Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Nlrp1a'

151671

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70983062-71035530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70987948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1174 (I1174T)

Ref Sequence

ENSEMBL: ENSMUSP00000038186 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

probably benign
Transcript: ENSMUST00000048514
AA Change: I1174T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: I1174T

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

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830

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

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	C	11: 109,832,433 (GRCm39)	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 102,994,677 (GRCm39)		probably null	Het
Atp13a4	T	A	16: 29,290,771 (GRCm39)	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,352,534 (GRCm39)	F132C	probably damaging	Het
Btaf1	A	T	19: 36,933,924 (GRCm39)	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,574,918 (GRCm39)	Y590*	probably null	Het
Chi3l1	G	A	1: 134,116,980 (GRCm39)	E315K	probably benign	Het
Col6a6	T	A	9: 105,586,688 (GRCm39)	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,041,521 (GRCm39)	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,431,908 (GRCm39)	T396A	probably benign	Het
Dnaaf6rt	A	T	1: 31,262,296 (GRCm39)	I93F	probably damaging	Het
Dnah6	A	T	6: 73,121,948 (GRCm39)	I1373N	probably damaging	Het
Dop1b	C	A	16: 93,574,274 (GRCm39)	H1598N	probably benign	Het
Erich4	T	A	7: 25,314,559 (GRCm39)	K118M	probably damaging	Het
Gkap1	A	T	13: 58,403,587 (GRCm39)	V179E	probably benign	Het
Gpr107	T	G	2: 31,068,267 (GRCm39)	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,977,504 (GRCm39)	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,549,602 (GRCm39)	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,987,892 (GRCm39)	H266Q	probably benign	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,567,169 (GRCm39)	T423A	probably benign	Het
Mical3	T	C	6: 120,929,430 (GRCm39)	E1812G	probably damaging	Het
Npas2	C	A	1: 39,373,849 (GRCm39)	Q450K	possibly damaging	Het
Nrp1	T	A	8: 129,194,870 (GRCm39)	I442N	probably damaging	Het
Or1j10	T	A	2: 36,267,006 (GRCm39)	S73T	probably damaging	Het
Or2y1	A	T	11: 49,385,848 (GRCm39)	M163L	probably benign	Het
Palld	TGCGTAGCG	TGCG	8: 61,966,491 (GRCm39)		probably null	Het
Pold3	T	A	7: 99,768,890 (GRCm39)	Q36L	possibly damaging	Het
Polg	T	C	7: 79,109,534 (GRCm39)	T428A	probably benign	Het
Rfx7	T	A	9: 72,484,329 (GRCm39)	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,602,177 (GRCm39)	M1R	probably null	Het
Sanbr	A	T	11: 23,570,278 (GRCm39)	Y207*	probably null	Het
Scn10a	T	A	9: 119,446,799 (GRCm39)	T1410S	probably damaging	Het
Serpinb13	T	A	1: 106,928,466 (GRCm39)	V362E	probably damaging	Het
Setdb1	T	C	3: 95,234,922 (GRCm39)	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,539,470 (GRCm39)	K91R	probably benign	Het
Shprh	A	G	10: 11,035,274 (GRCm39)	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Styxl1	G	T	5: 135,782,737 (GRCm39)	S117R	probably damaging	Het
Synj2	T	C	17: 6,069,634 (GRCm39)	F150L	probably damaging	Het
Tep1	C	A	14: 51,082,970 (GRCm39)	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,778,468 (GRCm39)	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,266,093 (GRCm39)	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,506,762 (GRCm39)	I115F	possibly damaging	Het
Trim38	A	G	13: 23,975,117 (GRCm39)	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,250,536 (GRCm39)	V44D	probably benign	Het
Vars2	A	G	17: 35,972,501 (GRCm39)	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,428,584 (GRCm39)	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,027,667 (GRCm39)	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,315,533 (GRCm39)	Y762C	probably benign	Het
Vps13d	T	A	4: 144,896,918 (GRCm39)	Q334L	probably benign	Het
Zfp277	A	T	12: 40,414,164 (GRCm39)	I227N	probably damaging	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
IGL03342:Nlrp1a	APN	11	71,013,617 (GRCm39)	missense	probably benign	0.19
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGCATTGTGAAGAACTGAATAACAG -3'
(R):5'- ACAGTCAGTGTCTAATGTGATGTGCAAG -3'

Sequencing Primer
(F):5'- CAGTGTCATAGTTCAAAGTGGG -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2014-01-29