Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00328:Tnfaip8'

3326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnfaip8

Ensembl Gene

ENSMUSG00000062210

Gene Name

tumor necrosis factor, alpha-induced protein 8

Synonyms

Nded, Tipe, E130304C20Rik, Gm10539, Ssc-2, Gg2-1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL00328

Quality Score

Status

Chromosome

Chromosomal Location

50112494-50226296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50223393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 67 (E67G)

Ref Sequence

ENSEMBL: ENSMUSP00000115396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126666] [ENSMUST00000128377] [ENSMUST00000134348] [ENSMUST00000145726] [ENSMUST00000148159] [ENSMUST00000148989] [ENSMUST00000153873] [ENSMUST00000179937]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000126666
AA Change: E67G

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

SMART Domains

Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
AA Change: E67G

Domain	Start	End	E-Value	Type
Pfam:DUF758	27	212	6.5e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128377
AA Change: E47G

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

SMART Domains

Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
AA Change: E47G

Domain	Start	End	E-Value	Type
Pfam:DUF758	7	166	1.2e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134348
AA Change: E67G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210
AA Change: E67G

Domain	Start	End	E-Value	Type
Pfam:DUF758	27	77	3.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145726

SMART Domains

Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210

Domain	Start	End	E-Value	Type
Pfam:DUF758	1	100	4.4e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148159
AA Change: E67G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119041
Gene: ENSMUSG00000062210
AA Change: E67G

Domain	Start	End	E-Value	Type
Pfam:DUF758	30	210	1.2e-80	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148989
AA Change: E43G

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

SMART Domains

Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
AA Change: E43G

Domain	Start	End	E-Value	Type
Pfam:DUF758	3	188	4.1e-98	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153545

Predicted Effect

probably damaging
Transcript: ENSMUST00000153873
AA Change: E67G

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

SMART Domains

Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210
AA Change: E67G

Domain	Start	End	E-Value	Type
Pfam:DUF758	27	114	9e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179937
AA Change: E43G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210
AA Change: E43G

Domain	Start	End	E-Value	Type
Pfam:DUF758	3	134	1.1e-54	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,809 (GRCm39)	V378I	possibly damaging	Het
Acad12	C	T	5: 121,742,316 (GRCm39)		probably benign	Het
Bap1	T	G	14: 30,975,526 (GRCm39)	S123R	probably damaging	Het
Cers2	A	T	3: 95,227,997 (GRCm39)	K73I	probably benign	Het
Dab1	T	C	4: 104,545,635 (GRCm39)	V240A	possibly damaging	Het
Fry	C	T	5: 150,263,869 (GRCm39)	R171*	probably null	Het
Krtap5-3	G	T	7: 141,755,612 (GRCm39)		probably benign	Het
Ltn1	A	G	16: 87,215,378 (GRCm39)	I419T	probably benign	Het
Map4k4	A	G	1: 40,043,976 (GRCm39)	R540G	probably damaging	Het
Mki67	A	C	7: 135,298,424 (GRCm39)	S2203R	probably benign	Het
Ptrh1	G	T	2: 32,666,353 (GRCm39)		probably null	Het
Vmn1r2	T	A	4: 3,172,807 (GRCm39)	L242Q	probably damaging	Het
Vmn2r52	A	G	7: 9,905,344 (GRCm39)	L165P	probably benign	Het

Other mutations in Tnfaip8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03391:Tnfaip8	APN	18	50,223,552 (GRCm39)	missense	probably damaging	0.96
FR4304:Tnfaip8	UTSW	18	50,179,906 (GRCm39)	frame shift	probably null
FR4449:Tnfaip8	UTSW	18	50,179,906 (GRCm39)	frame shift	probably null
R0605:Tnfaip8	UTSW	18	50,179,912 (GRCm39)	small deletion	probably benign
R1696:Tnfaip8	UTSW	18	50,223,290 (GRCm39)	nonsense	probably null
R1804:Tnfaip8	UTSW	18	50,223,728 (GRCm39)	missense	probably damaging	1.00
R2247:Tnfaip8	UTSW	18	50,179,912 (GRCm39)	frame shift	probably null
R3963:Tnfaip8	UTSW	18	50,223,653 (GRCm39)	missense	possibly damaging	0.95
R4258:Tnfaip8	UTSW	18	50,223,443 (GRCm39)	missense	possibly damaging	0.55
R4738:Tnfaip8	UTSW	18	50,223,569 (GRCm39)	missense	probably damaging	1.00
R6229:Tnfaip8	UTSW	18	50,184,742 (GRCm39)	unclassified	probably benign
R7786:Tnfaip8	UTSW	18	50,180,179 (GRCm39)	missense	unknown
R7786:Tnfaip8	UTSW	18	50,180,178 (GRCm39)	missense	unknown
R8832:Tnfaip8	UTSW	18	50,179,908 (GRCm39)	critical splice donor site	probably benign
R8889:Tnfaip8	UTSW	18	50,179,908 (GRCm39)	critical splice donor site	probably benign
R9611:Tnfaip8	UTSW	18	50,179,908 (GRCm39)	critical splice donor site	probably benign
R9649:Tnfaip8	UTSW	18	50,223,512 (GRCm39)	nonsense	probably null
RF024:Tnfaip8	UTSW	18	50,179,898 (GRCm39)	critical splice donor site	probably benign
RF052:Tnfaip8	UTSW	18	50,179,900 (GRCm39)	frame shift	probably null
RF062:Tnfaip8	UTSW	18	50,179,898 (GRCm39)	critical splice donor site	probably benign

Posted On

2012-04-20