Mutagenetix > Incidental Mutation

Incidental Mutation 'R5403:Tnip2'

430096

Institutional Source

Beutler Lab

Gene Symbol

Tnip2

Ensembl Gene

ENSMUSG00000059866

Gene Name

TNFAIP3 interacting protein 2

Synonyms

ABIN-2, 1810020H16Rik

MMRRC Submission

042974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R5403 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

34653440-34671323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34671108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 45 (L45P)

Ref Sequence

ENSEMBL: ENSMUSP00000109999 (fasta)

Gene Model

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

AlphaFold

Q99JG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030991
AA Change: L45P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: L45P

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 damaging
Transcript: ENSMUST00000087737
AA Change: L45P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: L45P

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 damaging
Transcript: ENSMUST00000114359
AA Change: L45P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: L45P

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: ENSMUST00000159102

Meta Mutation Damage Score

0.3204

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,489,323 (GRCm39)	D392G	possibly damaging	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Alkbh8	A	G	9: 3,385,318 (GRCm39)	K537E	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Bpifb4	A	T	2: 153,785,912 (GRCm39)	I17F	probably damaging	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Ccdc88b	T	A	19: 6,835,108 (GRCm39)	T38S	unknown	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Cdr2	G	A	7: 120,557,968 (GRCm39)	Q186*	probably null	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntnap3	G	A	13: 64,909,792 (GRCm39)	T771I	possibly damaging	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Ddx50	A	G	10: 62,482,809 (GRCm39)	S87P	probably benign	Het
Dennd2b	A	G	7: 109,156,112 (GRCm39)	S213P	probably damaging	Het
Dlg2	A	G	7: 92,080,210 (GRCm39)	T598A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epha6	A	T	16: 59,595,933 (GRCm39)	D919E	probably damaging	Het
Fndc9	C	T	11: 46,128,541 (GRCm39)	S20L	probably benign	Het
Gpx6	A	G	13: 21,501,813 (GRCm39)	E145G	probably damaging	Het
Hc	A	G	2: 34,947,446 (GRCm39)	Y23H	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Jmy	G	T	13: 93,577,904 (GRCm39)	Q755K	probably benign	Het
Krtap4-7	A	T	11: 99,534,540 (GRCm39)	S108T	unknown	Het
Mgat5b	T	G	11: 116,839,483 (GRCm39)	I333S	probably benign	Het
Mrtfb	A	G	16: 13,218,877 (GRCm39)	T519A	probably damaging	Het
Naip6	G	A	13: 100,436,585 (GRCm39)	A646V	probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Or8g22	G	T	9: 38,957,999 (GRCm39)	P239T	probably damaging	Het
Otogl	T	A	10: 107,644,617 (GRCm39)	M1210L	probably benign	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Rad50	A	G	11: 53,586,108 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Tbcd	C	A	11: 121,451,569 (GRCm39)	N546K	probably damaging	Het
Tenm4	A	G	7: 96,538,034 (GRCm39)	D1832G	probably damaging	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ube2o	A	T	11: 116,439,633 (GRCm39)	I179N	possibly damaging	Het
Usp17le	T	C	7: 104,418,441 (GRCm39)	I234V	probably damaging	Het
Zfp106	T	C	2: 120,365,262 (GRCm39)	T382A	probably benign	Het
Zfp607a	A	G	7: 27,578,744 (GRCm39)	K605E	possibly damaging	Het
Zmynd10	T	A	9: 107,427,785 (GRCm39)	L363H	possibly 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
R4417:Tnip2	UTSW	5	34,660,925 (GRCm39)	nonsense	probably null
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
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'- GAGCTTCATATCCTCGCGAC -3'
(R):5'- AAGTTGGAGACGCCCAAGTC -3'

Sequencing Primer
(F):5'- AAGACCTCGCGCATCTCTG -3'
(R):5'- AAGTCCCCACGGAAGGC -3'

Posted On

2016-09-06