Incidental Mutation 'IGL02178:Nlrc4'
ID |
283208 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nlrc4
|
Ensembl Gene |
ENSMUSG00000039193 |
Gene Name |
NLR family, CARD domain containing 4 |
Synonyms |
9530011P19Rik, Card12, Ipaf |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
IGL02178
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74753838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 182
(I182V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052124]
|
AlphaFold |
Q3UP24 |
PDB Structure |
Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052124
AA Change: I182V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059637 Gene: ENSMUSG00000039193 AA Change: I182V
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
1 |
87 |
1.4e-20 |
PFAM |
Pfam:NACHT
|
163 |
314 |
1.3e-28 |
PFAM |
SCOP:d1yrga_
|
734 |
1015 |
3e-20 |
SMART |
|
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 caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection. [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 |
3425401B19Rik |
T |
A |
14: 32,384,418 (GRCm39) |
T516S |
possibly damaging |
Het |
6820408C15Rik |
T |
C |
2: 152,269,921 (GRCm39) |
|
probably benign |
Het |
Ak5 |
T |
C |
3: 152,232,422 (GRCm39) |
D331G |
probably benign |
Het |
Ar |
A |
G |
X: 97,349,044 (GRCm39) |
D675G |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,179 (GRCm39) |
D276G |
probably benign |
Het |
Arhgef3 |
C |
T |
14: 26,987,486 (GRCm39) |
R40* |
probably null |
Het |
Atp1b4 |
G |
T |
X: 37,421,695 (GRCm39) |
R293L |
possibly damaging |
Het |
Borcs8 |
T |
C |
8: 70,617,897 (GRCm39) |
L85P |
probably damaging |
Het |
Carmil1 |
T |
G |
13: 24,278,386 (GRCm39) |
K194N |
probably damaging |
Het |
Catsper4 |
T |
A |
4: 133,954,637 (GRCm39) |
K4N |
probably benign |
Het |
Ccdc30 |
T |
C |
4: 119,206,921 (GRCm39) |
|
probably benign |
Het |
Cd101 |
A |
G |
3: 100,901,082 (GRCm39) |
S997P |
probably damaging |
Het |
Cdkl5 |
G |
A |
X: 159,599,889 (GRCm39) |
T792I |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,743,321 (GRCm39) |
Y185C |
probably damaging |
Het |
Clcn5 |
A |
G |
X: 7,052,563 (GRCm39) |
Y59H |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,546,909 (GRCm39) |
I771N |
unknown |
Het |
Crispld1 |
C |
T |
1: 17,832,327 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,825,718 (GRCm39) |
I128T |
possibly damaging |
Het |
Gga1 |
T |
A |
15: 78,776,247 (GRCm39) |
M430K |
probably benign |
Het |
Has2 |
A |
G |
15: 56,545,456 (GRCm39) |
Y49H |
probably damaging |
Het |
Ivd |
A |
G |
2: 118,701,915 (GRCm39) |
I116V |
probably benign |
Het |
Krt75 |
T |
C |
15: 101,481,226 (GRCm39) |
N183D |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,790,611 (GRCm39) |
I314N |
probably damaging |
Het |
Map6d1 |
T |
G |
16: 20,055,448 (GRCm39) |
E129D |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,296,146 (GRCm39) |
V145A |
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,359,184 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,461,802 (GRCm39) |
F1416L |
probably benign |
Het |
Or5b21 |
T |
A |
19: 12,839,907 (GRCm39) |
I256N |
possibly damaging |
Het |
Or7a35 |
T |
C |
10: 78,853,554 (GRCm39) |
Y133H |
possibly damaging |
Het |
Phc3 |
T |
C |
3: 30,984,012 (GRCm39) |
T668A |
possibly damaging |
Het |
Pheta2 |
T |
A |
15: 82,227,527 (GRCm39) |
D15E |
possibly damaging |
Het |
Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
Prkcq |
A |
C |
2: 11,281,851 (GRCm39) |
Y460S |
possibly damaging |
Het |
Prmt8 |
T |
A |
6: 127,674,770 (GRCm39) |
E286V |
probably benign |
Het |
Ptprb |
A |
T |
10: 116,158,437 (GRCm39) |
M503L |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,522,180 (GRCm39) |
D590E |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,604,033 (GRCm39) |
S196R |
possibly damaging |
Het |
Ryr3 |
A |
G |
2: 112,656,144 (GRCm39) |
Y1951H |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,538,258 (GRCm39) |
|
probably null |
Het |
Sde2 |
T |
G |
1: 180,678,796 (GRCm39) |
L20R |
possibly damaging |
Het |
Slco1a5 |
A |
T |
6: 142,208,414 (GRCm39) |
C81* |
probably null |
Het |
Snx2 |
A |
G |
18: 53,332,857 (GRCm39) |
E177G |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,927,783 (GRCm39) |
V667D |
probably damaging |
Het |
Tas2r115 |
T |
C |
6: 132,714,271 (GRCm39) |
T227A |
probably benign |
Het |
Tmed9 |
A |
G |
13: 55,741,108 (GRCm39) |
H41R |
possibly damaging |
Het |
Vmn1r35 |
T |
G |
6: 66,656,086 (GRCm39) |
S28R |
probably damaging |
Het |
Vmn2r110 |
A |
C |
17: 20,804,706 (GRCm39) |
|
probably null |
Het |
Vstm2l |
T |
C |
2: 157,777,337 (GRCm39) |
Y72H |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Zbtb4 |
A |
T |
11: 69,667,255 (GRCm39) |
R187* |
probably null |
Het |
Zfp598 |
A |
G |
17: 24,896,517 (GRCm39) |
D198G |
probably damaging |
Het |
Zp2 |
G |
T |
7: 119,732,973 (GRCm39) |
A629E |
possibly damaging |
Het |
|
Other mutations in Nlrc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Nlrc4
|
APN |
17 |
74,753,529 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00427:Nlrc4
|
APN |
17 |
74,754,087 (GRCm39) |
missense |
probably benign |
|
IGL00823:Nlrc4
|
APN |
17 |
74,754,985 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01404:Nlrc4
|
APN |
17 |
74,752,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Nlrc4
|
APN |
17 |
74,753,162 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03342:Nlrc4
|
APN |
17 |
74,752,313 (GRCm39) |
missense |
probably damaging |
1.00 |
Inwood
|
UTSW |
17 |
74,752,625 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Nlrc4
|
UTSW |
17 |
74,753,304 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4466001:Nlrc4
|
UTSW |
17 |
74,734,114 (GRCm39) |
missense |
probably benign |
0.01 |
R0077:Nlrc4
|
UTSW |
17 |
74,753,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Nlrc4
|
UTSW |
17 |
74,752,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R0639:Nlrc4
|
UTSW |
17 |
74,733,958 (GRCm39) |
missense |
probably benign |
0.16 |
R1498:Nlrc4
|
UTSW |
17 |
74,753,408 (GRCm39) |
missense |
probably benign |
0.43 |
R1565:Nlrc4
|
UTSW |
17 |
74,748,926 (GRCm39) |
missense |
probably benign |
0.00 |
R1624:Nlrc4
|
UTSW |
17 |
74,752,184 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1666:Nlrc4
|
UTSW |
17 |
74,752,901 (GRCm39) |
missense |
probably damaging |
0.97 |
R1668:Nlrc4
|
UTSW |
17 |
74,752,901 (GRCm39) |
missense |
probably damaging |
0.97 |
R1690:Nlrc4
|
UTSW |
17 |
74,744,518 (GRCm39) |
nonsense |
probably null |
|
R1723:Nlrc4
|
UTSW |
17 |
74,748,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Nlrc4
|
UTSW |
17 |
74,733,938 (GRCm39) |
missense |
probably benign |
0.09 |
R1992:Nlrc4
|
UTSW |
17 |
74,752,628 (GRCm39) |
missense |
probably benign |
0.04 |
R2141:Nlrc4
|
UTSW |
17 |
74,754,946 (GRCm39) |
splice site |
probably benign |
|
R2256:Nlrc4
|
UTSW |
17 |
74,752,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Nlrc4
|
UTSW |
17 |
74,755,040 (GRCm39) |
missense |
probably benign |
|
R3117:Nlrc4
|
UTSW |
17 |
74,743,063 (GRCm39) |
missense |
probably benign |
0.00 |
R3861:Nlrc4
|
UTSW |
17 |
74,752,616 (GRCm39) |
missense |
probably benign |
0.00 |
R4093:Nlrc4
|
UTSW |
17 |
74,752,953 (GRCm39) |
missense |
probably benign |
0.20 |
R4212:Nlrc4
|
UTSW |
17 |
74,754,110 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4627:Nlrc4
|
UTSW |
17 |
74,753,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Nlrc4
|
UTSW |
17 |
74,743,032 (GRCm39) |
missense |
probably damaging |
0.97 |
R4968:Nlrc4
|
UTSW |
17 |
74,753,936 (GRCm39) |
missense |
probably benign |
0.20 |
R5133:Nlrc4
|
UTSW |
17 |
74,753,712 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5379:Nlrc4
|
UTSW |
17 |
74,755,078 (GRCm39) |
nonsense |
probably null |
|
R6045:Nlrc4
|
UTSW |
17 |
74,753,954 (GRCm39) |
missense |
probably damaging |
0.98 |
R6654:Nlrc4
|
UTSW |
17 |
74,752,523 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6712:Nlrc4
|
UTSW |
17 |
74,753,831 (GRCm39) |
missense |
probably damaging |
0.96 |
R6976:Nlrc4
|
UTSW |
17 |
74,752,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Nlrc4
|
UTSW |
17 |
74,753,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Nlrc4
|
UTSW |
17 |
74,754,098 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7190:Nlrc4
|
UTSW |
17 |
74,752,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Nlrc4
|
UTSW |
17 |
74,753,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Nlrc4
|
UTSW |
17 |
74,753,483 (GRCm39) |
missense |
probably benign |
0.18 |
R7468:Nlrc4
|
UTSW |
17 |
74,752,507 (GRCm39) |
missense |
probably benign |
0.00 |
R7639:Nlrc4
|
UTSW |
17 |
74,754,952 (GRCm39) |
critical splice donor site |
probably null |
|
R7716:Nlrc4
|
UTSW |
17 |
74,753,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Nlrc4
|
UTSW |
17 |
74,755,191 (GRCm39) |
missense |
probably benign |
0.00 |
R7868:Nlrc4
|
UTSW |
17 |
74,755,047 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7890:Nlrc4
|
UTSW |
17 |
74,744,503 (GRCm39) |
missense |
probably benign |
0.00 |
R7920:Nlrc4
|
UTSW |
17 |
74,734,114 (GRCm39) |
missense |
probably benign |
0.01 |
R7950:Nlrc4
|
UTSW |
17 |
74,752,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Nlrc4
|
UTSW |
17 |
74,752,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8168:Nlrc4
|
UTSW |
17 |
74,752,206 (GRCm39) |
missense |
probably benign |
0.01 |
R8311:Nlrc4
|
UTSW |
17 |
74,753,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Nlrc4
|
UTSW |
17 |
74,752,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Nlrc4
|
UTSW |
17 |
74,752,580 (GRCm39) |
missense |
probably benign |
0.37 |
R9514:Nlrc4
|
UTSW |
17 |
74,753,736 (GRCm39) |
missense |
probably benign |
0.03 |
X0026:Nlrc4
|
UTSW |
17 |
74,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |