Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Tnfaip8'

321929

Institutional Source

Beutler Lab

Gene Symbol

Tnfaip8

Ensembl Gene

ENSMUSG00000062210

Gene Name

tumor necrosis factor, alpha-induced protein 8

Synonyms

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

MMRRC Submission

041071-MU

Accession Numbers

Essential gene?

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

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50112494-50226296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50223443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 60 (R60G)

Ref Sequence

ENSEMBL: ENSMUSP00000136030 (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 benign
Transcript: ENSMUST00000126666
AA Change: R84G

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
AA Change: R84G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128377
AA Change: R64G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
AA Change: R64G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134348

SMART Domains

Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210

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 benign
Transcript: ENSMUST00000148159
AA Change: R84G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119041
Gene: ENSMUSG00000062210
AA Change: R84G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148989
AA Change: R60G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
AA Change: R60G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153545

Predicted Effect

probably benign
Transcript: ENSMUST00000153873
AA Change: R84G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210
AA Change: R84G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179937
AA Change: R60G

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210
AA Change: R60G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Colec12	T	C	18: 9,720,950 (GRCm39)	S13P	probably damaging	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877 (GRCm39)	V134I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961 (GRCm38)	N36Y	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lipo2	A	T	19: 33,708,328 (GRCm39)	F229I	possibly damaging	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,732,576 (GRCm39)	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (GRCm39)		probably null	Het

Other mutations in Tnfaip8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Tnfaip8	APN	18	50,223,393 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGTGGCTACAGATGTCTTC -3'
(R):5'- AATGATCTCGTGTAGGAGCTCTC -3'

Sequencing Primer
(F):5'- GCAGTGGCTACAGATGTCTTCAATTC -3'
(R):5'- AGCCTGGACAGCACATTG -3'

Posted On

2015-06-20