Incidental Mutation 'IGL03345:Nt5dc1'
ID |
417413 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5dc1
|
Ensembl Gene |
ENSMUSG00000039480 |
Gene Name |
5'-nucleotidase domain containing 1 |
Synonyms |
6030401B09Rik, Nt5c2l1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03345
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
34179605-34294585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34200458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 187
(E187G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[ENSMUST00000105512]
|
AlphaFold |
Q8C5P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047885
AA Change: E187G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000047126 Gene: ENSMUSG00000039480 AA Change: E187G
Domain | Start | End | E-Value | Type |
Pfam:5_nucleotid
|
1 |
382 |
2.6e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105512
AA Change: E186G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000101151 Gene: ENSMUSG00000039480 AA Change: E186G
Domain | Start | End | E-Value | Type |
Pfam:5_nucleotid
|
1 |
372 |
8.7e-54 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130290
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,250,163 (GRCm39) |
W987R |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,069,184 (GRCm39) |
V384A |
probably benign |
Het |
Akap12 |
T |
C |
10: 4,306,697 (GRCm39) |
V1169A |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,011,460 (GRCm39) |
T950A |
probably benign |
Het |
Avil |
T |
C |
10: 126,844,826 (GRCm39) |
|
probably benign |
Het |
Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,116,508 (GRCm39) |
S729P |
probably benign |
Het |
C3 |
T |
A |
17: 57,526,585 (GRCm39) |
I799F |
probably damaging |
Het |
Cstf2 |
C |
T |
X: 132,961,794 (GRCm39) |
R80C |
probably damaging |
Het |
Degs1l |
A |
T |
1: 180,882,937 (GRCm39) |
H233L |
probably benign |
Het |
Dock7 |
A |
G |
4: 98,873,056 (GRCm39) |
F1130S |
possibly damaging |
Het |
Elapor1 |
A |
G |
3: 108,399,332 (GRCm39) |
V86A |
possibly damaging |
Het |
Fat2 |
C |
T |
11: 55,173,187 (GRCm39) |
D2509N |
probably damaging |
Het |
Fut10 |
T |
C |
8: 31,750,069 (GRCm39) |
S452P |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,293,908 (GRCm39) |
M394K |
possibly damaging |
Het |
Gkn3 |
T |
A |
6: 87,365,798 (GRCm39) |
E7V |
probably null |
Het |
Gpld1 |
G |
A |
13: 25,171,007 (GRCm39) |
G803R |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,724,937 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
A |
T |
8: 26,371,321 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,053,044 (GRCm39) |
S445C |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,373,154 (GRCm39) |
K266E |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,146,304 (GRCm39) |
D1454V |
probably damaging |
Het |
Nrf1 |
A |
C |
6: 30,089,947 (GRCm39) |
T9P |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,886,308 (GRCm39) |
|
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,558,142 (GRCm39) |
Y274H |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,568,556 (GRCm39) |
K149R |
probably benign |
Het |
Rinl |
A |
G |
7: 28,496,222 (GRCm39) |
E401G |
possibly damaging |
Het |
Rsbn1 |
A |
G |
3: 103,822,466 (GRCm39) |
R234G |
possibly damaging |
Het |
Slc6a3 |
A |
G |
13: 73,719,633 (GRCm39) |
D554G |
probably benign |
Het |
Slc7a2 |
A |
G |
8: 41,369,530 (GRCm39) |
S646G |
probably benign |
Het |
Syt5 |
A |
G |
7: 4,545,206 (GRCm39) |
V231A |
probably benign |
Het |
Timeless |
T |
G |
10: 128,083,455 (GRCm39) |
S695A |
probably benign |
Het |
Tmem131l |
G |
A |
3: 83,868,896 (GRCm39) |
P160S |
probably damaging |
Het |
Tspear |
C |
A |
10: 77,710,716 (GRCm39) |
|
probably null |
Het |
Ubn1 |
T |
A |
16: 4,899,828 (GRCm39) |
H1113Q |
probably damaging |
Het |
Vmn2r49 |
T |
G |
7: 9,718,621 (GRCm39) |
K481T |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,213,027 (GRCm39) |
N872S |
probably damaging |
Het |
|
Other mutations in Nt5dc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01025:Nt5dc1
|
APN |
10 |
34,283,553 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02096:Nt5dc1
|
APN |
10 |
34,275,806 (GRCm39) |
nonsense |
probably null |
|
IGL02471:Nt5dc1
|
APN |
10 |
34,279,721 (GRCm39) |
missense |
probably benign |
0.03 |
R0083:Nt5dc1
|
UTSW |
10 |
34,279,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R1159:Nt5dc1
|
UTSW |
10 |
34,274,169 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1898:Nt5dc1
|
UTSW |
10 |
34,189,631 (GRCm39) |
missense |
probably benign |
0.00 |
R1901:Nt5dc1
|
UTSW |
10 |
34,189,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Nt5dc1
|
UTSW |
10 |
34,189,673 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4365:Nt5dc1
|
UTSW |
10 |
34,186,377 (GRCm39) |
missense |
probably benign |
0.20 |
R4942:Nt5dc1
|
UTSW |
10 |
34,198,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Nt5dc1
|
UTSW |
10 |
34,186,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R5168:Nt5dc1
|
UTSW |
10 |
34,273,236 (GRCm39) |
missense |
probably benign |
0.05 |
R5507:Nt5dc1
|
UTSW |
10 |
34,273,226 (GRCm39) |
missense |
probably benign |
|
R5605:Nt5dc1
|
UTSW |
10 |
34,279,691 (GRCm39) |
missense |
probably benign |
0.12 |
R6406:Nt5dc1
|
UTSW |
10 |
34,200,404 (GRCm39) |
missense |
probably benign |
0.04 |
R6495:Nt5dc1
|
UTSW |
10 |
34,200,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6799:Nt5dc1
|
UTSW |
10 |
34,189,703 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6835:Nt5dc1
|
UTSW |
10 |
34,186,375 (GRCm39) |
missense |
probably benign |
0.04 |
R7480:Nt5dc1
|
UTSW |
10 |
34,200,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7480:Nt5dc1
|
UTSW |
10 |
34,200,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R7486:Nt5dc1
|
UTSW |
10 |
34,275,805 (GRCm39) |
missense |
probably benign |
0.26 |
R7493:Nt5dc1
|
UTSW |
10 |
34,180,932 (GRCm39) |
missense |
probably benign |
0.00 |
R7638:Nt5dc1
|
UTSW |
10 |
34,190,792 (GRCm39) |
missense |
probably benign |
0.04 |
R8042:Nt5dc1
|
UTSW |
10 |
34,273,210 (GRCm39) |
missense |
probably benign |
0.19 |
R8160:Nt5dc1
|
UTSW |
10 |
34,200,392 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8268:Nt5dc1
|
UTSW |
10 |
34,186,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |