Incidental Mutation 'R3410:Nod1'
ID |
258455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nod1
|
Ensembl Gene |
ENSMUSG00000038058 |
Gene Name |
nucleotide-binding oligomerization domain containing 1 |
Synonyms |
Card4, F830007N14Rik, Nlrc1 |
MMRRC Submission |
040628-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3410 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
54900934-54949597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 54921902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 139
(R139S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060655]
[ENSMUST00000168172]
[ENSMUST00000203076]
[ENSMUST00000203837]
|
AlphaFold |
Q8BHB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060655
AA Change: R139S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000055747 Gene: ENSMUSG00000038058 AA Change: R139S
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 benign
Transcript: ENSMUST00000168172
AA Change: R139S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000130487 Gene: ENSMUSG00000038058 AA Change: R139S
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 |
|
Meta Mutation Damage Score |
0.1000 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (59/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
C |
8: 120,342,708 (GRCm39) |
V418A |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,316,114 (GRCm39) |
F569S |
probably benign |
Het |
Alcam |
T |
C |
16: 52,130,261 (GRCm39) |
T30A |
probably null |
Het |
Arnt2 |
G |
A |
7: 83,924,655 (GRCm39) |
R391W |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,576,196 (GRCm39) |
V817A |
probably damaging |
Het |
Atp13a4 |
G |
T |
16: 29,232,567 (GRCm39) |
T923K |
probably damaging |
Het |
Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
Ccdc185 |
T |
G |
1: 182,576,313 (GRCm39) |
Q125H |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
Cct2 |
T |
C |
10: 116,897,968 (GRCm39) |
N73S |
probably benign |
Het |
Clock |
G |
A |
5: 76,377,401 (GRCm39) |
Q633* |
probably null |
Het |
Col6a2 |
T |
C |
10: 76,439,193 (GRCm39) |
I826V |
probably benign |
Het |
Cpsf1 |
G |
T |
15: 76,485,981 (GRCm39) |
Y396* |
probably null |
Het |
Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
Dxo |
A |
G |
17: 35,057,825 (GRCm39) |
N177D |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,472 (GRCm39) |
V95E |
possibly damaging |
Het |
Galnt6 |
T |
C |
15: 100,597,018 (GRCm39) |
N383D |
probably damaging |
Het |
Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
Gsdmc4 |
A |
G |
15: 63,763,895 (GRCm39) |
S401P |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,047,109 (GRCm39) |
D435E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,381,378 (GRCm39) |
S266P |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,708,050 (GRCm39) |
D721G |
probably benign |
Het |
Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,215,197 (GRCm39) |
N196S |
unknown |
Het |
Lama3 |
G |
C |
18: 12,546,915 (GRCm39) |
|
probably null |
Het |
Mcm5 |
T |
C |
8: 75,848,272 (GRCm39) |
M507T |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,372,553 (GRCm39) |
R814G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,456 (GRCm39) |
E186G |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
Nudcd1 |
T |
C |
15: 44,284,207 (GRCm39) |
M60V |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or5p63 |
G |
A |
7: 107,811,490 (GRCm39) |
P82L |
possibly damaging |
Het |
Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Ovol2 |
A |
G |
2: 144,159,796 (GRCm39) |
S82P |
probably benign |
Het |
Ppl |
T |
C |
16: 4,925,381 (GRCm39) |
E86G |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,833,667 (GRCm39) |
Y327C |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
Sltm |
T |
G |
9: 70,493,240 (GRCm39) |
L728V |
probably damaging |
Het |
Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,748,357 (GRCm39) |
K812E |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
Tmem67 |
A |
T |
4: 12,073,952 (GRCm39) |
M288K |
probably benign |
Het |
Toporsl |
T |
C |
4: 52,610,970 (GRCm39) |
S288P |
probably benign |
Het |
Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
probably benign |
Het |
Vmn2r89 |
A |
T |
14: 51,693,628 (GRCm39) |
E326V |
probably damaging |
Het |
Wdr81 |
A |
G |
11: 75,343,758 (GRCm39) |
I503T |
probably damaging |
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 |
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 |
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'- ACGAAGACAGTCTCGCCATG -3'
(R):5'- TCAAGTTCTGGGACACTGGC -3'
Sequencing Primer
(F):5'- AGTCTCGCCATGCTCGTTGAG -3'
(R):5'- CTCCTGTTAGAGTAATTGATCTGGC -3'
|
Posted On |
2015-01-23 |