Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Tnfaip2'

723957

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 #

R9607 (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 A at 111412069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 157 (Q157K)

Ref Sequence

ENSEMBL: ENSMUSP00000105415 (fasta)

Gene Model

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

AlphaFold

Q61333

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102745
AA Change: Q157K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: Q157K

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

possibly damaging
Transcript: ENSMUST00000109792
AA Change: Q157K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: Q157K

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: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	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
R9407:Tnfaip2	UTSW	12	111,412,161 (GRCm39)	missense	probably benign

Predicted Primers

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

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

Posted On

2022-09-12