Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Tnfaip2'

326692

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

042003-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111408903-111421452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111416285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 516 (F516L)

Ref Sequence

ENSEMBL: ENSMUSP00000105415 (fasta)

Gene Model

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

AlphaFold

Q61333

Predicted Effect

probably benign
Transcript: ENSMUST00000102745
AA Change: F499L

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: F499L

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: F516L

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: F516L

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: 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

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

Meta Mutation Damage Score

0.3737

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,020 (GRCm39)	H167Q	probably benign	Het
Adamts20	T	C	15: 94,277,827 (GRCm39)	T212A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atl1	T	G	12: 70,005,973 (GRCm39)	D426E	probably benign	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Canx	T	C	11: 50,195,265 (GRCm39)	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353 (GRCm39)	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,658,609 (GRCm39)	T787A	probably benign	Het
Clstn3	T	C	6: 124,433,939 (GRCm39)	Y407C	probably damaging	Het
Copa	C	A	1: 171,929,791 (GRCm39)	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Def6	A	G	17: 28,438,950 (GRCm39)	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Eif5	A	T	12: 111,508,183 (GRCm39)	K161N	probably benign	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gen1	A	T	12: 11,292,363 (GRCm39)	N475K	possibly damaging	Het
Gm14569	T	C	X: 35,697,146 (GRCm39)	Y521C	probably benign	Het
Gm6124	T	A	7: 38,870,529 (GRCm39)		noncoding transcript	Het
Gpt2	A	T	8: 86,252,188 (GRCm39)	D501V	probably benign	Het
Gstm2	T	C	3: 107,893,370 (GRCm39)	K31R	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga1	T	A	13: 115,138,102 (GRCm39)	M428L	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,076,867 (GRCm39)	W139R	probably benign	Het
Kdm7a	T	A	6: 39,143,602 (GRCm39)	R380W	probably null	Het
Khdrbs1	T	G	4: 129,635,889 (GRCm39)	D22A	possibly damaging	Het
Liph	A	T	16: 21,795,000 (GRCm39)	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,529,456 (GRCm39)	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,291,982 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,709,915 (GRCm39)	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,856,311 (GRCm39)	F1030L	probably damaging	Het
Naca	C	T	10: 127,879,341 (GRCm39)		probably benign	Het
Nob1	A	T	8: 108,145,120 (GRCm39)		probably benign	Het
Nutm1	A	C	2: 112,080,154 (GRCm39)	I587R	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,428,455 (GRCm39)	K143E	probably benign	Het
Pcnt	T	C	10: 76,228,227 (GRCm39)	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,646,365 (GRCm39)	D390E	probably benign	Het
Pkhd1	A	G	1: 20,309,635 (GRCm39)	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Plekhn1	T	C	4: 156,309,813 (GRCm39)	T135A	probably damaging	Het
Pola1	T	C	X: 92,605,029 (GRCm39)	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,341,618 (GRCm39)	T416K	probably benign	Het
Psmd1	A	G	1: 86,003,673 (GRCm39)	I153V	possibly damaging	Het
Rcan2	A	G	17: 44,264,361 (GRCm39)	D7G	probably benign	Het
Rexo5	T	C	7: 119,433,599 (GRCm39)	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,530,802 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,333,985 (GRCm39)	S273P	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,293 (GRCm39)	K256R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Wdr35	A	G	12: 9,039,981 (GRCm39)	D362G	probably damaging	Het
Wwp2	T	C	8: 108,184,610 (GRCm39)	V106A	probably benign	Het
Zfp40	T	A	17: 23,395,693 (GRCm39)	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,393,848 (GRCm39)	M1L	possibly damaging	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
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
R9607:Tnfaip2	UTSW	12	111,412,069 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTCCAGAGAGCAAAGACCTAATGTAG -3'
(R):5'- TATATCCCCAGGAACAGCGC -3'

Sequencing Primer
(F):5'- CTAATGTAGGATGCCTAGTCCAAG -3'
(R):5'- TGAGCCTCTCACAGGTCTGAG -3'

Posted On

2015-07-07