Incidental Mutation 'R6654:Nlrc4'
| ID |
526575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
9530011P19Rik, Card12, Ipaf |
| MMRRC Submission |
044775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74752523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 620
(A620V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000052124
AA Change: A620V
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: A620V
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
97% (35/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Armc6 |
T |
C |
8: 70,684,025 (GRCm39) |
E9G |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddc |
A |
T |
11: 11,830,452 (GRCm39) |
I64N |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,355,198 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
C |
A |
1: 166,457,956 (GRCm39) |
G466C |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,785,427 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gsta4 |
T |
C |
9: 78,116,381 (GRCm39) |
F197L |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,486 (GRCm39) |
Y649H |
probably damaging |
Het |
| Kif16b |
T |
C |
2: 142,543,197 (GRCm39) |
|
probably benign |
Het |
| Krtap12-1 |
T |
C |
10: 77,556,537 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,927,457 (GRCm39) |
S537N |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,169,713 (GRCm39) |
G1626W |
probably damaging |
Het |
| Mfng |
T |
A |
15: 78,643,539 (GRCm39) |
T223S |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,550 (GRCm39) |
T321A |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,322 (GRCm39) |
I672V |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,533,875 (GRCm39) |
Q1837* |
probably null |
Het |
| Nubpl |
T |
A |
12: 52,357,516 (GRCm39) |
V310E |
probably damaging |
Het |
| Or4p21 |
T |
G |
2: 88,277,016 (GRCm39) |
T89P |
possibly damaging |
Het |
| Or5aq6 |
A |
G |
2: 86,923,394 (GRCm39) |
S116P |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,125,441 (GRCm39) |
L78P |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,738,928 (GRCm39) |
S560T |
probably benign |
Het |
| Pkd1l3 |
T |
G |
8: 110,350,915 (GRCm39) |
S587A |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,002,229 (GRCm39) |
M154L |
unknown |
Het |
| Prkacb |
A |
G |
3: 146,456,298 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,946,833 (GRCm39) |
E1256G |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,788,988 (GRCm39) |
Q611R |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,891,941 (GRCm39) |
D1903G |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,580,619 (GRCm39) |
V291D |
probably damaging |
Het |
| Unc79 |
A |
C |
12: 103,045,307 (GRCm39) |
K685Q |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,045,308 (GRCm39) |
K685I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r112 |
G |
T |
17: 22,822,450 (GRCm39) |
S376I |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,684,640 (GRCm39) |
C35* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,625,828 (GRCm39) |
V14A |
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 |
|
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 |
|
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'- TGGCAGAGCTGAATATCTTCCC -3'
(R):5'- CGTAGAGTGTGGCATCAATTTGTTC -3'
Sequencing Primer
(F):5'- TCCTGCTTCCAGTTGAAG -3'
(R):5'- GGCATCAATTTGTTCTCAGAGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation