Incidental Mutation 'IGL02035:Nt5c1a'
ID |
184492 |
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 # |
IGL02035
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
123095297-123110068 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 123107895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 193
(S193C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068262]
|
AlphaFold |
A3KFX0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068262
AA Change: S193C
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069422 Gene: ENSMUSG00000054958 AA Change: S193C
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
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 |
IGL02437:Nt5c1a
|
APN |
4 |
123,108,034 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02877:Nt5c1a
|
APN |
4 |
123,109,867 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |