Incidental Mutation 'IGL00767:Nt5dc3'
ID |
12793 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5dc3
|
Ensembl Gene |
ENSMUSG00000054027 |
Gene Name |
5'-nucleotidase domain containing 3 |
Synonyms |
Gnn, C630002B14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00767
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86614869-86674253 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 86656137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099396]
|
AlphaFold |
Q3UHB1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099396
|
SMART Domains |
Protein: ENSMUSP00000096994 Gene: ENSMUSG00000054027
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
Pfam:5_nucleotid
|
83 |
526 |
1.8e-159 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218792
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218802
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
Mindy2 |
A |
G |
9: 70,541,285 (GRCm39) |
|
probably null |
Het |
Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
Osgin2 |
G |
A |
4: 16,006,377 (GRCm39) |
H106Y |
probably damaging |
Het |
Pdlim3 |
G |
A |
8: 46,349,827 (GRCm39) |
G46R |
probably damaging |
Het |
Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
Serpinb10 |
G |
T |
1: 107,463,807 (GRCm39) |
V30F |
possibly damaging |
Het |
Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nt5dc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Nt5dc3
|
APN |
10 |
86,669,838 (GRCm39) |
splice site |
probably null |
|
IGL01318:Nt5dc3
|
APN |
10 |
86,661,089 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01369:Nt5dc3
|
APN |
10 |
86,656,139 (GRCm39) |
splice site |
probably benign |
|
IGL01376:Nt5dc3
|
APN |
10 |
86,670,028 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01568:Nt5dc3
|
APN |
10 |
86,669,802 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02286:Nt5dc3
|
APN |
10 |
86,656,644 (GRCm39) |
splice site |
probably benign |
|
IGL02692:Nt5dc3
|
APN |
10 |
86,640,642 (GRCm39) |
splice site |
probably null |
|
R0372:Nt5dc3
|
UTSW |
10 |
86,661,155 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0714:Nt5dc3
|
UTSW |
10 |
86,648,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R1755:Nt5dc3
|
UTSW |
10 |
86,660,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Nt5dc3
|
UTSW |
10 |
86,669,926 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1888:Nt5dc3
|
UTSW |
10 |
86,669,926 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3973:Nt5dc3
|
UTSW |
10 |
86,660,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4097:Nt5dc3
|
UTSW |
10 |
86,669,820 (GRCm39) |
missense |
probably benign |
0.01 |
R4871:Nt5dc3
|
UTSW |
10 |
86,652,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Nt5dc3
|
UTSW |
10 |
86,640,656 (GRCm39) |
missense |
probably benign |
0.08 |
R5482:Nt5dc3
|
UTSW |
10 |
86,647,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R5530:Nt5dc3
|
UTSW |
10 |
86,656,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R5861:Nt5dc3
|
UTSW |
10 |
86,651,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Nt5dc3
|
UTSW |
10 |
86,647,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R8251:Nt5dc3
|
UTSW |
10 |
86,656,091 (GRCm39) |
missense |
probably damaging |
0.98 |
R8734:Nt5dc3
|
UTSW |
10 |
86,669,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2012-12-06 |