Incidental Mutation 'R1988:Nlrc4'
ID |
222928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrc4
|
Ensembl Gene |
ENSMUSG00000039193 |
Gene Name |
NLR family, CARD domain containing 4 |
Synonyms |
9530011P19Rik, Card12, Ipaf |
MMRRC Submission |
040000-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1988 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
74733254-74766140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74733938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 992
(S992T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024870]
[ENSMUST00000052124]
[ENSMUST00000179074]
|
AlphaFold |
Q3UP24 |
PDB Structure |
Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000024870
|
SMART Domains |
Protein: ENSMUSP00000024870 Gene: ENSMUSG00000024069
Domain | Start | End | E-Value | Type |
Pfam:Cation_efflux
|
34 |
336 |
6.9e-45 |
PFAM |
low complexity region
|
371 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052124
AA Change: S992T
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000059637 Gene: ENSMUSG00000039193 AA Change: S992T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179074
|
SMART Domains |
Protein: ENSMUSP00000136503 Gene: ENSMUSG00000024069
Domain | Start | End | E-Value | Type |
Pfam:Cation_efflux
|
34 |
260 |
5.7e-30 |
PFAM |
low complexity region
|
376 |
397 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0933 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
96% (79/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,394 (GRCm39) |
D216V |
possibly damaging |
Het |
2610021A01Rik |
C |
T |
7: 41,276,081 (GRCm39) |
R595* |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,836,414 (GRCm39) |
D724G |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
Akt1 |
T |
C |
12: 112,621,585 (GRCm39) |
I404V |
probably benign |
Het |
Anxa13 |
T |
A |
15: 58,205,344 (GRCm39) |
|
noncoding transcript |
Het |
Atoh1 |
T |
C |
6: 64,706,617 (GRCm39) |
V104A |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,822,437 (GRCm39) |
D1256G |
probably damaging |
Het |
C9 |
ATTTT |
ATTT |
15: 6,512,619 (GRCm39) |
|
probably null |
Het |
Cd164 |
A |
G |
10: 41,399,177 (GRCm39) |
T89A |
probably benign |
Het |
Cep350 |
G |
C |
1: 155,808,850 (GRCm39) |
N575K |
possibly damaging |
Het |
Chrm5 |
A |
G |
2: 112,310,597 (GRCm39) |
V173A |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,468,572 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,204 (GRCm39) |
T801A |
probably damaging |
Het |
Cntnap5b |
A |
C |
1: 99,999,865 (GRCm39) |
K208Q |
possibly damaging |
Het |
Crx |
A |
T |
7: 15,603,272 (GRCm39) |
V107D |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,387,321 (GRCm39) |
F49S |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,408,248 (GRCm39) |
L228P |
possibly damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,616 (GRCm39) |
D626E |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,569 (GRCm39) |
T82A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,566,793 (GRCm39) |
T2478S |
possibly damaging |
Het |
Dnah3 |
T |
G |
7: 119,567,182 (GRCm39) |
D2348A |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,069,175 (GRCm39) |
I2504T |
probably damaging |
Het |
Dnase1l2 |
A |
C |
17: 24,660,625 (GRCm39) |
W138G |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,563,061 (GRCm39) |
I855N |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,098,903 (GRCm39) |
N759Y |
possibly damaging |
Het |
Dtx2 |
C |
T |
5: 136,061,147 (GRCm39) |
R510* |
probably null |
Het |
Fat4 |
G |
T |
3: 38,941,264 (GRCm39) |
M52I |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,050,239 (GRCm39) |
E4034K |
probably damaging |
Het |
Fezf2 |
T |
C |
14: 12,344,350 (GRCm38) |
K279R |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,806,861 (GRCm39) |
W1060L |
possibly damaging |
Het |
G6pc1 |
T |
A |
11: 101,258,768 (GRCm39) |
I49N |
probably damaging |
Het |
Gars1 |
A |
G |
6: 55,054,757 (GRCm39) |
E688G |
probably null |
Het |
Gdf11 |
T |
C |
10: 128,721,111 (GRCm39) |
N361S |
probably benign |
Het |
Gli3 |
A |
C |
13: 15,900,965 (GRCm39) |
M1451L |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,876,945 (GRCm39) |
I329T |
probably benign |
Het |
Herc3 |
T |
G |
6: 58,861,960 (GRCm39) |
|
probably null |
Het |
Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,080,002 (GRCm39) |
R513W |
probably damaging |
Het |
Kif7 |
G |
T |
7: 79,348,989 (GRCm39) |
H1195Q |
probably benign |
Het |
Lpcat4 |
T |
C |
2: 112,072,887 (GRCm39) |
V182A |
possibly damaging |
Het |
Map3k21 |
T |
A |
8: 126,654,294 (GRCm39) |
I371N |
probably benign |
Het |
Mns1 |
G |
A |
9: 72,356,041 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
G |
2: 22,468,140 (GRCm39) |
T465A |
possibly damaging |
Het |
Notch4 |
G |
A |
17: 34,806,562 (GRCm39) |
G1833E |
possibly damaging |
Het |
Or52ad1 |
T |
A |
7: 102,995,316 (GRCm39) |
Y273F |
possibly damaging |
Het |
Or52n2 |
T |
C |
7: 104,542,110 (GRCm39) |
T242A |
probably damaging |
Het |
Or5g29 |
G |
A |
2: 85,420,985 (GRCm39) |
V34I |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,413,907 (GRCm39) |
I39L |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,993 (GRCm39) |
I194K |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pik3cd |
T |
A |
4: 149,747,660 (GRCm39) |
T28S |
probably damaging |
Het |
Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
Ppm1f |
T |
C |
16: 16,741,530 (GRCm39) |
S335P |
probably damaging |
Het |
Prr16 |
C |
T |
18: 51,436,349 (GRCm39) |
P276L |
probably damaging |
Het |
Rilp |
A |
G |
11: 75,401,759 (GRCm39) |
|
probably null |
Het |
Rspry1 |
A |
G |
8: 95,358,682 (GRCm39) |
|
probably null |
Het |
Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
Smyd5 |
T |
C |
6: 85,415,118 (GRCm39) |
I42T |
possibly damaging |
Het |
Stk17b |
T |
C |
1: 53,800,241 (GRCm39) |
N246D |
probably damaging |
Het |
Suco |
T |
C |
1: 161,646,380 (GRCm39) |
|
probably null |
Het |
Tecpr1 |
C |
T |
5: 144,141,515 (GRCm39) |
V785M |
possibly damaging |
Het |
Telo2 |
C |
T |
17: 25,320,642 (GRCm39) |
V756I |
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,943,034 (GRCm39) |
R602H |
probably benign |
Het |
Timeless |
A |
G |
10: 128,080,056 (GRCm39) |
T402A |
probably damaging |
Het |
Tnfaip2 |
T |
A |
12: 111,416,325 (GRCm39) |
|
probably null |
Het |
Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,828 (GRCm39) |
S414P |
probably damaging |
Het |
Txnip |
A |
G |
3: 96,467,066 (GRCm39) |
T247A |
possibly damaging |
Het |
Vmn1r174 |
A |
T |
7: 23,454,050 (GRCm39) |
T239S |
probably damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,887,480 (GRCm39) |
N982K |
probably benign |
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 |
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'- AAACTCGTTTCTCAAGCCAATTCC -3'
(R):5'- GAGAGACTTGCAGCAGTTGG -3'
Sequencing Primer
(F):5'- AATGTTGGATCCCCTGGAAC -3'
(R):5'- AGACTTGCAGCAGTTGGATTTAGC -3'
|
Posted On |
2014-08-25 |