Mutagenetix > Incidental Mutation

Incidental Mutation 'R9407:Tnfaip2'

711610

Institutional Source

Beutler Lab

Gene Symbol

Tnfaip2

Ensembl Gene

ENSMUSG00000021281

Gene Name

tumor necrosis factor, alpha-induced protein 2

Synonyms

M-sec, Tnfip2, Exoc3l3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111408903-111421452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 111412161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 187 (S187R)

Ref Sequence

ENSEMBL: ENSMUSP00000105415 (fasta)

Gene Model

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

AlphaFold

Q61333

Predicted Effect

probably benign
Transcript: ENSMUST00000102745
AA Change: S187R

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

SMART Domains

Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: S187R

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: S187R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: S187R

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,629 (GRCm39)	Y49C	probably damaging	Het
Abca6	A	T	11: 110,093,210 (GRCm39)	L1021*	probably null	Het
Abcc9	A	G	6: 142,574,229 (GRCm39)	S1003P	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,345 (GRCm39)	I505V	probably benign	Het
Brwd1	T	C	16: 95,803,693 (GRCm39)	D2159G	possibly damaging	Het
C1s2	T	C	6: 124,602,454 (GRCm39)	I586V	probably benign	Het
Cd300e	C	A	11: 114,946,171 (GRCm39)	D97Y	probably damaging	Het
Celsr3	A	G	9: 108,723,596 (GRCm39)	D2877G	probably damaging	Het
Cep41	T	C	6: 30,655,841 (GRCm39)	N328D	probably benign	Het
Cldn15	G	A	5: 137,003,765 (GRCm39)	V227M	probably damaging	Het
Clec10a	T	G	11: 70,060,155 (GRCm39)	I98S	probably damaging	Het
Cpne4	A	G	9: 104,749,963 (GRCm39)	Q89R	probably damaging	Het
Cryba2	C	A	1: 74,932,037 (GRCm39)	A4S	probably benign	Het
Csmd2	G	A	4: 128,442,613 (GRCm39)	A3222T		Het
Dapk1	C	A	13: 60,898,991 (GRCm39)	Y820*	probably null	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Entrep3	C	A	3: 89,094,645 (GRCm39)	A416D	possibly damaging	Het
Gar1	A	G	3: 129,620,608 (GRCm39)	Y160H	probably damaging	Het
Gm21834	T	A	17: 58,048,863 (GRCm39)	I118L	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Gzmb	T	A	14: 56,497,712 (GRCm39)	Y176F	probably benign	Het
Helz2	T	G	2: 180,881,975 (GRCm39)	K273Q	probably benign	Het
Ifi207	T	A	1: 173,555,234 (GRCm39)	E816V	probably damaging	Het
Insr	A	C	8: 3,235,106 (GRCm39)	D694E	probably benign	Het
Insyn2b	G	A	11: 34,352,072 (GRCm39)	R38Q	probably damaging	Het
Ipcef1	A	T	10: 6,870,036 (GRCm39)	C172*	probably null	Het
Itgal	T	G	7: 126,921,796 (GRCm39)		probably null	Het
Laptm5	A	T	4: 130,655,990 (GRCm39)	M103L		Het
Lypd4	A	T	7: 24,566,160 (GRCm39)	C55S	probably null	Het
Mccc1	A	C	3: 36,030,865 (GRCm39)	H400Q	possibly damaging	Het
Myl4	C	T	11: 104,474,887 (GRCm39)	R79W	probably damaging	Het
Myo18a	A	G	11: 77,709,596 (GRCm39)	T569A	probably benign	Het
Or14a259	G	C	7: 86,013,194 (GRCm39)	S117*	probably null	Het
Or4c117	T	A	2: 88,955,629 (GRCm39)	T149S	probably benign	Het
Or5ak24	A	G	2: 85,261,060 (GRCm39)	S38P	probably damaging	Het
Otof	T	A	5: 30,538,265 (GRCm39)	D1153V	probably damaging	Het
Pcdha12	A	T	18: 37,153,614 (GRCm39)	D111V	probably damaging	Het
Pomt2	G	T	12: 87,157,146 (GRCm39)	F724L	probably damaging	Het
Ros1	T	A	10: 51,994,491 (GRCm39)	Y1284F	probably damaging	Het
Skint6	T	C	4: 113,034,224 (GRCm39)	K301R	possibly damaging	Het
Slc30a5	T	A	13: 100,951,214 (GRCm39)	R223*	probably null	Het
Slc35a1	A	T	4: 34,675,181 (GRCm39)	V119E	probably damaging	Het
Slc6a11	A	T	6: 114,220,914 (GRCm39)	I482F	probably damaging	Het
Tektl1	T	C	10: 78,583,128 (GRCm39)	T419A	probably damaging	Het
Tgm1	A	T	14: 55,942,991 (GRCm39)	C616*	probably null	Het
Tiam2	T	A	17: 3,553,298 (GRCm39)	I1125N	probably damaging	Het
Tln2	T	C	9: 67,136,732 (GRCm39)	D1251G	probably damaging	Het
Ush2a	A	G	1: 188,644,045 (GRCm39)	Y4469C	probably damaging	Het
Vmn1r229	G	C	17: 21,035,259 (GRCm39)	C168S	probably damaging	Het
Vmn2r53	A	G	7: 12,335,124 (GRCm39)	S179P	probably damaging	Het
Zfp474	A	C	18: 52,771,502 (GRCm39)	I52L	probably benign	Het

Other mutations in Tnfaip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Tnfaip2	APN	12	111,419,983 (GRCm39)	missense	probably damaging	1.00
IGL01352:Tnfaip2	APN	12	111,412,053 (GRCm39)	missense	probably damaging	1.00
IGL02550:Tnfaip2	APN	12	111,412,535 (GRCm39)	missense	probably damaging	1.00
R0103:Tnfaip2	UTSW	12	111,412,244 (GRCm39)	missense	probably benign	0.38
R0145:Tnfaip2	UTSW	12	111,412,292 (GRCm39)	missense	possibly damaging	0.87
R0324:Tnfaip2	UTSW	12	111,419,893 (GRCm39)	missense	probably damaging	1.00
R0609:Tnfaip2	UTSW	12	111,419,941 (GRCm39)	missense	probably benign	0.01
R0837:Tnfaip2	UTSW	12	111,417,141 (GRCm39)	missense	probably damaging	1.00
R1353:Tnfaip2	UTSW	12	111,411,403 (GRCm39)	missense	probably damaging	1.00
R1366:Tnfaip2	UTSW	12	111,415,756 (GRCm39)	missense	probably benign	0.00
R1988:Tnfaip2	UTSW	12	111,416,325 (GRCm39)	critical splice donor site	probably null
R2109:Tnfaip2	UTSW	12	111,414,527 (GRCm39)	missense	probably damaging	1.00
R2147:Tnfaip2	UTSW	12	111,412,456 (GRCm39)	missense	probably damaging	1.00
R4003:Tnfaip2	UTSW	12	111,417,778 (GRCm39)	splice site	probably benign
R4402:Tnfaip2	UTSW	12	111,416,285 (GRCm39)	missense	probably benign	0.43
R4690:Tnfaip2	UTSW	12	111,411,682 (GRCm39)	missense	possibly damaging	0.66
R4718:Tnfaip2	UTSW	12	111,412,463 (GRCm39)	missense	possibly damaging	0.95
R5271:Tnfaip2	UTSW	12	111,414,894 (GRCm39)	intron	probably benign
R6478:Tnfaip2	UTSW	12	111,412,097 (GRCm39)	missense	probably damaging	1.00
R7623:Tnfaip2	UTSW	12	111,412,072 (GRCm39)	missense	probably damaging	0.98
R8951:Tnfaip2	UTSW	12	111,412,310 (GRCm39)	missense	probably benign	0.01
R9168:Tnfaip2	UTSW	12	111,411,382 (GRCm39)	missense	probably damaging	1.00
R9607:Tnfaip2	UTSW	12	111,412,069 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTTTCAGTGGAGGAGCTCAAGG -3'
(R):5'- TTCATGGTGCGACCCATGTG -3'

Sequencing Primer
(F):5'- TCAAGGAGGCCCTGGAG -3'
(R):5'- ACCCATGTGCAGGAACCTG -3'

Posted On

2022-05-16