Incidental Mutation 'R5552:Nod1'
| ID |
435174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nod1
|
| Ensembl Gene |
ENSMUSG00000038058 |
| Gene Name |
nucleotide-binding oligomerization domain containing 1 |
| Synonyms |
Card4, F830007N14Rik, Nlrc1 |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
54900934-54949597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54921616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 234
(F234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060655]
[ENSMUST00000168172]
[ENSMUST00000203076]
[ENSMUST00000203837]
|
| AlphaFold |
Q8BHB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060655
AA Change: F234S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: F234S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
Pfam:CARD
|
20 |
105 |
4.7e-21 |
PFAM |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
196 |
368 |
1.3e-41 |
PFAM |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
717 |
N/A |
INTRINSIC |
|
LRR
|
727 |
754 |
1.25e0 |
SMART |
|
LRR
|
755 |
782 |
1.22e1 |
SMART |
|
LRR
|
783 |
810 |
1.96e2 |
SMART |
|
LRR
|
811 |
838 |
1.08e-1 |
SMART |
|
LRR
|
839 |
866 |
3.95e-4 |
SMART |
|
LRR
|
867 |
894 |
1.51e0 |
SMART |
|
LRR
|
895 |
922 |
7.15e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168172
AA Change: F234S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: F234S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
Pfam:CARD
|
20 |
105 |
7.6e-20 |
PFAM |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
196 |
368 |
6.2e-41 |
PFAM |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
717 |
N/A |
INTRINSIC |
|
LRR
|
727 |
754 |
1.25e0 |
SMART |
|
LRR
|
755 |
782 |
1.22e1 |
SMART |
|
LRR
|
783 |
810 |
1.96e2 |
SMART |
|
LRR
|
811 |
838 |
1.08e-1 |
SMART |
|
LRR
|
839 |
866 |
3.95e-4 |
SMART |
|
LRR
|
867 |
894 |
1.51e0 |
SMART |
|
LRR
|
895 |
922 |
7.15e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203076
|
| SMART Domains |
Protein: ENSMUSP00000145123
Gene: ENSMUSG00000038058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
91 |
N/A |
INTRINSIC |
|
LRR
|
101 |
128 |
5.3e-3 |
SMART |
|
LRR
|
157 |
184 |
4.8e-4 |
SMART |
|
LRR
|
185 |
212 |
1.7e-6 |
SMART |
|
LRR
|
213 |
240 |
6.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203837
|
| SMART Domains |
Protein: ENSMUSP00000145005
Gene: ENSMUSG00000038058
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
PDB:2NZ7|B
|
13 |
52 |
4e-14 |
PDB |
|
Blast:CARD
|
17 |
52 |
1e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205242
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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 NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice were viable, fertile, and appeared normal in a specific-pathogen free environment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Nod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Nod1
|
APN |
6 |
54,921,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00937:Nod1
|
APN |
6 |
54,914,349 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00945:Nod1
|
APN |
6 |
54,921,571 (GRCm39) |
splice site |
probably null |
|
|
IGL01410:Nod1
|
APN |
6 |
54,921,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02094:Nod1
|
APN |
6 |
54,916,375 (GRCm39) |
splice site |
probably null |
|
|
IGL02217:Nod1
|
APN |
6 |
54,920,404 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02573:Nod1
|
APN |
6 |
54,920,930 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02944:Nod1
|
APN |
6 |
54,901,932 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0092:Nod1
|
UTSW |
6 |
54,921,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Nod1
|
UTSW |
6 |
54,920,734 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0148:Nod1
|
UTSW |
6 |
54,915,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0771:Nod1
|
UTSW |
6 |
54,921,254 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1493:Nod1
|
UTSW |
6 |
54,921,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Nod1
|
UTSW |
6 |
54,920,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1660:Nod1
|
UTSW |
6 |
54,921,218 (GRCm39) |
splice site |
probably null |
|
|
R1710:Nod1
|
UTSW |
6 |
54,921,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1911:Nod1
|
UTSW |
6 |
54,921,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2008:Nod1
|
UTSW |
6 |
54,916,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Nod1
|
UTSW |
6 |
54,921,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3410:Nod1
|
UTSW |
6 |
54,921,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3927:Nod1
|
UTSW |
6 |
54,921,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4499:Nod1
|
UTSW |
6 |
54,920,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Nod1
|
UTSW |
6 |
54,920,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Nod1
|
UTSW |
6 |
54,910,561 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5859:Nod1
|
UTSW |
6 |
54,907,162 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5868:Nod1
|
UTSW |
6 |
54,916,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Nod1
|
UTSW |
6 |
54,921,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6329:Nod1
|
UTSW |
6 |
54,921,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6331:Nod1
|
UTSW |
6 |
54,901,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Nod1
|
UTSW |
6 |
54,925,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Nod1
|
UTSW |
6 |
54,921,596 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6889:Nod1
|
UTSW |
6 |
54,921,094 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7582:Nod1
|
UTSW |
6 |
54,921,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Nod1
|
UTSW |
6 |
54,914,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Nod1
|
UTSW |
6 |
54,920,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Nod1
|
UTSW |
6 |
54,920,956 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8524:Nod1
|
UTSW |
6 |
54,925,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Nod1
|
UTSW |
6 |
54,921,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8961:Nod1
|
UTSW |
6 |
54,926,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTCGAAGTCTGAGTGCAG -3'
(R):5'- ACACTCATGGAGCTGGTAGG -3'
Sequencing Primer
(F):5'- AGTGCAGCTCATCCAGGC -3'
(R):5'- GCTGGTAGGCTTCAACAATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation