Mutagenetix > Incidental Mutations

Incidental Mutation 'R1366:Tnfaip2'

156047

Institutional Source

Beutler Lab

Gene Symbol

Tnfaip2

Ensembl Gene

ENSMUSG00000021281

Gene Name

tumor necrosis factor, alpha-induced protein 2

Synonyms

Tnfaip2, tnfb94, Tnfip2

MMRRC Submission

039431-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1366 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

111442469-111455018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111449322 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 485 (F485V)

Ref Sequence

ENSEMBL: ENSMUSP00000105415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102745] [ENSMUST00000109792] [ENSMUST00000129467] [ENSMUST00000172783] [ENSMUST00000174298]

Predicted Effect

probably benign
Transcript: ENSMUST00000102745
AA Change: F468V

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

SMART Domains

Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: F468V

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
low complexity region	83	89	N/A	INTRINSIC
low complexity region	141	147	N/A	INTRINSIC
Pfam:Sec6	157	688	1.3e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109792
AA Change: F485V

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

SMART Domains

Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: F485V

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
low complexity region	83	89	N/A	INTRINSIC
low complexity region	141	147	N/A	INTRINSIC
Pfam:Sec6	157	705	1.7e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127207

Predicted Effect

probably benign
Transcript: ENSMUST00000129467

SMART Domains

Protein: ENSMUSP00000133274
Gene: ENSMUSG00000021281

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
low complexity region	83	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156003

Predicted Effect

probably benign
Transcript: ENSMUST00000172783

SMART Domains

Protein: ENSMUSP00000133635
Gene: ENSMUSG00000021281

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
low complexity region	83	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173581

Predicted Effect

probably benign
Transcript: ENSMUST00000174298

SMART Domains

Protein: ENSMUSP00000133317
Gene: ENSMUSG00000021281

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
low complexity region	42	54	N/A	INTRINSIC
low complexity region	65	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221429

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.8%

Validation Efficiency

93% (43/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	A	5: 31,487,517	C205S	probably benign	Het
Aasdh	A	T	5: 76,888,804	S297T	probably benign	Het
Acsm1	T	C	7: 119,658,288		probably benign	Het
Ankar	T	A	1: 72,698,649	N125Y	probably damaging	Het
Chd1l	T	C	3: 97,581,149	D517G	probably damaging	Het
Cir1	A	T	2: 73,306,413		probably benign	Het
Cpxm1	G	A	2: 130,396,122	R136W	probably damaging	Het
Cyhr1	T	C	15: 76,648,969	R190G	probably damaging	Het
Dnah10	A	T	5: 124,753,326	E761D	probably benign	Het
Fam186a	T	A	15: 99,943,389	E1658V	possibly damaging	Het
Fam98a	A	G	17: 75,539,386		probably benign	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Frmd6	T	C	12: 70,887,889		probably benign	Het
Gmpr2	T	C	14: 55,676,743		probably benign	Het
Hck	G	A	2: 153,138,295	G348D	probably damaging	Het
Ifnab	T	A	4: 88,691,100	Q43L	possibly damaging	Het
Ilkap	A	G	1: 91,387,215	I142T	possibly damaging	Het
Lamc3	T	C	2: 31,928,847	S1206P	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mid1	A	C	X: 169,986,094	N215H	probably damaging	Het
Mkrn1	T	C	6: 39,405,917	T134A	probably benign	Het
Mmp9	T	A	2: 164,953,342	V628E	probably damaging	Het
Msi2	A	T	11: 88,716,580	V67D	probably damaging	Het
Ncapd3	T	A	9: 27,057,940	V630E	probably damaging	Het
Nkain1	A	G	4: 130,537,316	V73A	probably damaging	Het
Nphp4	T	A	4: 152,502,926	D245E	probably damaging	Het
Olfr1014	G	A	2: 85,777,004	C140Y	probably benign	Het
Olfr114	T	C	17: 37,589,764	I196M	probably benign	Het
Olfr57	T	G	10: 79,035,042	M82R	probably damaging	Het
Pkd1l1	T	C	11: 8,941,038		probably benign	Het
Plcxd1	A	C	5: 110,102,230	I184L	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Scube2	A	G	7: 109,804,614	Y890H	probably damaging	Het
Slco6c1	T	A	1: 97,128,203		probably null	Het
Tpd52	T	C	3: 8,963,933	D17G	probably damaging	Het
Ube4b	T	C	4: 149,335,149	D1034G	probably damaging	Het
Vmn2r118	G	A	17: 55,593,237	Q556*	probably null	Het

Other mutations in Tnfaip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Tnfaip2	APN	12	111453549	missense	probably damaging	1.00
IGL01352:Tnfaip2	APN	12	111445619	missense	probably damaging	1.00
IGL02550:Tnfaip2	APN	12	111446101	missense	probably damaging	1.00
R0103:Tnfaip2	UTSW	12	111445810	missense	probably benign	0.38
R0145:Tnfaip2	UTSW	12	111445858	missense	possibly damaging	0.87
R0324:Tnfaip2	UTSW	12	111453459	missense	probably damaging	1.00
R0609:Tnfaip2	UTSW	12	111453507	missense	probably benign	0.01
R0837:Tnfaip2	UTSW	12	111450707	missense	probably damaging	1.00
R1353:Tnfaip2	UTSW	12	111444969	missense	probably damaging	1.00
R1988:Tnfaip2	UTSW	12	111449891	critical splice donor site	probably null
R2109:Tnfaip2	UTSW	12	111448093	missense	probably damaging	1.00
R2147:Tnfaip2	UTSW	12	111446022	missense	probably damaging	1.00
R4003:Tnfaip2	UTSW	12	111451344	splice site	probably benign
R4402:Tnfaip2	UTSW	12	111449851	missense	probably benign	0.43
R4690:Tnfaip2	UTSW	12	111445248	missense	possibly damaging	0.66
R4718:Tnfaip2	UTSW	12	111446029	missense	possibly damaging	0.95
R5271:Tnfaip2	UTSW	12	111448460	intron	probably benign
R6478:Tnfaip2	UTSW	12	111445663	missense	probably damaging	1.00
R7623:Tnfaip2	UTSW	12	111445638	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGTACTTTCTCACGCACCCTAGTG -3'
(R):5'- AGGCTCAGCAAGTTTCCTGTTCC -3'

Sequencing Primer
(F):5'- GGCTCCTCAGGTTTTGCAAC -3'
(R):5'- AGTCAATTGCATCCTGGTGACTC -3'

Posted On

2014-02-11