Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01023:Tnfaip8l2'

53505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnfaip8l2

Ensembl Gene

ENSMUSG00000013707

Gene Name

tumor necrosis factor, alpha-induced protein 8-like 2

Synonyms

Tipe2, 1810019A08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL01023

Quality Score

Status

Chromosome

Chromosomal Location

95046832-95049671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95047726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000013851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013851] [ENSMUST00000066386]

AlphaFold

Q9D8Y7

Predicted Effect

probably damaging
Transcript: ENSMUST00000013851
AA Change: S46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013851
Gene: ENSMUSG00000013707
AA Change: S46P

Domain	Start	End	E-Value	Type
Pfam:DUF758	4	182	2.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066386

SMART Domains

Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769

Domain	Start	End	E-Value	Type
low complexity region	10	19	N/A	INTRINSIC
LysM	41	85	2.58e-7	SMART
low complexity region	100	108	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184238

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: About 50% of mice homozygous for a null allele die prematurely of a chronic disease characterized by weight loss, splenomegaly, leukocytosis, and multiorgan inflammation; mutants are hypersensitive to septic shock while cells are hyperresponsive to Toll-like receptor and T cell receptor activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,471,649 (GRCm39)	L1472P	probably damaging	Het
Col18a1	C	T	10: 76,906,809 (GRCm39)	V1151M	probably damaging	Het
Crmp1	A	T	5: 37,433,657 (GRCm39)	D286V	probably damaging	Het
Ddx60	A	T	8: 62,395,548 (GRCm39)	I162F	probably damaging	Het
Fam24b	A	T	7: 130,927,903 (GRCm39)	C95*	probably null	Het
Fsd1	A	G	17: 56,295,245 (GRCm39)	Y78C	probably damaging	Het
Galc	C	T	12: 98,197,681 (GRCm39)	V343I	probably benign	Het
Glis2	C	T	16: 4,429,514 (GRCm39)	R214C	probably damaging	Het
Gm14406	A	T	2: 177,261,032 (GRCm39)	C416S	probably damaging	Het
Gnat3	T	C	5: 18,208,826 (GRCm39)	S177P	probably damaging	Het
Higd1a	C	T	9: 121,678,749 (GRCm39)	G80D	possibly damaging	Het
Hp1bp3	T	C	4: 137,967,940 (GRCm39)	V421A	possibly damaging	Het
Ipo11	A	T	13: 107,033,767 (GRCm39)	F238L	probably benign	Het
Med26	A	T	8: 73,249,718 (GRCm39)	F460L	possibly damaging	Het
Or5as1	T	A	2: 86,980,169 (GRCm39)	T279S	possibly damaging	Het
Osbp2	T	C	11: 3,813,387 (GRCm39)	I161V	probably benign	Het
Prr5	T	C	15: 84,583,856 (GRCm39)	V152A	possibly damaging	Het
Prx	T	A	7: 27,218,844 (GRCm39)	I1115K	probably benign	Het
Ptpn22	A	G	3: 103,810,690 (GRCm39)	I708M	probably benign	Het
Robo3	T	C	9: 37,340,847 (GRCm39)	T120A	probably damaging	Het
Setd2	C	A	9: 110,376,581 (GRCm39)	S132*	probably null	Het
Slc9a1	A	G	4: 133,149,454 (GRCm39)	E760G	probably benign	Het
Slco1a7	A	G	6: 141,700,155 (GRCm39)	S126P	probably benign	Het
Stx16	A	T	2: 173,934,202 (GRCm39)	H135L	probably damaging	Het
Tas2r131	A	T	6: 132,934,764 (GRCm39)	L15Q	probably damaging	Het
Thoc2l	T	A	5: 104,668,366 (GRCm39)	W963R	probably damaging	Het
Tmcc1	A	G	6: 116,019,988 (GRCm39)	L128P	probably damaging	Het
Tmem269	C	A	4: 119,066,511 (GRCm39)	M182I	probably benign	Het
Trim30c	A	G	7: 104,032,179 (GRCm39)		probably benign	Het
Unc13a	C	T	8: 72,114,469 (GRCm39)	E184K	probably benign	Het
Wfs1	A	T	5: 37,125,261 (GRCm39)	C467*	probably null	Het
Zfp78	G	A	7: 6,378,587 (GRCm39)	G77D	possibly damaging	Het

Other mutations in Tnfaip8l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02417:Tnfaip8l2	APN	3	95,047,714 (GRCm39)	missense	probably benign	0.04
R0025:Tnfaip8l2	UTSW	3	95,047,339 (GRCm39)	missense	probably damaging	1.00
R2698:Tnfaip8l2	UTSW	3	95,047,672 (GRCm39)	missense	possibly damaging	0.76
R7777:Tnfaip8l2	UTSW	3	95,047,307 (GRCm39)	makesense	probably null
R8369:Tnfaip8l2	UTSW	3	95,047,486 (GRCm39)	missense	probably benign	0.09
R9312:Tnfaip8l2	UTSW	3	95,047,767 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-28