Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02588:Nlrp1b'

299596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71182279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 246 (L246*)

Ref Sequence

ENSEMBL: ENSMUSP00000104155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094046] [ENSMUST00000108514] [ENSMUST00000108515] [ENSMUST00000108516] [ENSMUST00000136493]

AlphaFold

A1Z198

Predicted Effect

probably benign
Transcript: ENSMUST00000094046

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	6.7e-43	PFAM
LRR	627	654	2.24e0	SMART
LRR	656	683	8.82e0	SMART
LRR	684	711	3.49e-5	SMART
Pfam:FIIND	812	1064	8.2e-104	PFAM
Pfam:CARD	1083	1166	3.1e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108514
AA Change: L246*

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: L246*

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	2.1e-40	PFAM
LRR	630	657	2.24e0	SMART
LRR	659	686	8.82e0	SMART
LRR	687	714	3.49e-5	SMART
Pfam:FIIND	814	1068	2.4e-136	PFAM
Pfam:CARD	1086	1169	3.7e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108515
AA Change: L246*

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: L246*

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	6.9e-41	PFAM
LRR	630	657	2.24e0	SMART
LRR	659	686	8.82e0	SMART
LRR	687	714	3.49e-5	SMART
Pfam:FIIND	815	1067	5e-104	PFAM
Pfam:CARD	1086	1169	1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108516

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	2.2e-42	PFAM
LRR	627	654	2.24e0	SMART
LRR	656	683	8.82e0	SMART
LRR	684	711	3.49e-5	SMART
Pfam:FIIND	811	1065	3.9e-136	PFAM
Pfam:CARD	1083	1166	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136493

SMART Domains

Protein: ENSMUSP00000121155
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	8.9e-43	PFAM
PDB:4IM6\|A	610	662	6e-10	PDB
Blast:LRR	627	654	3e-11	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection from anthrax lethal toxin-induced lung injury and pyroptosis of macrophages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,886,499	W258*	probably null	Het
Ankmy2	T	C	12: 36,176,686		probably benign	Het
Arhgap26	G	T	18: 38,601,617		probably benign	Het
Aspscr1	A	G	11: 120,677,531	D60G	possibly damaging	Het
Cdh15	C	A	8: 122,856,552	Y31*	probably null	Het
Cnih3	A	G	1: 181,409,704	R76G	probably benign	Het
Cplx1	C	A	5: 108,525,423	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,268,871	I597F	probably damaging	Het
Dnah17	G	T	11: 118,025,653	F4231L	possibly damaging	Het
Dst	T	G	1: 34,117,484	L173R	probably damaging	Het
Fam84b	T	C	15: 60,823,150	D249G	probably damaging	Het
Fezf2	A	T	14: 12,343,687	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,383,410	L247Q	probably damaging	Het
Gm10912	C	T	2: 104,066,852		probably benign	Het
Gpcpd1	A	T	2: 132,534,753	L541H	probably damaging	Het
Gpld1	C	T	13: 24,943,699	T28I	probably damaging	Het
Lmf2	A	T	15: 89,355,406		probably null	Het
Mex3c	A	G	18: 73,590,045	N403S	probably damaging	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Nlrp4c	A	T	7: 6,084,648	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843		noncoding transcript	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Nuggc	T	A	14: 65,617,777		probably benign	Het
Olfr1228	T	C	2: 89,249,698		probably benign	Het
Olfr646	C	T	7: 104,107,053	T258I	possibly damaging	Het
Papolg	T	A	11: 23,890,252	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pdp2	A	G	8: 104,594,904	K462E	possibly damaging	Het
Plod1	A	T	4: 147,913,290	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,198,853	G25*	probably null	Het
Ptch1	T	C	13: 63,511,918	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,217,361	V1034A	probably benign	Het
Rbl2	T	A	8: 91,087,084	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,872,892	T11A	probably benign	Het
Rfc3	A	T	5: 151,642,916	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,416,536	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,428,665	K157E	probably benign	Het
Slc22a17	A	G	14: 54,907,994	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,697,977		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
St14	C	A	9: 31,090,033		probably benign	Het
Sympk	G	A	7: 19,042,625	V481M	probably benign	Het
Timeless	T	A	10: 128,243,334	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ugt3a2	A	T	15: 9,361,456	H106L	probably benign	Het
Zbtb45	A	T	7: 13,006,277	C470*	probably null	Het

Other mutations in Nlrp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Nlrp1b	APN	11	71181181	intron	probably benign
IGL00571:Nlrp1b	APN	11	71163973	missense	probably null	0.48
IGL01358:Nlrp1b	APN	11	71181856	missense	possibly damaging	0.91
IGL01937:Nlrp1b	APN	11	71181407	missense	probably damaging	0.98
IGL01945:Nlrp1b	APN	11	71181407	missense	probably damaging	0.98
IGL02375:Nlrp1b	APN	11	71161680	missense	probably damaging	1.00
IGL02552:Nlrp1b	APN	11	71182052	missense	possibly damaging	0.57
IGL02552:Nlrp1b	APN	11	71172231	missense	possibly damaging	0.96
IGL02833:Nlrp1b	APN	11	71161172	missense	probably benign
IGL02955:Nlrp1b	APN	11	71169811	missense	possibly damaging	0.73
IGL03002:Nlrp1b	APN	11	71168859	missense	probably benign	0.00
IGL03033:Nlrp1b	APN	11	71161839	missense	probably benign	0.22
IGL03122:Nlrp1b	APN	11	71181833	missense	probably benign	0.00
IGL03131:Nlrp1b	APN	11	71161915	missense	possibly damaging	0.82
androcles	UTSW	11	71172075	nonsense	probably null
Fangled	UTSW	11	71172171	missense	possibly damaging	0.94
glitz	UTSW	11	71181550	missense	possibly damaging	0.89
honeydew	UTSW	11	71217884	missense	possibly damaging	0.93
Mush	UTSW	11	71156079	missense	probably damaging	1.00
Thorn	UTSW	11	71156300	splice site	probably benign
R0001:Nlrp1b	UTSW	11	71161759	missense	probably damaging	1.00
R0022:Nlrp1b	UTSW	11	71161929	missense	possibly damaging	0.61
R0022:Nlrp1b	UTSW	11	71161929	missense	possibly damaging	0.61
R0038:Nlrp1b	UTSW	11	71172171	missense	possibly damaging	0.94
R0038:Nlrp1b	UTSW	11	71172171	missense	possibly damaging	0.94
R0164:Nlrp1b	UTSW	11	71164099	missense	probably damaging	1.00
R0164:Nlrp1b	UTSW	11	71164099	missense	probably damaging	1.00
R0271:Nlrp1b	UTSW	11	71161765	missense	possibly damaging	0.51
R0464:Nlrp1b	UTSW	11	71218244	missense	probably damaging	1.00
R0504:Nlrp1b	UTSW	11	71182415	missense	probably damaging	0.99
R0605:Nlrp1b	UTSW	11	71156179	missense	possibly damaging	0.88
R0863:Nlrp1b	UTSW	11	71181347	missense	probably benign	0.00
R1075:Nlrp1b	UTSW	11	71181686	missense	probably benign	0.35
R1221:Nlrp1b	UTSW	11	71181464	missense	probably benign	0.07
R1501:Nlrp1b	UTSW	11	71156059	missense	probably damaging	1.00
R1654:Nlrp1b	UTSW	11	71181298	missense	probably damaging	0.99
R1671:Nlrp1b	UTSW	11	71201259	missense	probably benign	0.45
R1676:Nlrp1b	UTSW	11	71182811	missense	probably benign	0.13
R1694:Nlrp1b	UTSW	11	71216855	critical splice donor site	probably null
R1709:Nlrp1b	UTSW	11	71201273	missense	probably benign	0.11
R1770:Nlrp1b	UTSW	11	71160153	missense	probably benign	0.22
R1775:Nlrp1b	UTSW	11	71161821	missense	probably damaging	1.00
R1851:Nlrp1b	UTSW	11	71182616	missense	possibly damaging	0.96
R1932:Nlrp1b	UTSW	11	71182138	missense	probably damaging	0.96
R2063:Nlrp1b	UTSW	11	71161086	missense	probably benign	0.09
R2189:Nlrp1b	UTSW	11	71169795	missense	probably damaging	1.00
R2223:Nlrp1b	UTSW	11	71155989	splice site	probably benign
R2284:Nlrp1b	UTSW	11	71156284	missense	probably benign	0.00
R2434:Nlrp1b	UTSW	11	71156726	splice site	probably null
R3079:Nlrp1b	UTSW	11	71217968	missense	probably benign	0.27
R3775:Nlrp1b	UTSW	11	71156300	splice site	probably benign
R3980:Nlrp1b	UTSW	11	71181611	missense	possibly damaging	0.56
R4016:Nlrp1b	UTSW	11	71173085	missense	probably damaging	1.00
R4085:Nlrp1b	UTSW	11	71161762	missense	probably damaging	0.98
R4542:Nlrp1b	UTSW	11	71228325	missense	probably damaging	1.00
R4623:Nlrp1b	UTSW	11	71161843	missense	probably benign	0.00
R4726:Nlrp1b	UTSW	11	71181406	missense	probably benign	0.10
R4764:Nlrp1b	UTSW	11	71182663	missense	probably damaging	1.00
R4885:Nlrp1b	UTSW	11	71217884	missense	possibly damaging	0.93
R4910:Nlrp1b	UTSW	11	71217277	missense	probably benign	0.09
R4997:Nlrp1b	UTSW	11	71218334	missense	probably damaging	1.00
R5046:Nlrp1b	UTSW	11	71160072	missense	possibly damaging	0.95
R5126:Nlrp1b	UTSW	11	71181533	missense	possibly damaging	0.67
R5369:Nlrp1b	UTSW	11	71181799	missense	probably benign
R5388:Nlrp1b	UTSW	11	71172141	missense	probably damaging	1.00
R5445:Nlrp1b	UTSW	11	71217875	missense	probably benign	0.21
R5546:Nlrp1b	UTSW	11	71217276	missense	probably benign	0.04
R5567:Nlrp1b	UTSW	11	71181403	missense	probably benign
R5826:Nlrp1b	UTSW	11	71181196	missense	probably benign	0.17
R5955:Nlrp1b	UTSW	11	71217865	missense	probably damaging	1.00
R5995:Nlrp1b	UTSW	11	71181746	missense	probably damaging	1.00
R6059:Nlrp1b	UTSW	11	71217010	missense	possibly damaging	0.53
R6170:Nlrp1b	UTSW	11	71156079	missense	probably damaging	1.00
R6191:Nlrp1b	UTSW	11	71218457	nonsense	probably null
R6250:Nlrp1b	UTSW	11	71181799	missense	probably benign	0.11
R6312:Nlrp1b	UTSW	11	71228397	missense	probably benign	0.38
R6352:Nlrp1b	UTSW	11	71181701	missense	probably damaging	0.99
R6807:Nlrp1b	UTSW	11	71217704	missense	probably damaging	1.00
R6854:Nlrp1b	UTSW	11	71228433	missense	possibly damaging	0.93
R6908:Nlrp1b	UTSW	11	71217296	missense	probably benign
R6938:Nlrp1b	UTSW	11	71218216	missense	probably damaging	1.00
R7098:Nlrp1b	UTSW	11	71218274	missense	possibly damaging	0.89
R7142:Nlrp1b	UTSW	11	71172075	nonsense	probably null
R7149:Nlrp1b	UTSW	11	71181656	nonsense	probably null
R7349:Nlrp1b	UTSW	11	71182117	missense	probably benign	0.36
R7354:Nlrp1b	UTSW	11	71181550	missense	possibly damaging	0.89
R7750:Nlrp1b	UTSW	11	71168839	missense	probably benign	0.11
R7913:Nlrp1b	UTSW	11	71217711	missense	possibly damaging	0.93
R8031:Nlrp1b	UTSW	11	71216921	missense	probably benign	0.15
R8087:Nlrp1b	UTSW	11	71172071	missense	probably benign	0.04
R8164:Nlrp1b	UTSW	11	71228417	missense	possibly damaging	0.78
R8378:Nlrp1b	UTSW	11	71161719	missense	possibly damaging	0.95
R8405:Nlrp1b	UTSW	11	71182530	missense	possibly damaging	0.66
R8441:Nlrp1b	UTSW	11	71182378	missense	probably damaging	1.00
R8792:Nlrp1b	UTSW	11	71160093	missense	probably benign	0.02
R8898:Nlrp1b	UTSW	11	71182462	missense	probably damaging	1.00
R8953:Nlrp1b	UTSW	11	71161806	missense	probably damaging	0.96
R8963:Nlrp1b	UTSW	11	71217832	missense	probably damaging	1.00
R9145:Nlrp1b	UTSW	11	71218367	missense	probably benign
R9184:Nlrp1b	UTSW	11	71181241	missense	probably damaging	1.00
R9286:Nlrp1b	UTSW	11	71169747	missense	probably benign
R9322:Nlrp1b	UTSW	11	71217292	missense	probably benign	0.12
R9453:Nlrp1b	UTSW	11	71182087	missense	probably damaging	0.98
R9533:Nlrp1b	UTSW	11	71218269	missense	probably benign	0.12
R9659:Nlrp1b	UTSW	11	71182306	missense	possibly damaging	0.77
Z1176:Nlrp1b	UTSW	11	71182270	missense	probably damaging	1.00
Z1177:Nlrp1b	UTSW	11	71181299	nonsense	probably null
Z1177:Nlrp1b	UTSW	11	71217224	missense	probably benign	0.03
Z1186:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1186:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1186:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1186:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1186:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1187:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1187:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1187:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1187:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1188:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1188:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1188:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1188:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1189:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1189:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1189:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1189:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1190:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1190:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1190:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1190:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1191:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1191:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1191:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1191:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1192:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1192:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1192:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1192:Nlrp1b	UTSW	11	71182677	missense	probably benign

Posted On

2015-04-16