Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Nlrp1a'

417250

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

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

70983062-71035530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71013617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 544 (D544E)

Ref Sequence

ENSEMBL: ENSMUSP00000104158 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

probably benign
Transcript: ENSMUST00000048514
AA Change: D544E

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: D544E

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: D544E

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: D544E

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Cyp4f15	A	T	17: 32,916,910 (GRCm39)	I276F	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Flg2	A	G	3: 93,108,542 (GRCm39)	K190R	probably damaging	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Hif3a	C	T	7: 16,775,047 (GRCm39)	R515H	possibly damaging	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Mtrf1	T	A	14: 79,653,312 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,653,420 (GRCm39)	D365G	possibly damaging	Het
Mtrf1	C	T	14: 79,653,311 (GRCm39)		probably benign	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Sp2	A	G	11: 96,852,588 (GRCm39)	V112A	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	Het

Other mutations in Nlrp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Nlrp1a	APN	11	70,983,783 (GRCm39)	missense	probably benign	0.00
IGL00771:Nlrp1a	APN	11	71,013,567 (GRCm39)	nonsense	probably null
IGL01408:Nlrp1a	APN	11	71,013,742 (GRCm39)	missense	probably benign	0.04
IGL01886:Nlrp1a	APN	11	71,014,327 (GRCm39)	missense	probably benign
IGL02221:Nlrp1a	APN	11	71,013,944 (GRCm39)	missense	possibly damaging	0.88
IGL02291:Nlrp1a	APN	11	71,013,415 (GRCm39)	critical splice donor site	probably null
IGL02375:Nlrp1a	APN	11	71,004,339 (GRCm39)	nonsense	probably null
IGL02408:Nlrp1a	APN	11	71,013,456 (GRCm39)	missense	probably benign	0.00
IGL02516:Nlrp1a	APN	11	71,005,286 (GRCm39)	missense	probably damaging	1.00
IGL02583:Nlrp1a	APN	11	71,014,227 (GRCm39)	missense	probably benign	0.03
IGL02622:Nlrp1a	APN	11	71,013,826 (GRCm39)	missense	possibly damaging	0.88
IGL02642:Nlrp1a	APN	11	71,014,358 (GRCm39)	missense	probably benign	0.12
IGL02823:Nlrp1a	APN	11	70,983,249 (GRCm39)	missense	probably damaging	0.96
IGL02859:Nlrp1a	APN	11	70,996,912 (GRCm39)	missense	possibly damaging	0.57
IGL02997:Nlrp1a	APN	11	71,014,491 (GRCm39)	missense	probably damaging	1.00
Ants	UTSW	11	71,033,164 (GRCm39)	missense	probably benign	0.01
dreary	UTSW	11	71,004,466 (GRCm39)	critical splice acceptor site	probably null
picnic	UTSW	11	71,013,573 (GRCm39)	missense	possibly damaging	0.87
seedless	UTSW	11	71,014,378 (GRCm39)	missense	probably benign	0.44
watermelon	UTSW	11	71,013,531 (GRCm39)	missense	probably benign	0.08
R0022:Nlrp1a	UTSW	11	71,014,207 (GRCm39)	missense	probably damaging	0.99
R0345:Nlrp1a	UTSW	11	71,014,501 (GRCm39)	missense	probably damaging	1.00
R0360:Nlrp1a	UTSW	11	71,004,830 (GRCm39)	intron	probably benign
R0364:Nlrp1a	UTSW	11	71,004,830 (GRCm39)	intron	probably benign
R0566:Nlrp1a	UTSW	11	71,013,768 (GRCm39)	missense	probably benign	0.00
R1177:Nlrp1a	UTSW	11	70,998,547 (GRCm39)	missense	probably damaging	1.00
R1240:Nlrp1a	UTSW	11	71,004,292 (GRCm39)	critical splice donor site	probably null
R1263:Nlrp1a	UTSW	11	70,987,948 (GRCm39)	missense	probably benign	0.01
R1681:Nlrp1a	UTSW	11	71,033,184 (GRCm39)	missense	unknown
R1743:Nlrp1a	UTSW	11	71,015,032 (GRCm39)	missense	probably benign	0.04
R1826:Nlrp1a	UTSW	11	70,998,806 (GRCm39)	intron	probably benign
R1826:Nlrp1a	UTSW	11	71,013,573 (GRCm39)	missense	possibly damaging	0.87
R1981:Nlrp1a	UTSW	11	70,989,764 (GRCm39)	missense	probably damaging	1.00
R2083:Nlrp1a	UTSW	11	71,015,046 (GRCm39)	missense	possibly damaging	0.59
R2116:Nlrp1a	UTSW	11	71,005,326 (GRCm39)	nonsense	probably null
R2134:Nlrp1a	UTSW	11	71,015,014 (GRCm39)	missense	probably benign	0.00
R2148:Nlrp1a	UTSW	11	71,013,733 (GRCm39)	nonsense	probably null
R2301:Nlrp1a	UTSW	11	70,996,927 (GRCm39)	missense	possibly damaging	0.94
R3029:Nlrp1a	UTSW	11	71,014,456 (GRCm39)	missense	probably damaging	1.00
R3113:Nlrp1a	UTSW	11	71,014,491 (GRCm39)	missense	probably damaging	1.00
R3801:Nlrp1a	UTSW	11	71,013,529 (GRCm39)	missense	probably benign	0.08
R3898:Nlrp1a	UTSW	11	71,013,700 (GRCm39)	missense	probably benign	0.00
R4254:Nlrp1a	UTSW	11	71,013,854 (GRCm39)	nonsense	probably null
R4397:Nlrp1a	UTSW	11	70,988,030 (GRCm39)	missense	probably benign	0.00
R4647:Nlrp1a	UTSW	11	70,987,952 (GRCm39)	splice site	probably null
R4740:Nlrp1a	UTSW	11	71,004,466 (GRCm39)	critical splice acceptor site	probably null
R4965:Nlrp1a	UTSW	11	70,983,141 (GRCm39)	missense	possibly damaging	0.94
R5009:Nlrp1a	UTSW	11	71,013,531 (GRCm39)	missense	probably benign	0.08
R5103:Nlrp1a	UTSW	11	70,990,352 (GRCm39)	missense	probably damaging	0.99
R5355:Nlrp1a	UTSW	11	71,015,077 (GRCm39)	missense	probably benign	0.00
R5577:Nlrp1a	UTSW	11	70,990,400 (GRCm39)	missense	probably damaging	1.00
R5892:Nlrp1a	UTSW	11	70,990,471 (GRCm39)	missense	probably damaging	1.00
R5949:Nlrp1a	UTSW	11	70,989,815 (GRCm39)	missense	probably damaging	1.00
R5964:Nlrp1a	UTSW	11	71,013,846 (GRCm39)	missense	probably benign	0.00
R6220:Nlrp1a	UTSW	11	71,033,164 (GRCm39)	missense	probably benign	0.01
R6564:Nlrp1a	UTSW	11	71,014,398 (GRCm39)	missense	probably damaging	1.00
R6586:Nlrp1a	UTSW	11	70,996,899 (GRCm39)	missense	probably benign	0.00
R6925:Nlrp1a	UTSW	11	70,983,339 (GRCm39)	missense	probably null	0.99
R7013:Nlrp1a	UTSW	11	71,014,378 (GRCm39)	missense	probably benign	0.44
R7155:Nlrp1a	UTSW	11	71,014,905 (GRCm39)	missense	possibly damaging	0.93
R7214:Nlrp1a	UTSW	11	71,014,119 (GRCm39)	missense	probably damaging	1.00
R7268:Nlrp1a	UTSW	11	71,015,068 (GRCm39)	missense	probably benign	0.00
R7388:Nlrp1a	UTSW	11	71,014,023 (GRCm39)	missense	probably damaging	1.00
R7404:Nlrp1a	UTSW	11	70,987,919 (GRCm39)	nonsense	probably null
R7409:Nlrp1a	UTSW	11	71,013,634 (GRCm39)	missense	probably benign	0.03
R7410:Nlrp1a	UTSW	11	71,014,683 (GRCm39)	missense	probably damaging	0.99
R7440:Nlrp1a	UTSW	11	70,983,150 (GRCm39)	missense	probably damaging	0.99
R7447:Nlrp1a	UTSW	11	70,983,237 (GRCm39)	missense	probably damaging	1.00
R7450:Nlrp1a	UTSW	11	70,998,484 (GRCm39)	missense	probably damaging	1.00
R7569:Nlrp1a	UTSW	11	70,999,869 (GRCm39)	missense	probably benign	0.00
R7600:Nlrp1a	UTSW	11	70,989,740 (GRCm39)	missense	probably damaging	0.96
R7634:Nlrp1a	UTSW	11	70,990,354 (GRCm39)	missense	probably benign	0.19
R7734:Nlrp1a	UTSW	11	70,998,826 (GRCm39)	missense	unknown
R7747:Nlrp1a	UTSW	11	71,014,234 (GRCm39)	missense	possibly damaging	0.85
R8471:Nlrp1a	UTSW	11	71,013,885 (GRCm39)	missense	possibly damaging	0.68
R8482:Nlrp1a	UTSW	11	70,999,901 (GRCm39)	splice site	probably null
R9008:Nlrp1a	UTSW	11	71,014,735 (GRCm39)	missense	possibly damaging	0.89
R9028:Nlrp1a	UTSW	11	71,013,819 (GRCm39)	missense	probably benign	0.27
R9441:Nlrp1a	UTSW	11	71,013,934 (GRCm39)	missense	probably damaging	1.00
R9516:Nlrp1a	UTSW	11	70,998,488 (GRCm39)	missense	probably benign	0.05
R9701:Nlrp1a	UTSW	11	70,987,946 (GRCm39)	missense	probably benign	0.08
X0026:Nlrp1a	UTSW	11	71,033,142 (GRCm39)	missense	probably benign	0.18
Z1177:Nlrp1a	UTSW	11	71,013,995 (GRCm39)	missense	probably benign	0.27
Z1186:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1186:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1186:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1186:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1187:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1187:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1188:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1188:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1189:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1189:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1190:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1190:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1191:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1191:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1192:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1192:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign

Posted On

2016-08-02