Incidental Mutation 'IGL00476:Nt5dc3'
ID |
4682 |
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 # |
IGL00476
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86614869-86674253 bp(+) (GRCm39) |
Type of Mutation |
splice site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 86669838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099396]
|
AlphaFold |
Q3UHB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099396
AA Change: F478L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096994 Gene: ENSMUSG00000054027 AA Change: F478L
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 null
Transcript: ENSMUST00000218802
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
Other mutations in Nt5dc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Nt5dc3
|
APN |
10 |
86,656,137 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-04-20 |