Incidental Mutation 'IGL00771:Nlrp1a'
ID 12380
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: 0.088) question?
Stock # IGL00771
Quality Score
Status
Chromosome 11
Chromosomal Location 70983062-71035530 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 71013567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 561 (L561*)
Ref Sequence ENSEMBL: ENSMUSP00000104158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]
AlphaFold Q2LKU9
Predicted Effect probably null
Transcript: ENSMUST00000048514
AA Change: L561*
SMART Domains Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: L561*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108518
AA Change: L561*
SMART Domains Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: L561*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,452,855 (GRCm39) L28S possibly damaging Het
Abca13 T A 11: 9,240,870 (GRCm39) L911Q probably damaging Het
Armc9 C A 1: 86,127,557 (GRCm39) probably null Het
Asxl2 A G 12: 3,524,560 (GRCm39) H196R probably damaging Het
Atm T C 9: 53,404,354 (GRCm39) D1329G probably benign Het
Cds2 T C 2: 132,146,272 (GRCm39) probably benign Het
Cep295 A T 9: 15,233,861 (GRCm39) C2184S probably damaging Het
Cpeb2 T C 5: 43,394,890 (GRCm39) F623L possibly damaging Het
Dmd G A X: 82,951,978 (GRCm39) probably null Het
F11r T A 1: 171,290,510 (GRCm39) probably null Het
Gbp3 C T 3: 142,271,005 (GRCm39) probably benign Het
Gpc4 A G X: 51,163,527 (GRCm39) S119P possibly damaging Het
H2-M10.2 A G 17: 36,597,288 (GRCm39) L9P probably damaging Het
Ica1l T C 1: 60,053,106 (GRCm39) D144G probably damaging Het
Jaml A G 9: 45,005,105 (GRCm39) K124E possibly damaging Het
Lamc2 T C 1: 153,005,802 (GRCm39) N950S probably benign Het
Ltbp1 A T 17: 75,669,511 (GRCm39) D1099V probably damaging Het
Mlxipl C T 5: 135,161,632 (GRCm39) T517I probably damaging Het
Nbeal1 C T 1: 60,274,512 (GRCm39) R308C probably benign Het
Prom1 A T 5: 44,187,118 (GRCm39) probably benign Het
Ptprc T A 1: 138,041,415 (GRCm39) E148V probably benign Het
Rap1gap T C 4: 137,443,835 (GRCm39) V224A probably damaging Het
Slc7a6 T C 8: 106,905,872 (GRCm39) S35P probably benign Het
Snx17 C T 5: 31,354,679 (GRCm39) R314C probably damaging Het
Spats2l T C 1: 57,982,231 (GRCm39) L371P probably damaging Het
Spsb1 C T 4: 149,991,564 (GRCm39) M1I probably null Het
Sv2a G A 3: 96,100,600 (GRCm39) V661I probably benign Het
Taar7b T A 10: 23,876,096 (GRCm39) V87E probably benign Het
Tcf7l2 G A 19: 55,905,853 (GRCm39) V292I probably damaging Het
Teddm1b T A 1: 153,750,340 (GRCm39) C50S possibly damaging Het
Trmt10a A G 3: 137,856,216 (GRCm39) D159G probably benign Het
Urod T C 4: 116,847,581 (GRCm39) N336S probably damaging Het
Usp8 A G 2: 126,567,353 (GRCm39) probably null Het
Zfp182 A G X: 20,896,896 (GRCm39) Y467H probably damaging Het
Other mutations in Nlrp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Nlrp1a APN 11 70,983,783 (GRCm39) missense probably benign 0.00
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
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 2012-12-06