Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Tnip2'

399327

Institutional Source

Beutler Lab

Gene Symbol

Tnip2

Ensembl Gene

ENSMUSG00000059866

Gene Name

TNFAIP3 interacting protein 2

Synonyms

ABIN-2, 1810020H16Rik

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34496087-34513991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34503578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 177 (Q177K)

Ref Sequence

ENSEMBL: ENSMUSP00000030991 (fasta)

Gene Model

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

AlphaFold

Q99JG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030991
AA Change: Q177K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: Q177K

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

possibly damaging
Transcript: ENSMUST00000087737
AA Change: Q177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: Q177K

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

possibly damaging
Transcript: ENSMUST00000114359
AA Change: Q177K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: Q177K

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: T210K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159102

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398 (GRCm38)	C296*	probably null	Het
Adam11	T	A	11: 102,774,272 (GRCm38)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715 (GRCm38)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897 (GRCm38)	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987 (GRCm38)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530 (GRCm38)	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761 (GRCm38)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536 (GRCm38)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416 (GRCm38)		probably benign	Het
Cd200r4	A	C	16: 44,832,090 (GRCm38)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202 (GRCm38)	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514 (GRCm38)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606 (GRCm38)	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452 (GRCm38)	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588 (GRCm38)	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576 (GRCm38)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm38)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931 (GRCm38)	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070 (GRCm38)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345 (GRCm38)	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930 (GRCm38)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740 (GRCm38)	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175 (GRCm38)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690 (GRCm38)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163 (GRCm38)	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287 (GRCm38)	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208 (GRCm38)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198 (GRCm38)		probably null	Het
Gm26526	A	T	7: 39,589,234 (GRCm38)		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462 (GRCm38)	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319 (GRCm38)	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735 (GRCm38)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175 (GRCm38)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594 (GRCm38)	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368 (GRCm38)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598 (GRCm38)	R327*	probably null	Het
Lama1	T	A	17: 67,756,716 (GRCm38)	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107 (GRCm38)	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070 (GRCm38)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745 (GRCm38)		probably benign	Het
Mbip	A	G	12: 56,337,443 (GRCm38)	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922 (GRCm38)	V398D	probably benign	Het
Mog	T	G	17: 37,012,372 (GRCm38)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436 (GRCm38)		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540 (GRCm38)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120 (GRCm38)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606 (GRCm38)	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297 (GRCm38)	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567 (GRCm38)		probably null	Het
Nkd1	A	G	8: 88,589,194 (GRCm38)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560 (GRCm38)	K284*	probably null	Het
Or14a259	A	T	7: 86,364,190 (GRCm38)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,034,678 (GRCm38)	A242S	possibly damaging	Het
Or4l1	A	T	14: 49,928,779 (GRCm38)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,603,789 (GRCm38)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,241,248 (GRCm38)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,297,921 (GRCm38)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,873,445 (GRCm38)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,386,140 (GRCm38)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825 (GRCm38)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620 (GRCm38)	D243V	probably benign	Het
Polq	A	T	16: 37,089,319 (GRCm38)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738 (GRCm38)	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202 (GRCm38)		probably benign	Het
Tarbp1	G	A	8: 126,467,156 (GRCm38)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547 (GRCm38)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483 (GRCm38)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806 (GRCm38)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033 (GRCm38)	K158N	probably benign	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm38)		probably null	Het
Ttc28	C	T	5: 111,271,238 (GRCm38)	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359 (GRCm38)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600 (GRCm38)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077 (GRCm38)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318 (GRCm38)	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496 (GRCm38)		probably benign	Het
Wrap73	A	G	4: 154,155,346 (GRCm38)	Y343C	probably benign	Het

Other mutations in Tnip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Tnip2	APN	5	34,499,299 (GRCm38)	missense	probably benign	0.29
IGL01980:Tnip2	APN	5	34,496,868 (GRCm38)	missense	probably benign	0.17
IGL02649:Tnip2	APN	5	34,513,731 (GRCm38)	missense	probably damaging	1.00
IGL03122:Tnip2	APN	5	34,503,751 (GRCm38)	missense	possibly damaging	0.94
PIT4445001:Tnip2	UTSW	5	34,496,871 (GRCm38)	missense	probably benign	0.41
R1713:Tnip2	UTSW	5	34,503,831 (GRCm38)	splice site	probably benign
R1782:Tnip2	UTSW	5	34,499,668 (GRCm38)	missense	probably benign	0.21
R2183:Tnip2	UTSW	5	34,499,613 (GRCm38)	intron	probably benign
R2184:Tnip2	UTSW	5	34,499,613 (GRCm38)	intron	probably benign
R4417:Tnip2	UTSW	5	34,503,581 (GRCm38)	nonsense	probably null
R5216:Tnip2	UTSW	5	34,503,805 (GRCm38)	missense	probably damaging	0.99
R5287:Tnip2	UTSW	5	34,513,764 (GRCm38)	missense	probably damaging	1.00
R5403:Tnip2	UTSW	5	34,513,764 (GRCm38)	missense	probably damaging	1.00
R5839:Tnip2	UTSW	5	34,496,632 (GRCm38)	utr 3 prime	probably benign
R6355:Tnip2	UTSW	5	34,499,197 (GRCm38)	nonsense	probably null
R6379:Tnip2	UTSW	5	34,503,635 (GRCm38)	missense	probably damaging	1.00
R7389:Tnip2	UTSW	5	34,513,801 (GRCm38)	missense	probably benign	0.04
R8224:Tnip2	UTSW	5	34,513,659 (GRCm38)	missense	possibly damaging	0.46
R9034:Tnip2	UTSW	5	34,513,833 (GRCm38)	missense	probably damaging	1.00
R9722:Tnip2	UTSW	5	34,496,868 (GRCm38)	missense	probably benign	0.17

Predicted Primers

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

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

Posted On

2016-07-06