Incidental Mutation 'IGL00811:Nmrk1'
| ID |
12398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmrk1
|
| Ensembl Gene |
ENSMUSG00000037847 |
| Gene Name |
nicotinamide riboside kinase 1 |
| Synonyms |
BC016495, D630020N23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
18609380-18629555 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 18622511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042392]
[ENSMUST00000159572]
[ENSMUST00000161080]
|
| AlphaFold |
Q91W63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042392
|
| SMART Domains |
Protein: ENSMUSP00000037198
Gene: ENSMUSG00000037847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
5 |
191 |
1.4e-7 |
PFAM |
|
Pfam:AAA_18
|
6 |
149 |
7.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159572
|
| SMART Domains |
Protein: ENSMUSP00000125384
Gene: ENSMUSG00000037847
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
5 |
192 |
1.6e-7 |
PFAM |
|
Pfam:AAA_18
|
6 |
162 |
6.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161080
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agps |
T |
C |
2: 75,756,316 (GRCm39) |
F649L |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,231 (GRCm39) |
D1752E |
possibly damaging |
Het |
| Det1 |
A |
G |
7: 78,489,807 (GRCm39) |
V406A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,672 (GRCm39) |
V955A |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,354 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,961,285 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,567 (GRCm39) |
L614P |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,201 (GRCm39) |
V353D |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,724 (GRCm39) |
P140S |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,244 (GRCm39) |
F4L |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,579,531 (GRCm39) |
S588R |
possibly damaging |
Het |
| Nomo1 |
C |
T |
7: 45,732,732 (GRCm39) |
A1165V |
possibly damaging |
Het |
| Osmr |
G |
A |
15: 6,845,147 (GRCm39) |
T873I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,024 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,544 (GRCm39) |
M115K |
probably damaging |
Het |
| Rora |
C |
A |
9: 69,278,572 (GRCm39) |
T299K |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,500,389 (GRCm39) |
P386Q |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,213 (GRCm39) |
E306G |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,521,414 (GRCm39) |
A121S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,332,752 (GRCm39) |
A411V |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,306 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,855,463 (GRCm39) |
N2509K |
probably damaging |
Het |
|
| Other mutations in Nmrk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01765:Nmrk1
|
APN |
19 |
18,616,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Nmrk1
|
APN |
19 |
18,618,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Nmrk1
|
UTSW |
19 |
18,618,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0726:Nmrk1
|
UTSW |
19 |
18,618,844 (GRCm39) |
unclassified |
probably benign |
|
|
R2109:Nmrk1
|
UTSW |
19 |
18,618,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Nmrk1
|
UTSW |
19 |
18,622,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4810:Nmrk1
|
UTSW |
19 |
18,617,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5470:Nmrk1
|
UTSW |
19 |
18,617,248 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5619:Nmrk1
|
UTSW |
19 |
18,622,452 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5770:Nmrk1
|
UTSW |
19 |
18,622,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Nmrk1
|
UTSW |
19 |
18,619,607 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7489:Nmrk1
|
UTSW |
19 |
18,619,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Nmrk1
|
UTSW |
19 |
18,613,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7662:Nmrk1
|
UTSW |
19 |
18,619,542 (GRCm39) |
nonsense |
probably null |
|
|
R8726:Nmrk1
|
UTSW |
19 |
18,616,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Nmrk1
|
UTSW |
19 |
18,617,156 (GRCm39) |
intron |
probably benign |
|
|
R9050:Nmrk1
|
UTSW |
19 |
18,618,539 (GRCm39) |
missense |
probably benign |
|
|
R9651:Nmrk1
|
UTSW |
19 |
18,616,929 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation