Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:Tnip2'

326877

Institutional Source

Beutler Lab

Gene Symbol

Tnip2

Ensembl Gene

ENSMUSG00000059866

Gene Name

TNFAIP3 interacting protein 2

Synonyms

ABIN-2, 1810020H16Rik

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34653440-34671323 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 34660925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 176 (R176*)

Ref Sequence

ENSEMBL: ENSMUSP00000109999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]

AlphaFold

Q99JG7

Predicted Effect

probably null
Transcript: ENSMUST00000030991
AA Change: R176*

SMART Domains

Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: R176*

Domain	Start	End	E-Value	Type
coiled coil region	30	123	N/A	INTRINSIC
Pfam:EABR	236	269	7.2e-21	PFAM
Pfam:CC2-LZ	264	364	5.5e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000087737
AA Change: R176*

SMART Domains

Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: R176*

Domain	Start	End	E-Value	Type
coiled coil region	30	123	N/A	INTRINSIC
Pfam:EABR	215	249	4.9e-23	PFAM
coiled coil region	256	341	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114359
AA Change: R176*

SMART Domains

Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: R176*

Domain	Start	End	E-Value	Type
coiled coil region	30	123	N/A	INTRINSIC
coiled coil region	225	258	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144791
AA Change: T209M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159102

Meta Mutation Damage Score

0.9653

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele have impaired IL-1 response and macrophage physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	A	1: 85,654,184 (GRCm39)	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,474,398 (GRCm39)	T631K	probably damaging	Het
BC004004	G	A	17: 29,501,249 (GRCm39)		probably benign	Het
Cabp1	G	A	5: 115,324,096 (GRCm39)	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Clhc1	T	C	11: 29,521,826 (GRCm39)	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666 (GRCm39)	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,896,466 (GRCm39)	E61G	unknown	Het
Col6a4	C	T	9: 105,949,215 (GRCm39)	V807I	probably damaging	Het
Crhbp	T	C	13: 95,580,385 (GRCm39)	S65G	probably benign	Het
Dnah9	T	A	11: 65,872,040 (GRCm39)	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,760,256 (GRCm39)	R453*	probably null	Het
Fez1	T	C	9: 36,781,768 (GRCm39)		probably benign	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glp2r	T	C	11: 67,555,342 (GRCm39)		probably benign	Het
Gpm6a	T	A	8: 55,503,223 (GRCm39)	N157K	probably damaging	Het
Kcnj2	T	C	11: 110,963,015 (GRCm39)	S136P	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lcp2	G	T	11: 34,000,917 (GRCm39)	E33D	probably benign	Het
Lrrc32	G	T	7: 98,148,144 (GRCm39)	R308L	probably benign	Het
Matr3	C	A	18: 35,705,171 (GRCm39)	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,200,537 (GRCm39)		probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,038,586 (GRCm39)	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,805,333 (GRCm39)		probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or4c125	T	C	2: 89,170,331 (GRCm39)	E105G	probably benign	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pitpnm2	G	T	5: 124,261,632 (GRCm39)	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756 (GRCm39)	E578G	probably benign	Het
Pum3	A	G	19: 27,400,116 (GRCm39)	I183T	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Slit1	A	G	19: 41,602,908 (GRCm39)	C968R	probably damaging	Het
Spag9	A	T	11: 93,951,172 (GRCm39)		probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Stradb	T	C	1: 59,033,531 (GRCm39)	V398A	probably benign	Het
Tlr4	A	T	4: 66,757,540 (GRCm39)	N111I	probably damaging	Het
Tomm7	A	G	5: 24,048,977 (GRCm39)	I32T	probably benign	Het
Trank1	T	C	9: 111,195,036 (GRCm39)	I1020T	probably benign	Het
Ugt1a10	T	G	1: 87,983,717 (GRCm39)	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,564,854 (GRCm39)	M247K	probably benign	Het
Zfp341	T	C	2: 154,470,907 (GRCm39)	L308P	possibly damaging	Het
Zmym6	T	C	4: 126,986,781 (GRCm39)	S154P	probably damaging	Het

Other mutations in Tnip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Tnip2	APN	5	34,656,643 (GRCm39)	missense	probably benign	0.29
IGL01980:Tnip2	APN	5	34,654,212 (GRCm39)	missense	probably benign	0.17
IGL02649:Tnip2	APN	5	34,671,075 (GRCm39)	missense	probably damaging	1.00
IGL03122:Tnip2	APN	5	34,661,095 (GRCm39)	missense	possibly damaging	0.94
PIT4445001:Tnip2	UTSW	5	34,654,215 (GRCm39)	missense	probably benign	0.41
R1713:Tnip2	UTSW	5	34,661,175 (GRCm39)	splice site	probably benign
R1782:Tnip2	UTSW	5	34,657,012 (GRCm39)	missense	probably benign	0.21
R2183:Tnip2	UTSW	5	34,656,957 (GRCm39)	intron	probably benign
R2184:Tnip2	UTSW	5	34,656,957 (GRCm39)	intron	probably benign
R5216:Tnip2	UTSW	5	34,661,149 (GRCm39)	missense	probably damaging	0.99
R5254:Tnip2	UTSW	5	34,660,922 (GRCm39)	missense	probably damaging	0.99
R5287:Tnip2	UTSW	5	34,671,108 (GRCm39)	missense	probably damaging	1.00
R5403:Tnip2	UTSW	5	34,671,108 (GRCm39)	missense	probably damaging	1.00
R5839:Tnip2	UTSW	5	34,653,976 (GRCm39)	utr 3 prime	probably benign
R6355:Tnip2	UTSW	5	34,656,541 (GRCm39)	nonsense	probably null
R6379:Tnip2	UTSW	5	34,660,979 (GRCm39)	missense	probably damaging	1.00
R7389:Tnip2	UTSW	5	34,671,145 (GRCm39)	missense	probably benign	0.04
R8224:Tnip2	UTSW	5	34,671,003 (GRCm39)	missense	possibly damaging	0.46
R9034:Tnip2	UTSW	5	34,671,177 (GRCm39)	missense	probably damaging	1.00
R9722:Tnip2	UTSW	5	34,654,212 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGGTCACATGTTCCACCAGATC -3'
(R):5'- AGATGCAACAGCTGATGAGC -3'

Sequencing Primer
(F):5'- ACCAGATCTCTCCTGCTAAGC -3'
(R):5'- TGAGCCAGCCTCAGCATGAG -3'

Posted On

2015-07-07