Incidental Mutation 'IGL02877:Nt5c1a'
| ID |
362665 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nt5c1a
|
| Ensembl Gene |
ENSMUSG00000054958 |
| Gene Name |
5'-nucleotidase, cytosolic IA |
| Synonyms |
Cn1a, LOC230718 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123095297-123110068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123109867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 322
(I322N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068262]
|
| AlphaFold |
A3KFX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068262
AA Change: I322N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069422
Gene: ENSMUSG00000054958
AA Change: I322N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
|
Pfam:5-nucleotidase
|
78 |
350 |
3.5e-109 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cnot8 |
A |
G |
11: 58,002,228 (GRCm39) |
E87G |
probably benign |
Het |
| Crnkl1 |
C |
A |
2: 145,762,591 (GRCm39) |
E525* |
probably null |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Glcci1 |
T |
C |
6: 8,582,757 (GRCm39) |
S373P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Ptx3 |
A |
G |
3: 66,132,196 (GRCm39) |
Y239C |
probably damaging |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Spem2 |
T |
G |
11: 69,708,521 (GRCm39) |
H148P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
|
| Other mutations in Nt5c1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Nt5c1a
|
APN |
4 |
123,109,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02035:Nt5c1a
|
APN |
4 |
123,107,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02437:Nt5c1a
|
APN |
4 |
123,108,034 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1628:Nt5c1a
|
UTSW |
4 |
123,102,284 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2273:Nt5c1a
|
UTSW |
4 |
123,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Nt5c1a
|
UTSW |
4 |
123,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Nt5c1a
|
UTSW |
4 |
123,109,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4826:Nt5c1a
|
UTSW |
4 |
123,102,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Nt5c1a
|
UTSW |
4 |
123,102,786 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5690:Nt5c1a
|
UTSW |
4 |
123,109,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Nt5c1a
|
UTSW |
4 |
123,110,049 (GRCm39) |
splice site |
probably null |
|
|
R7162:Nt5c1a
|
UTSW |
4 |
123,107,898 (GRCm39) |
missense |
probably benign |
|
|
R7390:Nt5c1a
|
UTSW |
4 |
123,102,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7823:Nt5c1a
|
UTSW |
4 |
123,102,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Nt5c1a
|
UTSW |
4 |
123,105,978 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8121:Nt5c1a
|
UTSW |
4 |
123,102,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Nt5c1a
|
UTSW |
4 |
123,107,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8927:Nt5c1a
|
UTSW |
4 |
123,102,281 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8928:Nt5c1a
|
UTSW |
4 |
123,102,281 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2015-12-18 |
Incidental Mutation