Incidental Mutation 'R4093:Nlrc4'
ID |
317769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc4
|
Ensembl Gene |
ENSMUSG00000039193 |
Gene Name |
NLR family, CARD domain containing 4 |
Synonyms |
9530011P19Rik, Card12, Ipaf |
MMRRC Submission |
041627-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R4093 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74752953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 477
(M477V)
|
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: M477V
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000059637 Gene: ENSMUSG00000039193 AA Change: M477V
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 |
|
Meta Mutation Damage Score |
0.1290 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
92% (69/75) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTTGCTCAGTGGTATTTCTCAG -3'
(R):5'- AGCATGGGTCCAGCATGAAC -3'
Sequencing Primer
(F):5'- AGACTCTGGATTGATTCCTGC -3'
(R):5'- TCCAGCATGAACGAGGACG -3'
|
Posted On |
2015-05-15 |