Incidental Mutation 'IGL02471:Nt5dc1'
| ID |
294744 |
| 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 # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34179605-34294585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34279721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 107
(E107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[ENSMUST00000099973]
[ENSMUST00000105512]
[ENSMUST00000213269]
|
| AlphaFold |
Q8C5P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047885
AA Change: E107G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: E107G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
382 |
2.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099973
AA Change: E107G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097553
Gene: ENSMUSG00000039480
AA Change: E107G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
189 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105512
AA Change: E107G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: E107G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
372 |
8.7e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213269
AA Change: E107G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
| Ermap |
G |
A |
4: 119,037,160 (GRCm39) |
H353Y |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
| Manba |
G |
A |
3: 135,212,769 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,503,955 (GRCm39) |
F319I |
probably damaging |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,207 (GRCm39) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,230,551 (GRCm39) |
G293R |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
IGL03345:Nt5dc1
|
APN |
10 |
34,200,458 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2015-04-16 |
Incidental Mutation