Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Tnfaip2'

400336

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

042861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111408903-111421452 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 111414894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q61333

Predicted Effect

probably benign
Transcript: ENSMUST00000102745

SMART Domains

Protein: ENSMUSP00000099806
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
low complexity region	141	147	N/A	INTRINSIC
Pfam:Sec6	157	688	1.3e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109792

SMART Domains

Protein: ENSMUSP00000105415
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
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: ENSMUST00000174692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221429

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: ENSMUST00000173581

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	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
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
R9607:Tnfaip2	UTSW	12	111,412,069 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTTTCCCCTAGACCAGCGTG -3'
(R):5'- TCAGGTGCTGTAGACACACC -3'

Sequencing Primer
(F):5'- TCATGGCCCGAGCTTTAGAG -3'
(R):5'- ACCTCCTCAGTAGTGCAGC -3'

Posted On

2016-07-06