Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Traf3ip2'

356817

Institutional Source

Beutler Lab

Gene Symbol

Traf3ip2

Ensembl Gene

ENSMUSG00000019842

Gene Name

TRAF3 interacting protein 2

Synonyms

Act1

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

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

Stock #

R4760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39488930-39531303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39521735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 431 (I431T)

Ref Sequence

ENSEMBL: ENSMUSP00000019987 (fasta)

Gene Model

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

AlphaFold

Q8N7N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000019987
AA Change: I431T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019987
Gene: ENSMUSG00000019842
AA Change: I431T

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: ENSMUST00000129693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139891

Meta Mutation Damage Score

0.2779

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	A	G	6: 60,379,086 (GRCm39)		noncoding transcript	Het
Abcc2	A	T	19: 43,798,920 (GRCm39)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,443,312 (GRCm39)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,633,748 (GRCm39)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,615,566 (GRCm39)	L317F	probably damaging	Het
Amn1	T	C	6: 149,086,611 (GRCm39)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,181,593 (GRCm39)	V223A	probably damaging	Het
Best3	A	T	10: 116,860,699 (GRCm39)	H653L	probably benign	Het
Btnl2	C	A	17: 34,582,169 (GRCm39)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,366,867 (GRCm39)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,405,060 (GRCm39)	D698V	probably damaging	Het
Cd33	T	C	7: 43,178,919 (GRCm39)	T307A	probably benign	Het
Cdk8	C	T	5: 146,229,476 (GRCm39)	S230L	probably benign	Het
Cfap69	C	T	5: 5,696,939 (GRCm39)	C119Y	probably damaging	Het
Chat	T	C	14: 32,175,694 (GRCm39)	N122S	probably benign	Het
Col20a1	A	T	2: 180,626,196 (GRCm39)		probably benign	Het
Cyp2j9	A	T	4: 96,457,028 (GRCm39)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,589,342 (GRCm39)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,823,380 (GRCm39)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 137,811,629 (GRCm39)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,520,087 (GRCm39)	V438M	probably damaging	Het
Eva1c	G	A	16: 90,701,138 (GRCm39)	D258N	probably benign	Het
Fastkd2	A	G	1: 63,785,045 (GRCm39)	H477R	probably benign	Het
Fga	T	G	3: 82,938,821 (GRCm39)	S399A	probably benign	Het
Fmo4	T	A	1: 162,637,396 (GRCm39)	E32V	probably damaging	Het
Gm7204	T	A	16: 48,039,051 (GRCm39)		noncoding transcript	Het
Gpi-ps	G	A	8: 5,690,473 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,286,336 (GRCm39)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,676,349 (GRCm39)	T63A	probably benign	Het
Igf2r	A	G	17: 12,922,352 (GRCm39)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 114,987,667 (GRCm39)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,768,446 (GRCm39)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Ipo5	T	C	14: 121,179,054 (GRCm39)	V779A	probably benign	Het
Itpr1	C	T	6: 108,326,593 (GRCm39)	T105I	probably benign	Het
Kalrn	T	C	16: 34,018,857 (GRCm39)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,054,431 (GRCm39)		probably null	Het
Kics2	T	C	10: 121,575,912 (GRCm39)	V11A	probably damaging	Het
L3hypdh	T	C	12: 72,124,016 (GRCm39)	I281V	probably benign	Het
Lins1	T	G	7: 66,364,435 (GRCm39)		probably benign	Het
Map4k5	T	A	12: 69,871,372 (GRCm39)	I517L	possibly damaging	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mlkl	C	G	8: 112,046,348 (GRCm39)		probably null	Het
Mllt1	A	G	17: 57,209,630 (GRCm39)	M160T	probably benign	Het
Mmp15	G	A	8: 96,094,824 (GRCm39)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,868,537 (GRCm39)	T23N	probably benign	Het
Nop53	C	A	7: 15,676,812 (GRCm39)	K100N	probably benign	Het
Nrg1	C	A	8: 32,408,228 (GRCm39)	E2*	probably null	Het
Or52u1	T	A	7: 104,237,696 (GRCm39)	H228Q	probably benign	Het
Pank4	A	G	4: 155,059,091 (GRCm39)	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,544,995 (GRCm39)	W24R	probably benign	Het
Pcm1	C	T	8: 41,740,775 (GRCm39)	T968I	probably damaging	Het
Pkib	G	T	10: 57,584,246 (GRCm39)	M19I	probably benign	Het
Ppy	A	G	11: 101,991,345 (GRCm39)		probably null	Het
Pramel21	G	A	4: 143,343,801 (GRCm39)	R367K	probably benign	Het
Prdx3	A	C	19: 60,861,621 (GRCm39)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,276,073 (GRCm39)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,776 (GRCm39)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,188,669 (GRCm39)	L1371Q	probably benign	Het
Rbm12	A	G	2: 155,939,048 (GRCm39)	L408P	probably damaging	Het
Rdx	T	C	9: 51,977,174 (GRCm39)	I141T	probably benign	Het
Reep1	T	A	6: 71,684,985 (GRCm39)	V11E	possibly damaging	Het
Relch	T	A	1: 105,649,030 (GRCm39)	M723K	probably benign	Het
Sall4	A	G	2: 168,592,347 (GRCm39)	S936P	probably damaging	Het
Serac1	A	G	17: 6,102,065 (GRCm39)	M403T	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,435,549 (GRCm39)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,405,134 (GRCm39)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,801,076 (GRCm39)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,849,459 (GRCm39)	P890T	probably damaging	Het
Sync	A	G	4: 129,187,232 (GRCm39)	Q88R	probably benign	Het
Tdrp	A	G	8: 14,024,527 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,565,168 (GRCm39)	C1170F	probably damaging	Het
Tnks	A	T	8: 35,318,937 (GRCm39)	D781E	probably benign	Het
Tnp2	T	A	16: 10,606,207 (GRCm39)	T87S	possibly damaging	Het
Tpp2	T	C	1: 44,010,875 (GRCm39)	V554A	probably benign	Het
Trav9d-4	A	T	14: 53,221,258 (GRCm39)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,187,276 (GRCm39)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,547,567 (GRCm39)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,808,496 (GRCm39)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,885,234 (GRCm39)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,818,864 (GRCm39)	C148R	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
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
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
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'- TGTAGCTGCAGACACATTTTG -3'
(R):5'- AAGAGAGGCTTTGTCCAGGC -3'

Sequencing Primer
(F):5'- GTGAGCATATTTCACGAACCTC -3'
(R):5'- AGGCTTCCTCAGACTCAGACTTG -3'

Posted On

2015-11-11