Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02823:Nlrp1a'

361098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

71092236-71144704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71092423 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1239 (S1239N)

Ref Sequence

ENSEMBL: ENSMUSP00000038186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048514
AA Change: S1239N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: S1239N

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	4.6e-41	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	742	769	3.04e-5	SMART
low complexity region	856	870	N/A	INTRINSIC
Pfam:FIIND	921	1173	1.6e-102	PFAM
Pfam:CARD	1209	1292	2.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108518
AA Change: S1121N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: S1121N

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	1.1e-40	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	661	688	2.85e1	SMART
LRR	689	716	3.04e-5	SMART
Pfam:FIIND	819	1073	3e-136	PFAM
Pfam:CARD	1091	1174	8.2e-20	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,261,955	S194P	probably damaging	Het
3110043O21Rik	A	T	4: 35,213,031	C215S	probably damaging	Het
Abca7	T	A	10: 80,008,822	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,933,518		probably benign	Het
Atp6ap1l	A	G	13: 90,899,525	V56A	probably benign	Het
Atrip	A	G	9: 109,061,178	Y631H	probably damaging	Het
Dst	A	T	1: 34,192,083	H3097L	possibly damaging	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
Eif2a	G	T	3: 58,548,671	A364S	probably benign	Het
Eps8l2	A	T	7: 141,342,075	D22V	probably damaging	Het
Fam84b	T	C	15: 60,823,123	D258G	probably damaging	Het
Fndc7	A	G	3: 108,869,171	F432S	probably damaging	Het
Gemin5	T	C	11: 58,167,705		probably benign	Het
Grxcr2	T	C	18: 41,991,981	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,614,757	L181P	probably damaging	Het
Ksr1	C	A	11: 79,021,403	V627L	probably benign	Het
Lama2	T	C	10: 27,001,145	N2682D	probably damaging	Het
Map3k19	G	T	1: 127,822,264	H1117N	probably benign	Het
Mdc1	C	T	17: 35,852,923	A1121V	probably damaging	Het
Olfr322	T	C	11: 58,665,967	M136T	possibly damaging	Het
Prkra	G	T	2: 76,630,424	A310E	probably damaging	Het
Prl2c1	T	C	13: 27,856,433		probably benign	Het
Prl7a2	T	C	13: 27,662,751	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,652,747	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,732,213	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,962,477	T149A	probably benign	Het
Slc39a2	T	A	14: 51,895,412	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,340,427	C58*	probably null	Het
Srebf2	G	A	15: 82,199,774	G965D	possibly damaging	Het
Tcof1	T	C	18: 60,816,048	E1265G	probably benign	Het
Terf2	T	C	8: 107,072,625	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,466,464	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,186,904		probably benign	Het

Other mutations in Nlrp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Nlrp1a	APN	11	71092957	missense	probably benign	0.00
IGL00771:Nlrp1a	APN	11	71122741	nonsense	probably null
IGL01408:Nlrp1a	APN	11	71122916	missense	probably benign	0.04
IGL01886:Nlrp1a	APN	11	71123501	missense	probably benign
IGL02221:Nlrp1a	APN	11	71123118	missense	possibly damaging	0.88
IGL02291:Nlrp1a	APN	11	71122589	critical splice donor site	probably null
IGL02375:Nlrp1a	APN	11	71113513	nonsense	probably null
IGL02408:Nlrp1a	APN	11	71122630	missense	probably benign	0.00
IGL02516:Nlrp1a	APN	11	71114460	missense	probably damaging	1.00
IGL02583:Nlrp1a	APN	11	71123401	missense	probably benign	0.03
IGL02622:Nlrp1a	APN	11	71123000	missense	possibly damaging	0.88
IGL02642:Nlrp1a	APN	11	71123532	missense	probably benign	0.12
IGL02859:Nlrp1a	APN	11	71106086	missense	possibly damaging	0.57
IGL02997:Nlrp1a	APN	11	71123665	missense	probably damaging	1.00
IGL03342:Nlrp1a	APN	11	71122791	missense	probably benign	0.19
Ants	UTSW	11	71142338	missense	probably benign	0.01
dreary	UTSW	11	71113640	critical splice acceptor site	probably null
picnic	UTSW	11	71122747	missense	possibly damaging	0.87
seedless	UTSW	11	71123552	missense	probably benign	0.44
watermelon	UTSW	11	71122705	missense	probably benign	0.08
R0022:Nlrp1a	UTSW	11	71123381	missense	probably damaging	0.99
R0345:Nlrp1a	UTSW	11	71123675	missense	probably damaging	1.00
R0360:Nlrp1a	UTSW	11	71114004	intron	probably benign
R0364:Nlrp1a	UTSW	11	71114004	intron	probably benign
R0566:Nlrp1a	UTSW	11	71122942	missense	probably benign	0.00
R1177:Nlrp1a	UTSW	11	71107721	missense	probably damaging	1.00
R1240:Nlrp1a	UTSW	11	71113466	critical splice donor site	probably null
R1263:Nlrp1a	UTSW	11	71097122	missense	probably benign	0.01
R1681:Nlrp1a	UTSW	11	71142358	missense	unknown
R1743:Nlrp1a	UTSW	11	71124206	missense	probably benign	0.04
R1826:Nlrp1a	UTSW	11	71107980	intron	probably benign
R1826:Nlrp1a	UTSW	11	71122747	missense	possibly damaging	0.87
R1981:Nlrp1a	UTSW	11	71098938	missense	probably damaging	1.00
R2083:Nlrp1a	UTSW	11	71124220	missense	possibly damaging	0.59
R2116:Nlrp1a	UTSW	11	71114500	nonsense	probably null
R2134:Nlrp1a	UTSW	11	71124188	missense	probably benign	0.00
R2148:Nlrp1a	UTSW	11	71122907	nonsense	probably null
R2301:Nlrp1a	UTSW	11	71106101	missense	possibly damaging	0.94
R3029:Nlrp1a	UTSW	11	71123630	missense	probably damaging	1.00
R3113:Nlrp1a	UTSW	11	71123665	missense	probably damaging	1.00
R3801:Nlrp1a	UTSW	11	71122703	missense	probably benign	0.08
R3898:Nlrp1a	UTSW	11	71122874	missense	probably benign	0.00
R4254:Nlrp1a	UTSW	11	71123028	nonsense	probably null
R4397:Nlrp1a	UTSW	11	71097204	missense	probably benign	0.00
R4647:Nlrp1a	UTSW	11	71097126	splice site	probably null
R4740:Nlrp1a	UTSW	11	71113640	critical splice acceptor site	probably null
R4965:Nlrp1a	UTSW	11	71092315	missense	possibly damaging	0.94
R5009:Nlrp1a	UTSW	11	71122705	missense	probably benign	0.08
R5103:Nlrp1a	UTSW	11	71099526	missense	probably damaging	0.99
R5355:Nlrp1a	UTSW	11	71124251	missense	probably benign	0.00
R5577:Nlrp1a	UTSW	11	71099574	missense	probably damaging	1.00
R5892:Nlrp1a	UTSW	11	71099645	missense	probably damaging	1.00
R5949:Nlrp1a	UTSW	11	71098989	missense	probably damaging	1.00
R5964:Nlrp1a	UTSW	11	71123020	missense	probably benign	0.00
R6220:Nlrp1a	UTSW	11	71142338	missense	probably benign	0.01
R6564:Nlrp1a	UTSW	11	71123572	missense	probably damaging	1.00
R6586:Nlrp1a	UTSW	11	71106073	missense	probably benign	0.00
R6925:Nlrp1a	UTSW	11	71092513	missense	probably null	0.99
R7013:Nlrp1a	UTSW	11	71123552	missense	probably benign	0.44
R7155:Nlrp1a	UTSW	11	71124079	missense	possibly damaging	0.93
R7214:Nlrp1a	UTSW	11	71123293	missense	probably damaging	1.00
R7268:Nlrp1a	UTSW	11	71124242	missense	probably benign	0.00
R7388:Nlrp1a	UTSW	11	71123197	missense	probably damaging	1.00
R7404:Nlrp1a	UTSW	11	71097093	nonsense	probably null
R7409:Nlrp1a	UTSW	11	71122808	missense	probably benign	0.03
R7410:Nlrp1a	UTSW	11	71123857	missense	probably damaging	0.99
R7440:Nlrp1a	UTSW	11	71092324	missense	probably damaging	0.99
R7447:Nlrp1a	UTSW	11	71092411	missense	probably damaging	1.00
R7450:Nlrp1a	UTSW	11	71107658	missense	probably damaging	1.00
R7569:Nlrp1a	UTSW	11	71109043	missense	probably benign	0.00
R7600:Nlrp1a	UTSW	11	71098914	missense	probably damaging	0.96
R7634:Nlrp1a	UTSW	11	71099528	missense	probably benign	0.19
R7734:Nlrp1a	UTSW	11	71108000	missense	unknown
R7747:Nlrp1a	UTSW	11	71123408	missense	possibly damaging	0.85
X0026:Nlrp1a	UTSW	11	71142316	missense	probably benign	0.18
Z1177:Nlrp1a	UTSW	11	71123169	missense	probably benign	0.27

Posted On

2015-12-18