Incidental Mutation 'R5868:Nod1'
| ID |
454270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nod1
|
| Ensembl Gene |
ENSMUSG00000038058 |
| Gene Name |
nucleotide-binding oligomerization domain containing 1 |
| Synonyms |
Card4, F830007N14Rik, Nlrc1 |
| MMRRC Submission |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
54900934-54949597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54916312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 128
(K128N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060655]
[ENSMUST00000168172]
[ENSMUST00000203076]
|
| AlphaFold |
Q8BHB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060655
AA Change: K754N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: K754N
| 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: K754N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: K754N
| 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 damaging
Transcript: ENSMUST00000203076
AA Change: K128N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145123
Gene: ENSMUSG00000038058
AA Change: K128N
| 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 |
noncoding transcript
Transcript: ENSMUST00000205242
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,788,401 (GRCm39) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,504,380 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,609,439 (GRCm39) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,474,960 (GRCm39) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,985,796 (GRCm39) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,152,604 (GRCm39) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,473 (GRCm39) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,011 (GRCm39) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,791,932 (GRCm39) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,136,192 (GRCm39) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,585,225 (GRCm39) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,575,079 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,425 (GRCm39) |
F455V |
possibly damaging |
Het |
| H4c16 |
C |
T |
6: 136,781,292 (GRCm39) |
G29D |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,341,873 (GRCm39) |
A311S |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,684,547 (GRCm39) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,693,041 (GRCm39) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,226,911 (GRCm39) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,399 (GRCm39) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,078,518 (GRCm39) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 12,787,116 (GRCm39) |
F64I |
probably benign |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,663,742 (GRCm39) |
|
probably null |
Het |
| Noxred1 |
T |
A |
12: 87,270,976 (GRCm39) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,424 (GRCm39) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,366,800 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,452,133 (GRCm39) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,237,093 (GRCm39) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,299,704 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,549,174 (GRCm39) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,716,999 (GRCm39) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,433,450 (GRCm39) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 106,342,636 (GRCm39) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,410,360 (GRCm39) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,324,065 (GRCm39) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,326,119 (GRCm39) |
D129G |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,077,068 (GRCm39) |
P1189Q |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,118,320 (GRCm39) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm39) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,737,118 (GRCm39) |
L37P |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,718,580 (GRCm39) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,139,353 (GRCm39) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,586,128 (GRCm39) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,689,901 (GRCm39) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 115,406,586 (GRCm39) |
H192Q |
probably benign |
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 |
|
R5552:Nod1
|
UTSW |
6 |
54,921,616 (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 |
|
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'- GGTTGAGCCTAAAACAGAACCC -3'
(R):5'- CACCCAAAATGCAGGATGTTG -3'
Sequencing Primer
(F):5'- GGTGACGCATGCCTGTAAG -3'
(R):5'- GGCTGCACATGCCCTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation