Incidental Mutation 'R6889:Nod1'
ID |
537098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nod1
|
Ensembl Gene |
ENSMUSG00000038058 |
Gene Name |
nucleotide-binding oligomerization domain containing 1 |
Synonyms |
Card4, F830007N14Rik, Nlrc1 |
MMRRC Submission |
044983-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6889 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
54900934-54949597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54921094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 408
(F408S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060655]
[ENSMUST00000168172]
[ENSMUST00000203076]
|
AlphaFold |
Q8BHB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060655
AA Change: F408S
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000055747 Gene: ENSMUSG00000038058 AA Change: F408S
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: F408S
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130487 Gene: ENSMUSG00000038058 AA Change: F408S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
Cacnb2 |
T |
A |
2: 14,990,826 (GRCm39) |
V636E |
possibly damaging |
Het |
Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,602,044 (GRCm39) |
Y270H |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
Qars1 |
A |
G |
9: 108,390,382 (GRCm39) |
T428A |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,951,960 (GRCm39) |
L1157Q |
probably damaging |
Het |
Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,603,834 (GRCm39) |
E198G |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
possibly 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 |
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 |
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 |
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'- CAAAGAGGCTCTTGTCGGTG -3'
(R):5'- AATTGCTCACTGCTCGCAC -3'
Sequencing Primer
(F):5'- TGAGCCACCTCTCCCAG -3'
(R):5'- TCCTGCGCAAAAAGGTGCTG -3'
|
Posted On |
2018-10-18 |