Incidental Mutation 'IGL01376:Nt5dc3'
| ID |
78717 |
| 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 # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
86614869-86674253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86670028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 541
(Q541L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099396]
|
| AlphaFold |
Q3UHB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099396
AA Change: Q541L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
AA Change: Q541L
| 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: ENSMUST00000159445
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
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 |
|
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation