Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Traf3ip3'

91860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Traf3ip3

Ensembl Gene

ENSMUSG00000037318

Gene Name

TRAF3 interacting protein 3

Synonyms

6030423D04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

192857812-192883854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 192869418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

Ref Sequence

ENSEMBL: ENSMUSP00000141698 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043550
AA Change: T256A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: T256A

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

unknown
Transcript: ENSMUST00000159666
AA Change: T11A

Predicted Effect

probably benign
Transcript: ENSMUST00000160302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162454

Predicted Effect

unknown
Transcript: ENSMUST00000162480
AA Change: T25A

Predicted Effect

probably benign
Transcript: ENSMUST00000192020
AA Change: T256A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: T256A

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in Traf3ip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Traf3ip3	APN	1	192,877,128 (GRCm39)	intron	probably benign
IGL00663:Traf3ip3	APN	1	192,869,446 (GRCm39)	missense	probably damaging	1.00
IGL01125:Traf3ip3	APN	1	192,866,772 (GRCm39)	splice site	probably null
IGL01308:Traf3ip3	APN	1	192,867,199 (GRCm39)	missense	probably damaging	1.00
IGL02225:Traf3ip3	APN	1	192,877,408 (GRCm39)	missense	probably benign	0.03
IGL02432:Traf3ip3	APN	1	192,866,884 (GRCm39)	missense	probably damaging	1.00
IGL03102:Traf3ip3	APN	1	192,877,385 (GRCm39)	missense	probably damaging	1.00
IGL03179:Traf3ip3	APN	1	192,876,676 (GRCm39)	missense	probably damaging	1.00
Flare	UTSW	1	192,877,119 (GRCm39)	intron	probably benign
sunspot	UTSW	1	192,876,823 (GRCm39)	splice site	probably null
IGL02988:Traf3ip3	UTSW	1	192,877,182 (GRCm39)	splice site	probably null
R0110:Traf3ip3	UTSW	1	192,860,539 (GRCm39)	splice site	probably null
R0469:Traf3ip3	UTSW	1	192,860,539 (GRCm39)	splice site	probably null
R0510:Traf3ip3	UTSW	1	192,860,539 (GRCm39)	splice site	probably null
R0529:Traf3ip3	UTSW	1	192,877,119 (GRCm39)	intron	probably benign
R1165:Traf3ip3	UTSW	1	192,866,786 (GRCm39)	missense	probably damaging	0.99
R1559:Traf3ip3	UTSW	1	192,860,599 (GRCm39)	missense	probably damaging	0.99
R1729:Traf3ip3	UTSW	1	192,864,201 (GRCm39)	missense	probably benign	0.01
R1896:Traf3ip3	UTSW	1	192,858,042 (GRCm39)	missense	probably benign
R4085:Traf3ip3	UTSW	1	192,863,628 (GRCm39)	missense	probably damaging	0.98
R4086:Traf3ip3	UTSW	1	192,863,628 (GRCm39)	missense	probably damaging	0.98
R4087:Traf3ip3	UTSW	1	192,863,628 (GRCm39)	missense	probably damaging	0.98
R4088:Traf3ip3	UTSW	1	192,863,628 (GRCm39)	missense	probably damaging	0.98
R4090:Traf3ip3	UTSW	1	192,863,628 (GRCm39)	missense	probably damaging	0.98
R4258:Traf3ip3	UTSW	1	192,880,254 (GRCm39)	missense	probably damaging	1.00
R4817:Traf3ip3	UTSW	1	192,867,137 (GRCm39)	missense	probably damaging	1.00
R5299:Traf3ip3	UTSW	1	192,860,483 (GRCm39)	nonsense	probably null
R5906:Traf3ip3	UTSW	1	192,880,314 (GRCm39)	missense	possibly damaging	0.55
R6268:Traf3ip3	UTSW	1	192,880,344 (GRCm39)	start gained	probably benign
R6374:Traf3ip3	UTSW	1	192,864,318 (GRCm39)	missense	possibly damaging	0.88
R8155:Traf3ip3	UTSW	1	192,860,524 (GRCm39)	missense	probably damaging	1.00
R8527:Traf3ip3	UTSW	1	192,876,851 (GRCm39)	missense	probably damaging	1.00
R8536:Traf3ip3	UTSW	1	192,876,823 (GRCm39)	splice site	probably null
R8542:Traf3ip3	UTSW	1	192,876,851 (GRCm39)	missense	probably damaging	1.00
R8946:Traf3ip3	UTSW	1	192,869,415 (GRCm39)	missense	probably damaging	1.00
R9005:Traf3ip3	UTSW	1	192,864,285 (GRCm39)	missense	probably benign

Posted On

2013-12-09