Incidental Mutation 'R1565:Nlrc4'
| ID |
175235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
Card12, Ipaf, 9530011P19Rik |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
74426295-74459108 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74441931 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 771
(D771E)
|
| 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: D771E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: D771E
| 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 |
0.0718 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,880,501 (GRCm38) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,270,897 (GRCm38) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,268,957 (GRCm38) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,757,318 (GRCm38) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,768,401 (GRCm38) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,785,461 (GRCm38) |
R488Q |
probably benign |
Het |
| Cpxm2 |
A |
T |
7: 132,062,145 (GRCm38) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,303,160 (GRCm38) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,829,614 (GRCm38) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,370,617 (GRCm38) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,602,595 (GRCm38) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,154,662 (GRCm38) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,171 (GRCm38) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm38) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,841,930 (GRCm38) |
T631A |
possibly damaging |
Het |
| Gm13088 |
G |
A |
4: 143,655,617 (GRCm38) |
Q170* |
probably null |
Het |
| Gpld1 |
T |
A |
13: 24,956,068 (GRCm38) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,280,214 (GRCm38) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H2-Ke6 |
C |
T |
17: 34,027,495 (GRCm38) |
V105I |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,820,883 (GRCm38) |
N127S |
probably damaging |
Het |
| Id4 |
G |
T |
13: 48,262,294 (GRCm38) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 52,956,881 (GRCm38) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,242,743 (GRCm38) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,972,384 (GRCm38) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,519,821 (GRCm38) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,887,521 (GRCm38) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,017,582 (GRCm38) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 138,116,405 (GRCm38) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,315,192 (GRCm38) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,132,201 (GRCm38) |
|
probably null |
Het |
| Nup160 |
A |
T |
2: 90,722,061 (GRCm38) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 120,862,600 (GRCm38) |
N91I |
probably damaging |
Het |
| Olfr1225 |
A |
T |
2: 89,170,627 (GRCm38) |
V195D |
probably benign |
Het |
| Olfr1226 |
G |
T |
2: 89,193,883 (GRCm38) |
S50R |
probably damaging |
Het |
| Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,281,900 (GRCm38) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,549 (GRCm38) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,940,526 (GRCm38) |
T394I |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,091,997 (GRCm38) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,939,223 (GRCm38) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 21,925,213 (GRCm38) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,946 (GRCm38) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,980,099 (GRCm38) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,640,632 (GRCm38) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,242,719 (GRCm38) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,934,408 (GRCm38) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,345,877 (GRCm38) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,327,370 (GRCm38) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,950,090 (GRCm38) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,859,914 (GRCm38) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,596,041 (GRCm38) |
S194T |
possibly damaging |
Het |
| Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 160,097,265 (GRCm38) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 99,001,054 (GRCm38) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,268,854 (GRCm38) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,794,261 (GRCm38) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,411,914 (GRCm38) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,607,159 (GRCm38) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,667,594 (GRCm38) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,952,427 (GRCm38) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,853,038 (GRCm38) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,853,039 (GRCm38) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,779,075 (GRCm38) |
D135G |
probably benign |
Het |
|
| Other mutations in Nlrc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Nlrc4
|
APN |
17 |
74,446,534 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00427:Nlrc4
|
APN |
17 |
74,447,092 (GRCm38) |
missense |
probably benign |
|
|
IGL00823:Nlrc4
|
APN |
17 |
74,447,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01404:Nlrc4
|
APN |
17 |
74,445,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02178:Nlrc4
|
APN |
17 |
74,446,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02266:Nlrc4
|
APN |
17 |
74,446,167 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL03342:Nlrc4
|
APN |
17 |
74,445,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Inwood
|
UTSW |
17 |
74,445,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Nlrc4
|
UTSW |
17 |
74,446,309 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4466001:Nlrc4
|
UTSW |
17 |
74,427,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0077:Nlrc4
|
UTSW |
17 |
74,446,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0398:Nlrc4
|
UTSW |
17 |
74,445,920 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0639:Nlrc4
|
UTSW |
17 |
74,426,963 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1498:Nlrc4
|
UTSW |
17 |
74,446,413 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1624:Nlrc4
|
UTSW |
17 |
74,445,189 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R1666:Nlrc4
|
UTSW |
17 |
74,445,906 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1668:Nlrc4
|
UTSW |
17 |
74,445,906 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1690:Nlrc4
|
UTSW |
17 |
74,437,523 (GRCm38) |
nonsense |
probably null |
|
|
R1723:Nlrc4
|
UTSW |
17 |
74,441,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1988:Nlrc4
|
UTSW |
17 |
74,426,943 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1992:Nlrc4
|
UTSW |
17 |
74,445,633 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2141:Nlrc4
|
UTSW |
17 |
74,447,951 (GRCm38) |
splice site |
probably benign |
|
|
R2256:Nlrc4
|
UTSW |
17 |
74,445,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2897:Nlrc4
|
UTSW |
17 |
74,448,045 (GRCm38) |
missense |
probably benign |
|
|
R3117:Nlrc4
|
UTSW |
17 |
74,436,068 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3861:Nlrc4
|
UTSW |
17 |
74,445,621 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4093:Nlrc4
|
UTSW |
17 |
74,445,958 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4212:Nlrc4
|
UTSW |
17 |
74,447,115 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4627:Nlrc4
|
UTSW |
17 |
74,446,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Nlrc4
|
UTSW |
17 |
74,436,037 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4968:Nlrc4
|
UTSW |
17 |
74,446,941 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5133:Nlrc4
|
UTSW |
17 |
74,446,717 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5379:Nlrc4
|
UTSW |
17 |
74,448,083 (GRCm38) |
nonsense |
probably null |
|
|
R6045:Nlrc4
|
UTSW |
17 |
74,446,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6654:Nlrc4
|
UTSW |
17 |
74,445,528 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6712:Nlrc4
|
UTSW |
17 |
74,446,836 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6976:Nlrc4
|
UTSW |
17 |
74,445,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7030:Nlrc4
|
UTSW |
17 |
74,446,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7153:Nlrc4
|
UTSW |
17 |
74,447,103 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7190:Nlrc4
|
UTSW |
17 |
74,445,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7398:Nlrc4
|
UTSW |
17 |
74,446,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7417:Nlrc4
|
UTSW |
17 |
74,446,488 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7468:Nlrc4
|
UTSW |
17 |
74,445,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7639:Nlrc4
|
UTSW |
17 |
74,447,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7716:Nlrc4
|
UTSW |
17 |
74,446,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7757:Nlrc4
|
UTSW |
17 |
74,448,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7868:Nlrc4
|
UTSW |
17 |
74,448,052 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7890:Nlrc4
|
UTSW |
17 |
74,437,508 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7920:Nlrc4
|
UTSW |
17 |
74,427,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7950:Nlrc4
|
UTSW |
17 |
74,445,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8154:Nlrc4
|
UTSW |
17 |
74,445,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8168:Nlrc4
|
UTSW |
17 |
74,445,211 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8311:Nlrc4
|
UTSW |
17 |
74,446,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8716:Nlrc4
|
UTSW |
17 |
74,445,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9502:Nlrc4
|
UTSW |
17 |
74,445,585 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9514:Nlrc4
|
UTSW |
17 |
74,446,741 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0026:Nlrc4
|
UTSW |
17 |
74,446,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTACCTCGGGCCTCC -3'
(R):5'- GGCTCTCCTGCATGATAACTGAAATCTG -3'
Sequencing Primer
(F):5'- aaaaaagagagagagagagagagag -3'
(R):5'- TCTGATTGGTAATAGGAATGACAGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation