Incidental Mutation 'R8042:Nt5dc1'
| ID |
618579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5dc1
|
| Ensembl Gene |
ENSMUSG00000039480 |
| Gene Name |
5'-nucleotidase domain containing 1 |
| Synonyms |
6030401B09Rik, Nt5c2l1 |
| MMRRC Submission |
067479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
34179605-34294585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34273210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 196
(D196G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[ENSMUST00000099973]
[ENSMUST00000105511]
[ENSMUST00000105512]
[ENSMUST00000213269]
|
| AlphaFold |
Q8C5P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047885
|
| SMART Domains |
Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
382 |
2.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099973
AA Change: D196G
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097553
Gene: ENSMUSG00000039480
AA Change: D196G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
189 |
8.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105511
|
| SMART Domains |
Protein: ENSMUSP00000101150
Gene: ENSMUSG00000039462
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
101 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
103 |
155 |
1.4e-9 |
PFAM |
|
Pfam:Collagen
|
153 |
218 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
193 |
250 |
2.6e-9 |
PFAM |
|
Pfam:Collagen
|
206 |
264 |
3.8e-8 |
PFAM |
|
low complexity region
|
282 |
323 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
329 |
361 |
2.25e-6 |
PROSPERO |
|
internal_repeat_1
|
331 |
365 |
5.9e-14 |
PROSPERO |
|
low complexity region
|
368 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
413 |
483 |
9.3e-10 |
PFAM |
|
low complexity region
|
487 |
517 |
N/A |
INTRINSIC |
|
C1Q
|
545 |
680 |
2.85e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105512
|
| SMART Domains |
Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
372 |
8.7e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213269
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
| Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
| Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,731,965 (GRCm39) |
V608L |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
| Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
| Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
| Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
| Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
| Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,596,409 (GRCm39) |
|
probably null |
Het |
| Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
| Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,188 (GRCm39) |
P564S |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,796,980 (GRCm39) |
V1A |
|
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCGGAGTATTTAATCTACTTGG -3'
(R):5'- CTCCTTTTCAGTAAATCAAGCCACC -3'
Sequencing Primer
(F):5'- TTTACAGCTTCGCACTGG -3'
(R):5'- ATTGCAGGATATTGGTTCCAATTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation