Mutagenetix > Incidental Mutation

Incidental Mutation 'R4578:Traf3ip2'

343428

Institutional Source

Beutler Lab

Gene Symbol

Traf3ip2

Ensembl Gene

ENSMUSG00000019842

Gene Name

TRAF3 interacting protein 2

Synonyms

Act1

MMRRC Submission

041800-MU

Accession Numbers

Essential gene?

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

Stock #

R4578 (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: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,537 (GRCm39)	Y440*	probably null	Het
Aldh3b3	A	T	19: 4,014,832 (GRCm39)	T110S	probably benign	Het
Atp2b2	T	C	6: 113,737,672 (GRCm39)	T901A	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bfar	A	T	16: 13,505,307 (GRCm39)	I106F	probably benign	Het
Btbd10	T	G	7: 112,921,959 (GRCm39)	I301L	possibly damaging	Het
Card14	G	A	11: 119,217,567 (GRCm39)	R400H	probably benign	Het
Ccdc80	A	G	16: 44,915,849 (GRCm39)	R202G	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cmtm7	A	C	9: 114,592,351 (GRCm39)	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613 (GRCm39)	W474R	probably damaging	Het
Coq9	T	C	8: 95,580,234 (GRCm39)	V285A	probably benign	Het
Cp	A	G	3: 20,028,052 (GRCm39)	E486G	probably damaging	Het
Crybg3	C	T	16: 59,350,564 (GRCm39)	C892Y	probably damaging	Het
Cttn	A	T	7: 144,008,453 (GRCm39)	F176L	probably damaging	Het
Cytip	T	A	2: 58,050,024 (GRCm39)	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,477,492 (GRCm39)	E634G	possibly damaging	Het
Duox1	A	G	2: 122,164,258 (GRCm39)	E906G	probably benign	Het
Efcab6	A	T	15: 83,817,369 (GRCm39)	S735T	probably benign	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
Ercc5	T	A	1: 44,187,308 (GRCm39)	V29E	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,425,092 (GRCm39)	E524D	probably benign	Het
Gfod2	T	C	8: 106,454,878 (GRCm39)	M1V	probably null	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Gsta4	A	T	9: 78,113,302 (GRCm39)	R127S	probably benign	Het
Hcn2	G	A	10: 79,560,282 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,798,715 (GRCm39)	V2135A	probably damaging	Het
Hoxc6	A	G	15: 102,918,093 (GRCm39)	D19G	probably benign	Het
Hydin	A	T	8: 110,993,971 (GRCm39)	T2S	unknown	Het
Ifna14	A	T	4: 88,489,747 (GRCm39)	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,838,183 (GRCm39)	L14P	unknown	Het
Il17rb	A	G	14: 29,724,356 (GRCm39)	V166A	probably damaging	Het
Iqca1	T	A	1: 90,001,472 (GRCm39)	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,300,994 (GRCm39)	V282L	probably benign	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
Lrfn5	A	G	12: 61,890,763 (GRCm39)	D684G	probably benign	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,200,655 (GRCm39)	Y124C	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh2	T	A	11: 67,064,084 (GRCm39)	V48D	possibly damaging	Het
Nat10	A	G	2: 103,584,417 (GRCm39)	M120T	probably damaging	Het
Nf1	T	C	11: 79,336,585 (GRCm39)	S1065P	probably damaging	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Pced1a	A	C	2: 130,264,596 (GRCm39)	L78R	probably damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Pomgnt2	G	A	9: 121,812,131 (GRCm39)	R217C	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050 (GRCm39)	E285G	probably benign	Het
Sclt1	G	A	3: 41,625,900 (GRCm39)	Q356*	probably null	Het
Scn2b	T	C	9: 45,037,460 (GRCm39)	F169S	possibly damaging	Het
Sfta2	C	T	17: 35,960,775 (GRCm39)		probably benign	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Sspo	A	C	6: 48,440,307 (GRCm39)	D1541A	possibly damaging	Het
Strc	G	A	2: 121,208,484 (GRCm39)	L296F	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Taf6l	C	A	19: 8,761,335 (GRCm39)	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,820,841 (GRCm39)	R617L	probably damaging	Het
Tnrc6a	A	G	7: 122,783,444 (GRCm39)	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,067,100 (GRCm39)	L1714P	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565 (GRCm39)	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Vmn2r52	A	T	7: 9,904,617 (GRCm39)	H407Q	probably damaging	Het
Vps13a	A	T	19: 16,659,474 (GRCm39)	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,242,550 (GRCm39)	M380V	probably benign	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
R4576: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'- TTGTTCAGCGAGCTTGCATG -3'
(R):5'- ATACTGAGCATCTCACTGTGG -3'

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

Posted On

2015-09-24