Incidental Mutation 'R7868:Nlrc4'
ID |
607943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc4
|
Ensembl Gene |
ENSMUSG00000039193 |
Gene Name |
NLR family, CARD domain containing 4 |
Synonyms |
9530011P19Rik, Card12, Ipaf |
MMRRC Submission |
045920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R7868 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74755047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 56
(H56Q)
|
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: H56Q
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059637 Gene: ENSMUSG00000039193 AA Change: H56Q
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,257 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
G |
5: 114,386,288 (GRCm39) |
E2274G |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,090 (GRCm39) |
I21T |
possibly damaging |
Het |
Aldh3b3 |
C |
T |
19: 4,018,492 (GRCm39) |
R57* |
probably null |
Het |
Arhgap22 |
T |
C |
14: 33,086,473 (GRCm39) |
|
probably benign |
Het |
B4galt5 |
G |
T |
2: 167,143,340 (GRCm39) |
Y361* |
probably null |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bsn |
G |
T |
9: 107,992,098 (GRCm39) |
A1218D |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 76,938,756 (GRCm39) |
D283G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,374 (GRCm39) |
I547F |
probably benign |
Het |
Chdh |
A |
G |
14: 29,753,288 (GRCm39) |
N66D |
probably benign |
Het |
Ckap2l |
T |
A |
2: 129,127,209 (GRCm39) |
Q323L |
probably damaging |
Het |
Cpvl |
T |
A |
6: 53,951,745 (GRCm39) |
I13F |
possibly damaging |
Het |
Creb3l2 |
G |
A |
6: 37,312,804 (GRCm39) |
P410L |
probably damaging |
Het |
Dna2 |
T |
C |
10: 62,805,643 (GRCm39) |
V960A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,384,037 (GRCm39) |
|
probably null |
Het |
Dpysl5 |
A |
T |
5: 30,902,760 (GRCm39) |
D64V |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,091,081 (GRCm39) |
Q1041R |
probably benign |
Het |
Efcab7 |
T |
C |
4: 99,746,154 (GRCm39) |
V242A |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,096,542 (GRCm39) |
R341* |
probably null |
Het |
Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
Fbxo32 |
A |
T |
15: 58,077,986 (GRCm39) |
W8R |
probably damaging |
Het |
Fpgs |
T |
C |
2: 32,573,472 (GRCm39) |
N455D |
probably damaging |
Het |
Fsip1 |
G |
A |
2: 117,966,967 (GRCm39) |
Q453* |
probably null |
Het |
Gm8257 |
T |
A |
14: 44,894,754 (GRCm39) |
E12V |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,572,473 (GRCm39) |
D1029E |
probably benign |
Het |
Lipo4 |
T |
G |
19: 33,488,968 (GRCm39) |
Q205P |
possibly damaging |
Het |
Lpar6 |
A |
T |
14: 73,476,435 (GRCm39) |
N132I |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,339,246 (GRCm39) |
G866S |
|
Het |
Man2c1 |
T |
C |
9: 57,045,270 (GRCm39) |
F460L |
probably damaging |
Het |
Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,699,387 (GRCm39) |
|
probably null |
Het |
Matn1 |
A |
G |
4: 130,682,311 (GRCm39) |
E496G |
probably damaging |
Het |
Mfsd2a |
A |
T |
4: 122,850,648 (GRCm39) |
V76E |
possibly damaging |
Het |
Mmut |
C |
T |
17: 41,257,934 (GRCm39) |
R367C |
probably damaging |
Het |
Mtpap |
A |
G |
18: 4,380,673 (GRCm39) |
E117G |
probably damaging |
Het |
Muc17 |
T |
A |
5: 137,175,625 (GRCm39) |
N15I |
|
Het |
Ndufa10 |
A |
G |
1: 92,388,169 (GRCm39) |
Y275H |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,097,446 (GRCm39) |
R785C |
possibly damaging |
Het |
Nsun4 |
C |
A |
4: 115,891,329 (GRCm39) |
C350F |
probably benign |
Het |
Or10x1 |
A |
G |
1: 174,196,551 (GRCm39) |
T23A |
probably benign |
Het |
Or51f23b |
A |
G |
7: 102,402,812 (GRCm39) |
L108P |
possibly damaging |
Het |
Or8g2 |
T |
A |
9: 39,821,282 (GRCm39) |
F61Y |
probably benign |
Het |
Or9s14 |
G |
A |
1: 92,536,237 (GRCm39) |
G226D |
possibly damaging |
Het |
Pdcd7 |
T |
A |
9: 65,254,261 (GRCm39) |
C280S |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,167,754 (GRCm39) |
T58K |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,108,353 (GRCm39) |
E573G |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,154 (GRCm39) |
H138R |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,000,963 (GRCm39) |
A1018T |
not run |
Het |
Ralgapa1 |
G |
T |
12: 55,659,423 (GRCm39) |
D2032E |
probably benign |
Het |
Rapgef4 |
T |
A |
2: 72,031,481 (GRCm39) |
N488K |
probably benign |
Het |
Slc1a2 |
A |
G |
2: 102,591,530 (GRCm39) |
D420G |
probably benign |
Het |
Smyd5 |
T |
A |
6: 85,421,297 (GRCm39) |
L337Q |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,555,587 (GRCm39) |
R2764H |
possibly damaging |
Het |
Tex35 |
A |
T |
1: 156,926,908 (GRCm39) |
Y195* |
probably null |
Het |
Tln2 |
T |
C |
9: 67,255,508 (GRCm39) |
K690E |
probably damaging |
Het |
Trpc4 |
A |
G |
3: 54,209,707 (GRCm39) |
T691A |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,791,158 (GRCm39) |
F246I |
possibly damaging |
Het |
Ttn |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
2: 76,746,150 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,187,344 (GRCm39) |
Y669F |
unknown |
Het |
Uox |
A |
C |
3: 146,316,029 (GRCm39) |
D12A |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
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 |
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 |
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'- AAGCTCCATGGAAGGGACTG -3'
(R):5'- AGCTCTGATGCACTGGTAAGAG -3'
Sequencing Primer
(F):5'- CCATGGAAGGGACTGTGGGTATTC -3'
(R):5'- CTCTGATGCACTGGTAAGAGATATG -3'
|
Posted On |
2019-12-20 |