Incidental Mutation 'IGL01577:Nmnat1'
| ID |
91305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmnat1
|
| Ensembl Gene |
ENSMUSG00000028992 |
| Gene Name |
nicotinamide nucleotide adenylyltransferase 1 |
| Synonyms |
D4Cole1e, 2610529L11Rik, nicotinamide mononucleotide adenylyl transferase, nmnat, 5730441G13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
149552029-149569659 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 149554135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 135
(D135V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030845]
[ENSMUST00000105693]
[ENSMUST00000119921]
[ENSMUST00000126896]
|
| AlphaFold |
Q9EPA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030845
AA Change: D135V
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
12 |
230 |
2.5e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105693
AA Change: D135V
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
12 |
230 |
9.5e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119921
AA Change: D135V
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
12 |
140 |
9.8e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126896
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
| Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
| Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
| Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
| Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
| Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
| Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
| Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
| Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
| Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
| Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
| Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
| Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
| Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
| Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
| Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
| Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably damaging |
Het |
|
| Other mutations in Nmnat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02943:Nmnat1
|
APN |
4 |
149,557,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Nmnat1
|
UTSW |
4 |
149,553,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0164:Nmnat1
|
UTSW |
4 |
149,553,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4363:Nmnat1
|
UTSW |
4 |
149,557,902 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4583:Nmnat1
|
UTSW |
4 |
149,553,608 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4835:Nmnat1
|
UTSW |
4 |
149,557,802 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4991:Nmnat1
|
UTSW |
4 |
149,553,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5073:Nmnat1
|
UTSW |
4 |
149,553,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5850:Nmnat1
|
UTSW |
4 |
149,554,124 (GRCm39) |
nonsense |
probably null |
|
|
R7249:Nmnat1
|
UTSW |
4 |
149,554,099 (GRCm39) |
missense |
probably null |
0.06 |
|
R7471:Nmnat1
|
UTSW |
4 |
149,557,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Nmnat1
|
UTSW |
4 |
149,557,808 (GRCm39) |
missense |
probably benign |
|
|
R8478:Nmnat1
|
UTSW |
4 |
149,557,841 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8480:Nmnat1
|
UTSW |
4 |
149,557,827 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9036:Nmnat1
|
UTSW |
4 |
149,553,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9742:Nmnat1
|
UTSW |
4 |
149,553,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation