Incidental Mutation 'R0104:Nmrk1'
| ID |
16240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmrk1
|
| Ensembl Gene |
ENSMUSG00000037847 |
| Gene Name |
nicotinamide riboside kinase 1 |
| Synonyms |
BC016495, D630020N23Rik |
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
18609380-18629555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18618582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 88
(S88R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042392]
[ENSMUST00000159572]
[ENSMUST00000161080]
|
| AlphaFold |
Q91W63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042392
AA Change: S88R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037198
Gene: ENSMUSG00000037847
AA Change: S88R
| 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 |
noncoding transcript
Transcript: ENSMUST00000159061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159572
AA Change: S88R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125384
Gene: ENSMUSG00000037847
AA Change: S88R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162446
|
| Meta Mutation Damage Score |
0.1049 |
| Coding Region Coverage |
- 1x: 75.5%
- 3x: 52.6%
- 10x: 7.5%
- 20x: 3.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,469 (GRCm39) |
A28S |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,563,500 (GRCm39) |
D157V |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,864,514 (GRCm39) |
H142N |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,572 (GRCm39) |
M525K |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm14129 |
T |
C |
2: 148,773,493 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,088 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,401,663 (GRCm39) |
V880D |
probably benign |
Het |
| Mcpt1 |
T |
A |
14: 56,256,888 (GRCm39) |
M142K |
possibly damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,261 (GRCm39) |
S265G |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,619 (GRCm39) |
I109N |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,594,997 (GRCm39) |
L156F |
possibly damaging |
Het |
| Slc22a21 |
A |
C |
11: 53,842,635 (GRCm39) |
M498R |
probably null |
Het |
| Ssc5d |
T |
C |
7: 4,939,285 (GRCm39) |
S574P |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,258 (GRCm39) |
I266F |
possibly damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,480 (GRCm39) |
H75Y |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,457,525 (GRCm39) |
K53E |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,251,192 (GRCm39) |
M1261K |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Nmrk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Nmrk1
|
APN |
19 |
18,622,511 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation