Incidental Mutation 'R1723:Nlrc4'
| ID |
191641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
9530011P19Rik, Card12, Ipaf |
| MMRRC Submission |
039755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74748903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 779
(D779V)
|
| 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: D779V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: D779V
| 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 |
0.1313 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,051,551 (GRCm39) |
K1152I |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
| Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
| Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,519 (GRCm39) |
D728G |
probably damaging |
Het |
| Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
| Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
| Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
| Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
| Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,880,909 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
| Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
| Uckl1 |
T |
A |
2: 181,212,393 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
| Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTACCTCGGGCCTCC -3'
(R):5'- AGGAATGACAGTGATGGTAACCAATGAC -3'
Sequencing Primer
(F):5'- aaaaaagagagagagagagagagag -3'
(R):5'- ATGACCGCATCCTGGAAGTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation