Incidental Mutation 'IGL00427:Nlrc4'
| ID |
3422 |
| 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: 0.151)
|
| Stock # |
IGL00427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74754087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 99
(N99D)
|
| 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 benign
Transcript: ENSMUST00000052124
AA Change: N99D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: N99D
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,244,357 (GRCm39) |
D289G |
probably damaging |
Het |
| Adnp |
C |
T |
2: 168,024,482 (GRCm39) |
D938N |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,577,423 (GRCm39) |
N208I |
probably benign |
Het |
| Cby3 |
A |
G |
11: 50,248,638 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,497 (GRCm39) |
I246N |
probably damaging |
Het |
| Cnih4 |
T |
A |
1: 180,981,312 (GRCm39) |
S28T |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,558 (GRCm39) |
V97L |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,407,631 (GRCm39) |
E2067G |
probably damaging |
Het |
| Dennd6a |
C |
T |
14: 26,329,768 (GRCm39) |
T113I |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,882,305 (GRCm39) |
F1590L |
possibly damaging |
Het |
| Dop1a |
G |
T |
9: 86,403,553 (GRCm39) |
Q1582H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,403,552 (GRCm39) |
Q1582L |
probably damaging |
Het |
| Dop1a |
C |
A |
9: 86,403,551 (GRCm39) |
Q1582K |
possibly damaging |
Het |
| Ebna1bp2 |
A |
T |
4: 118,483,018 (GRCm39) |
K291M |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,125,331 (GRCm39) |
Q73K |
probably benign |
Het |
| Fam131b |
G |
T |
6: 42,295,895 (GRCm39) |
T139K |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,368,753 (GRCm39) |
T1358A |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,484 (GRCm39) |
D265N |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,538,622 (GRCm39) |
N333S |
probably benign |
Het |
| Igkv17-134 |
A |
T |
6: 67,697,968 (GRCm39) |
|
probably benign |
Het |
| Il16 |
T |
C |
7: 83,301,666 (GRCm39) |
D152G |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,806,766 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
C |
T |
10: 77,393,790 (GRCm39) |
T410I |
probably benign |
Het |
| Kctd14 |
C |
A |
7: 97,106,919 (GRCm39) |
A111E |
possibly damaging |
Het |
| Lmod3 |
A |
C |
6: 97,229,258 (GRCm39) |
V92G |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,070,973 (GRCm39) |
D83G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,691 (GRCm39) |
E1682G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,750,342 (GRCm39) |
|
probably benign |
Het |
| P2rx3 |
A |
G |
2: 84,865,616 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pcsk7 |
C |
A |
9: 45,838,958 (GRCm39) |
D623E |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,980 (GRCm39) |
I1766T |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,885,353 (GRCm39) |
Y691C |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,856,108 (GRCm39) |
T17S |
probably damaging |
Het |
| Rtraf-ps |
A |
C |
3: 88,484,230 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,804,162 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
G |
9: 75,570,519 (GRCm39) |
K345T |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,099,200 (GRCm39) |
K238N |
probably benign |
Het |
| Slc38a9 |
T |
A |
13: 112,838,152 (GRCm39) |
S306T |
probably damaging |
Het |
| Txndc16 |
A |
G |
14: 45,382,547 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,243 (GRCm39) |
Y57F |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,501 (GRCm39) |
S548T |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,247,309 (GRCm39) |
|
probably null |
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 |
|
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 |
|
IGL02178:Nlrc4
|
APN |
17 |
74,753,838 (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 |
2012-04-20 |
Incidental Mutation