Incidental Mutation 'IGL01765:Nmrk1'
| ID |
153314 |
| 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 # |
IGL01765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
18609380-18629555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18616902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 17
(T17M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042392]
[ENSMUST00000159572]
[ENSMUST00000161080]
|
| AlphaFold |
Q91W63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042392
AA Change: T17M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037198
Gene: ENSMUSG00000037847
AA Change: T17M
| 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 damaging
Transcript: ENSMUST00000159572
AA Change: T17M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125384
Gene: ENSMUSG00000037847
AA Change: T17M
| 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 |
0.6329 |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,030,426 (GRCm39) |
M11K |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,919,104 (GRCm39) |
V442A |
unknown |
Het |
| Cdh20 |
C |
T |
1: 109,988,836 (GRCm39) |
T246I |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,854,446 (GRCm39) |
D2G |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,999 (GRCm39) |
R811C |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,766 (GRCm39) |
A1012E |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,082 (GRCm39) |
I896T |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,457,654 (GRCm39) |
Y312C |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,294,788 (GRCm39) |
F428L |
probably benign |
Het |
| Hrh4 |
G |
A |
18: 13,140,252 (GRCm39) |
R49Q |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,433,108 (GRCm39) |
T1408A |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,913 (GRCm39) |
E132G |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,851,085 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,366,522 (GRCm39) |
D452E |
probably benign |
Het |
| Ndufa7 |
G |
T |
17: 34,048,786 (GRCm39) |
E83* |
probably null |
Het |
| Ntsr1 |
A |
G |
2: 180,180,510 (GRCm39) |
E272G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,006,610 (GRCm39) |
K1184R |
possibly damaging |
Het |
| Or10z1 |
T |
G |
1: 174,077,703 (GRCm39) |
K263N |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,291 (GRCm39) |
Q26L |
probably benign |
Het |
| Or1e21 |
A |
C |
11: 73,344,303 (GRCm39) |
L245R |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or7e170 |
A |
T |
9: 19,795,247 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,072 (GRCm39) |
K716R |
probably benign |
Het |
| Phldb3 |
A |
G |
7: 24,316,800 (GRCm39) |
D267G |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,540,749 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,695,049 (GRCm39) |
I87M |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,974,170 (GRCm39) |
F219L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,599,177 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,704,261 (GRCm39) |
D228E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,327,178 (GRCm39) |
M1723L |
probably benign |
Het |
| Sc5d |
A |
G |
9: 42,167,464 (GRCm39) |
F128S |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,616 (GRCm39) |
S80P |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,417,680 (GRCm39) |
R278H |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,112,985 (GRCm39) |
I986T |
probably benign |
Het |
| Trio |
A |
G |
15: 27,764,112 (GRCm39) |
V860A |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,788 (GRCm39) |
T823A |
probably benign |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation