Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02432:Traf3ip3'

293158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Traf3ip3

Ensembl Gene

ENSMUSG00000037318

Gene Name

TRAF3 interacting protein 3

Synonyms

6030423D04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02432

Quality Score

Status

Chromosome

Chromosomal Location

193175453-193201703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 193184576 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 316 (C316Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000159666] [ENSMUST00000192020] [ENSMUST00000194278]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043550
AA Change: C316Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: C316Y

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
coiled coil region	279	486	N/A	INTRINSIC
transmembrane domain	487	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159666

Predicted Effect

unknown
Transcript: ENSMUST00000160302
AA Change: C18Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162454

Predicted Effect

probably benign
Transcript: ENSMUST00000162480

Predicted Effect

probably damaging
Transcript: ENSMUST00000192020
AA Change: C316Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: C316Y

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
coiled coil region	279	486	N/A	INTRINSIC
transmembrane domain	487	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194278

SMART Domains

Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired single positive thymocyte development and increased gamma-delta T cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,472,561	T399M	probably benign	Het
A830018L16Rik	A	T	1: 11,748,079	N321I	probably damaging	Het
Aimp1	T	C	3: 132,673,977	T135A	probably benign	Het
Ascc3	T	C	10: 50,700,493	M848T	probably damaging	Het
Cry2	T	C	2: 92,413,667	D387G	probably damaging	Het
Daxx	G	A	17: 33,912,337	D413N	probably benign	Het
Gbp6	A	T	5: 105,274,362	V492E	probably benign	Het
Itpr2	T	A	6: 146,325,173	M1358L	probably benign	Het
Med13l	T	A	5: 118,738,400	D880E	possibly damaging	Het
Mmd2	A	T	5: 142,575,339	I47N	probably damaging	Het
Mroh2b	G	A	15: 4,914,186	M401I	probably benign	Het
Nrip1	T	C	16: 76,291,780	K963R	probably benign	Het
Otop2	A	G	11: 115,329,162	H276R	probably damaging	Het
Pxn	T	A	5: 115,545,746	D79E	probably damaging	Het
Rho	G	A	6: 115,932,185	V61I	probably damaging	Het
Rtp1	A	G	16: 23,431,404	Y173C	probably damaging	Het
Slc6a17	T	C	3: 107,493,177	D212G	possibly damaging	Het
Stpg1	A	G	4: 135,508,010	E54G	probably damaging	Het
Tas2r119	A	G	15: 32,177,707	T140A	probably benign	Het
Ttc28	G	A	5: 111,223,235	A517T	probably damaging	Het
Vmn1r30	T	C	6: 58,435,670	N59S	probably benign	Het
Vmn2r4	C	T	3: 64,406,400	V387M	probably benign	Het

Other mutations in Traf3ip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Traf3ip3	APN	1	193194820	intron	probably benign
IGL00663:Traf3ip3	APN	1	193187138	missense	probably damaging	1.00
IGL01125:Traf3ip3	APN	1	193184464	splice site	probably null
IGL01308:Traf3ip3	APN	1	193184891	missense	probably damaging	1.00
IGL01608:Traf3ip3	APN	1	193187110	missense	probably benign	0.00
IGL02225:Traf3ip3	APN	1	193195100	missense	probably benign	0.03
IGL03102:Traf3ip3	APN	1	193195077	missense	probably damaging	1.00
IGL03179:Traf3ip3	APN	1	193194368	missense	probably damaging	1.00
IGL02988:Traf3ip3	UTSW	1	193194874	unclassified	probably null
R0110:Traf3ip3	UTSW	1	193178231	unclassified	probably null
R0469:Traf3ip3	UTSW	1	193178231	unclassified	probably null
R0510:Traf3ip3	UTSW	1	193178231	unclassified	probably null
R0529:Traf3ip3	UTSW	1	193194811	intron	probably benign
R1165:Traf3ip3	UTSW	1	193184478	missense	probably damaging	0.99
R1559:Traf3ip3	UTSW	1	193178291	missense	probably damaging	0.99
R1729:Traf3ip3	UTSW	1	193181893	missense	probably benign	0.01
R1896:Traf3ip3	UTSW	1	193175734	missense	probably benign
R4085:Traf3ip3	UTSW	1	193181320	missense	probably damaging	0.98
R4086:Traf3ip3	UTSW	1	193181320	missense	probably damaging	0.98
R4087:Traf3ip3	UTSW	1	193181320	missense	probably damaging	0.98
R4088:Traf3ip3	UTSW	1	193181320	missense	probably damaging	0.98
R4090:Traf3ip3	UTSW	1	193181320	missense	probably damaging	0.98
R4258:Traf3ip3	UTSW	1	193197946	missense	probably damaging	1.00
R4817:Traf3ip3	UTSW	1	193184829	missense	probably damaging	1.00
R5299:Traf3ip3	UTSW	1	193178175	nonsense	probably null
R5906:Traf3ip3	UTSW	1	193198006	missense	possibly damaging	0.55
R6268:Traf3ip3	UTSW	1	193198036	start gained	probably benign
R6374:Traf3ip3	UTSW	1	193182010	missense	possibly damaging	0.88

Posted On

2015-04-16