Mutagenetix > Incidental Mutations

Incidental Mutation 'R0110:Traf3ip3'

20346

Institutional Source

Beutler Lab

Gene Symbol

Traf3ip3

Ensembl Gene

ENSMUSG00000037318

Gene Name

TRAF3 interacting protein 3

Synonyms

6030423D04Rik

MMRRC Submission

038396-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0110 (G1)

Quality Score

209

Status

Validated (trace)

Chromosome

Chromosomal Location

193175453-193201703 bp(-) (GRCm38)

Type of Mutation

unclassified (1006 bp from exon)

DNA Base Change (assembly)

T to A at 193178231 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000161235] [ENSMUST00000178744] [ENSMUST00000191613] [ENSMUST00000192020] [ENSMUST00000192189] [ENSMUST00000193307] [ENSMUST00000194278]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043550
AA Change: E461V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: E461V

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: ENSMUST00000110831

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160077

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	163	6.7e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160332

Predicted Effect

probably benign
Transcript: ENSMUST00000160822

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	15	263	2.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161235

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178744

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191613

SMART Domains

Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	70	7.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192020
AA Change: E461V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: E461V

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: ENSMUST00000192189

Predicted Effect

probably benign
Transcript: ENSMUST00000193307

SMART Domains

Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	84	3.4e-18	PFAM

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

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,853,506		probably benign	Het
4933408B17Rik	A	T	18: 34,596,151	D42E	probably damaging	Het
Abcg3	A	G	5: 104,977,616	I67T	probably damaging	Het
Adam10	T	A	9: 70,748,248	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232	R5627*	probably null	Het
AI606181	A	C	19: 41,593,731	K113N	unknown	Het
Alms1	A	T	6: 85,620,369	R1195*	probably null	Het
Ankrd11	T	C	8: 122,892,175	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,542,240	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,127,715	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,275,891	Y438C	probably damaging	Het
Ccdc110	T	A	8: 45,935,157	N50K	probably benign	Het
Cdhr1	T	C	14: 37,080,676	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,827,005	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351	Y676N	probably damaging	Het
Cntln	C	T	4: 85,096,757	T1095I	probably damaging	Het
Cog2	T	C	8: 124,529,058		probably null	Het
Col11a1	A	T	3: 114,105,456		probably benign	Het
Cpe	T	A	8: 64,611,467	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,569,080	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972		probably null	Het
Dnah12	A	G	14: 26,798,899	R1892G	probably damaging	Het
Dock4	A	G	12: 40,621,312		probably benign	Het
Dync1h1	C	A	12: 110,639,944	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,776,781	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763	T22A	probably benign	Het
Fam227b	T	A	2: 126,100,921	S319C	probably damaging	Het
Fam83a	C	A	15: 58,009,926	Q384K	probably benign	Het
Fam83b	G	T	9: 76,492,826	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 94,009,497	P388L	probably benign	Het
Ggn	C	T	7: 29,171,296	P47S	probably damaging	Het
Gli3	T	G	13: 15,724,785	L919R	probably damaging	Het
Gm5134	C	A	10: 75,974,245	T120N	probably benign	Het
Gm5415	T	A	1: 32,545,875	N318I	possibly damaging	Het
Gm8251	C	A	1: 44,059,224	V905F	probably benign	Het
Gmip	C	T	8: 69,815,609		probably benign	Het
Gpr39	C	T	1: 125,677,500	T55M	probably damaging	Het
Grk4	A	G	5: 34,716,213	T208A	probably damaging	Het
Gsdme	C	A	6: 50,246,127		probably benign	Het
Gucy2e	T	C	11: 69,235,576	D326G	probably benign	Het
Hadhb	T	C	5: 30,169,485		probably benign	Het
Hectd4	T	A	5: 121,281,896	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,305,673	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 22,671,635	C412*	probably null	Het
Itpa	A	T	2: 130,679,418		probably benign	Het
Klhl10	A	G	11: 100,456,932	T605A	probably benign	Het
Krt74	T	C	15: 101,763,316		noncoding transcript	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lap3	T	C	5: 45,495,290		probably benign	Het
Lrrc10	T	A	10: 117,045,790	L123Q	probably damaging	Het
Map3k6	T	C	4: 133,243,794	L273P	probably damaging	Het
Mbl1	A	G	14: 41,158,749	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337	D233G	probably damaging	Het
Mdga2	T	C	12: 66,470,926	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619	N3524S	probably benign	Het
Mrc1	T	A	2: 14,238,542		probably benign	Het
Msto1	A	G	3: 88,911,541	L269P	probably benign	Het
Mtcl1	C	T	17: 66,358,114	E1149K	possibly damaging	Het
Naca	C	T	10: 128,044,790	A1897V	probably benign	Het
Ncapg	T	C	5: 45,693,147		probably benign	Het
Neb	A	T	2: 52,290,743		probably benign	Het
Olfr467	T	C	7: 107,814,688	Y35H	probably damaging	Het
Olfr870	T	C	9: 20,171,265	Y102C	probably benign	Het
Olfr944	G	A	9: 39,217,728	V124I	possibly damaging	Het
Parp2	T	A	14: 50,819,673	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,657,831	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,647	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,607,982	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,734,217	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,978,801		probably benign	Het
Proc	G	A	18: 32,125,118	T258I	probably benign	Het
Prom2	T	G	2: 127,531,113	S679R	possibly damaging	Het
Psen2	T	C	1: 180,238,914	T153A	probably damaging	Het
Rem2	T	C	14: 54,476,297		probably benign	Het
Rin2	A	G	2: 145,861,033	K550E	probably benign	Het
Rtn4	T	A	11: 29,733,849		probably benign	Het
Ssh1	A	T	5: 113,946,705	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548		probably null	Het
Stam2	A	T	2: 52,719,986		probably benign	Het
Syne1	A	G	10: 5,367,600	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Taf6l	G	T	19: 8,778,521	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,847,332	V64A	probably benign	Het
Tnnc1	A	G	14: 31,211,408	D149G	probably damaging	Het
Tpp2	T	A	1: 43,978,504	V756E	probably benign	Het
Tpp2	A	G	1: 43,999,693	D1133G	probably damaging	Het
Tsen15	A	G	1: 152,371,797	V148A	probably damaging	Het
Ttn	T	A	2: 76,864,328		probably benign	Het
Ube2u	A	G	4: 100,486,673	I90V	probably benign	Het
Unc79	T	A	12: 103,079,070		probably null	Het
Usp47	T	C	7: 112,056,580	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,018,111		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp423	A	G	8: 87,782,259	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,919,733	Q318L	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
IGL02432:Traf3ip3	APN	1	193184576	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATTGCCCCTAGAAGGGTTCTC -3'
(R):5'- TTCTACTCCATTCAGCGAAGCCAC -3'

Sequencing Primer
(F):5'- AAGGGTTCTCTGCCCCAC -3'
(R):5'- TCAGCGAAGCCACAGACAC -3'

Posted On

2013-04-11