Incidental Mutation 'R7398:Nlrc4'
| ID |
573995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
9530011P19Rik, Card12, Ipaf |
| MMRRC Submission |
045480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R7398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74753537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 282
(E282A)
|
| 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: E282A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: E282A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
| Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
| Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
| Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
| Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
| Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
| Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
| Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
| Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
| Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
| Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
| Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
| Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
| Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
| Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,778,845 (GRCm39) |
V445I |
possibly damaging |
Het |
| Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
| Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,927,694 (GRCm39) |
W331* |
probably null |
Het |
| Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
| Styxl2 |
A |
G |
1: 165,928,044 (GRCm39) |
S523P |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
| Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
| Vill |
C |
T |
9: 118,899,716 (GRCm39) |
P767L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,603 (GRCm39) |
N269K |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
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 |
|
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'- GCTTGGAATTCCTGTCTGCC -3'
(R):5'- TACCCGACTTCATCAGCAAG -3'
Sequencing Primer
(F):5'- TGCCCATCTGAATTGCACAGG -3'
(R):5'- GCAAGCCGACCTTCAAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation