Incidental Mutation 'PIT4305001:Nlrc4'
| ID |
554586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrc4
|
| Ensembl Gene |
ENSMUSG00000039193 |
| Gene Name |
NLR family, CARD domain containing 4 |
| Synonyms |
9530011P19Rik, Card12, Ipaf |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
PIT4305001 (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 C
at 74753304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 360
(T360A)
|
| 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: T360A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: T360A
| 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: 93.4%
- 3x: 91.3%
- 10x: 86.8%
- 20x: 76.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
A |
G |
1: 171,086,610 (GRCm39) |
N801D |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,826,721 (GRCm39) |
K661R |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,204 (GRCm39) |
M486K |
probably benign |
Het |
| Arhgap40 |
T |
A |
2: 158,373,825 (GRCm39) |
I202N |
probably benign |
Het |
| C1qtnf2 |
T |
A |
11: 43,382,022 (GRCm39) |
L248Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,306,135 (GRCm39) |
H340L |
probably benign |
Het |
| Cd5 |
A |
G |
19: 10,703,750 (GRCm39) |
V104A |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,785,138 (GRCm39) |
E3032V |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,386 (GRCm39) |
I59T |
probably damaging |
Het |
| Cutc |
G |
T |
19: 43,756,708 (GRCm39) |
A267S |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 18,814,643 (GRCm39) |
Q431R |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,042,738 (GRCm39) |
N3280S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,412,508 (GRCm39) |
N4039I |
probably damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,617,918 (GRCm39) |
I260T |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,927 (GRCm39) |
F307L |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,179,300 (GRCm39) |
S256N |
probably damaging |
Het |
| Dstyk |
G |
T |
1: 132,383,634 (GRCm39) |
E617* |
probably null |
Het |
| Dusp15 |
G |
A |
2: 152,787,396 (GRCm39) |
H72Y |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,077,216 (GRCm39) |
R660* |
probably null |
Het |
| Fbxl13 |
T |
A |
5: 21,727,146 (GRCm39) |
I584L |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,391,407 (GRCm39) |
L16P |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,435,227 (GRCm39) |
A636T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,335,147 (GRCm39) |
T161A |
|
Het |
| Hspg2 |
T |
C |
4: 137,277,684 (GRCm39) |
S2928P |
possibly damaging |
Het |
| Ifi214 |
G |
A |
1: 173,355,485 (GRCm39) |
P108S |
probably benign |
Het |
| Il17ra |
A |
T |
6: 120,458,367 (GRCm39) |
Y506F |
probably damaging |
Het |
| Il9r |
T |
A |
11: 32,144,734 (GRCm39) |
Q53L |
probably benign |
Het |
| Irf2bp2 |
C |
T |
8: 127,319,398 (GRCm39) |
G260R |
probably damaging |
Het |
| Jdp2 |
T |
A |
12: 85,685,626 (GRCm39) |
I129N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,305,249 (GRCm39) |
|
probably null |
Het |
| Klrd1 |
A |
G |
6: 129,573,670 (GRCm39) |
T120A |
unknown |
Het |
| Lfng |
A |
G |
5: 140,598,283 (GRCm39) |
N202D |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,802,095 (GRCm39) |
E757G |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,217,211 (GRCm39) |
P342L |
probably damaging |
Het |
| Lum |
A |
C |
10: 97,404,738 (GRCm39) |
Y211S |
probably damaging |
Het |
| Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
| Or4c1 |
T |
C |
2: 89,133,727 (GRCm39) |
I70V |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,389,357 (GRCm39) |
Y63C |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,638,029 (GRCm39) |
T22K |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,438,036 (GRCm39) |
D1035G |
probably benign |
Het |
| Phf20l1 |
A |
T |
15: 66,484,901 (GRCm39) |
K322I |
possibly damaging |
Het |
| Pik3r3 |
A |
C |
4: 116,149,323 (GRCm39) |
N349T |
probably benign |
Het |
| Poc1a |
A |
G |
9: 106,227,028 (GRCm39) |
Q420R |
|
Het |
| Prl7d1 |
A |
T |
13: 27,898,320 (GRCm39) |
M63K |
possibly damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,662,061 (GRCm39) |
M398I |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,570,203 (GRCm39) |
V1192D |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,001,970 (GRCm39) |
V166A |
|
Het |
| Robo4 |
T |
C |
9: 37,322,687 (GRCm39) |
Y847H |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,118,326 (GRCm39) |
N468S |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,628,345 (GRCm39) |
T553A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,001,976 (GRCm39) |
Y247H |
probably damaging |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Ston2 |
G |
T |
12: 91,615,276 (GRCm39) |
D377E |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,283,023 (GRCm39) |
S1557P |
probably damaging |
Het |
| Syt6 |
C |
T |
3: 103,482,769 (GRCm39) |
R26W |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,066,684 (GRCm39) |
G2305R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,328,771 (GRCm39) |
T637A |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,913,647 (GRCm39) |
F1546Y |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,315,888 (GRCm39) |
D2055G |
possibly damaging |
Het |
| Trim39 |
A |
G |
17: 36,579,862 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trpc7 |
G |
T |
13: 57,035,321 (GRCm39) |
T204K |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,996 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,590 (GRCm39) |
I6K |
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 |
|
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 |
|
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'- TCGTTCATGCTGGACCCATG -3'
(R):5'- AGGCATATCAGACATGTTGGC -3'
Sequencing Primer
(F):5'- CCATGCTCGGGTTCAAAATC -3'
(R):5'- TATCAGACATGTTGGCGCCCTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation