 (GRCm39)	H112L	probably benign	Het
Impg2	A	G	16: 56,082,095 (GRCm39)	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,420,653 (GRCm39)	D91A	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
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Krt1c	T	G	15: 101,722,921 (GRCm39)	D359A	probably damaging	Het
Krt35	A	T	11: 99,986,725 (GRCm39)	N96K	probably benign	Het
Lnx1	T	C	5: 74,846,204 (GRCm39)	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299 (GRCm39)	I473V	probably benign	Het
Obscn	T	C	11: 59,013,598 (GRCm39)	D1108G	probably damaging	Het
Or52m2	A	T	7: 102,263,976 (GRCm39)	C73*	probably null	Het
Or7g12	C	A	9: 18,900,001 (GRCm39)	S239*	probably null	Het
Otop1	T	C	5: 38,457,065 (GRCm39)	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Prr14l	T	C	5: 32,950,988 (GRCm39)	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rfc4	T	A	16: 22,933,179 (GRCm39)		probably benign	Het
Rpn2	C	A	2: 157,137,244 (GRCm39)	A209E	probably damaging	Het
Sf1	T	C	19: 6,425,943 (GRCm39)		probably benign	Het
Sft2d1rt	T	C	11: 45,942,679 (GRCm39)	D148G	probably damaging	Het
Skint5	T	A	4: 113,524,390 (GRCm39)	S864C	unknown	Het
Slc2a10	C	G	2: 165,358,241 (GRCm39)	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,076,986 (GRCm39)	I1673N	probably benign	Het
Sri	G	T	5: 8,113,693 (GRCm39)	G152W	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
Vmn2r125	T	A	4: 156,702,272 (GRCm39)	D19E	probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly 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
R4576: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'- AGTTGTTCAGCGAGCTTGC -3'
(R):5'- ACTGAGCATCTCACTGTGGC -3'

Sequencing Primer
(F):5'- CATGTCTTTCGCATGAAGTAGC -3'
(R):5'- ATCTCACTGTGGCTGCGC -3'

Posted On

2015-09-24