Incidental Mutation 'R8268:Nt5dc1'
| ID |
639547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5dc1
|
| Ensembl Gene |
ENSMUSG00000039480 |
| Gene Name |
5'-nucleotidase domain containing 1 |
| Synonyms |
6030401B09Rik, Nt5c2l1 |
| MMRRC Submission |
067692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8268 (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 34186407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 388
(D388G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047885]
[ENSMUST00000105512]
|
| AlphaFold |
Q8C5P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047885
AA Change: D388G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480
AA Change: D388G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
382 |
2.6e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105512
AA Change: D387G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480
AA Change: D387G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
372 |
8.7e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,909,961 (GRCm39) |
C396S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
| Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
| Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
| Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
| Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
| Mkrn3 |
A |
G |
7: 62,068,270 (GRCm39) |
L507P |
probably damaging |
Het |
| Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,216,659 (GRCm38) |
S170P |
probably damaging |
Het |
| Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,587,192 (GRCm39) |
L323P |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,025,674 (GRCm39) |
T187A |
unknown |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
| Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
| Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
| Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
| Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
| Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
| Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTTGAAGACAACAGCTCTCTC -3'
(R):5'- TGGGTCATGTTAAAGTGCACTC -3'
Sequencing Primer
(F):5'- TGAAGACAACAGCTCTCTCTAATGG -3'
(R):5'- TGTTAAAGTGCACTCATAGTAAGGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation