Incidental Mutation 'IGL03265:Dus2'
| ID |
415066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dus2
|
| Ensembl Gene |
ENSMUSG00000031901 |
| Gene Name |
dihydrouridine synthase 2 |
| Synonyms |
Dus2l, 2310016K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL03265
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106738110-106780472 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 106760423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034375]
[ENSMUST00000119736]
|
| AlphaFold |
Q9D7B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034375
|
| SMART Domains |
Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
15 |
344 |
1.8e-54 |
PFAM |
|
DSRM
|
370 |
435 |
1.03e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119736
|
| SMART Domains |
Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
1 |
233 |
8.1e-38 |
PFAM |
|
DSRM
|
257 |
322 |
1.03e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141374
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
A |
11: 109,943,929 (GRCm39) |
M1113I |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,495,014 (GRCm39) |
M286T |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,469,117 (GRCm39) |
S1575G |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,071 (GRCm39) |
D87G |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,439 (GRCm39) |
F1641S |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,074,628 (GRCm39) |
H1062Q |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,181,005 (GRCm39) |
R396G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,140 (GRCm39) |
D4777E |
probably benign |
Het |
| Bmi1 |
T |
A |
2: 18,686,672 (GRCm39) |
M17K |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,945,454 (GRCm39) |
N2480S |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,674,243 (GRCm39) |
E944G |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,075 (GRCm39) |
H236Y |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,568,007 (GRCm39) |
D1863G |
probably benign |
Het |
| Dnajc17 |
C |
A |
2: 119,016,199 (GRCm39) |
E91D |
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,880,594 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
A |
T |
13: 74,812,246 (GRCm39) |
T354S |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,300,259 (GRCm39) |
H851R |
probably damaging |
Het |
| Gm20532 |
G |
A |
2: 26,522,696 (GRCm39) |
C90Y |
unknown |
Het |
| Gpr21 |
T |
C |
2: 37,408,086 (GRCm39) |
Y211H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,398,002 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
G |
A |
9: 14,972,255 (GRCm39) |
T895I |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,974 (GRCm39) |
Y161C |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,121,433 (GRCm39) |
Y526H |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,580,737 (GRCm39) |
Y151C |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,711 (GRCm39) |
N493S |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,697 (GRCm39) |
V248A |
probably damaging |
Het |
| Or52s6 |
C |
A |
7: 103,091,655 (GRCm39) |
R225L |
probably benign |
Het |
| Or5m10b |
T |
A |
2: 85,699,494 (GRCm39) |
M186K |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,819,424 (GRCm39) |
Y32F |
probably damaging |
Het |
| Or6c1b |
A |
T |
10: 129,272,794 (GRCm39) |
T38S |
possibly damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,206 (GRCm39) |
D445G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,470,614 (GRCm39) |
N123D |
probably benign |
Het |
| Slc25a33 |
A |
C |
4: 149,846,893 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,155,635 (GRCm39) |
V714A |
possibly damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,898 (GRCm39) |
L188* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,936 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,154,339 (GRCm39) |
Y352C |
probably benign |
Het |
|
| Other mutations in Dus2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Dus2
|
APN |
8 |
106,752,533 (GRCm39) |
splice site |
probably null |
|
|
IGL03000:Dus2
|
APN |
8 |
106,775,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Dus2
|
UTSW |
8 |
106,775,309 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0733:Dus2
|
UTSW |
8 |
106,772,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1109:Dus2
|
UTSW |
8 |
106,780,114 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1190:Dus2
|
UTSW |
8 |
106,771,497 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1296:Dus2
|
UTSW |
8 |
106,779,675 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1819:Dus2
|
UTSW |
8 |
106,778,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Dus2
|
UTSW |
8 |
106,775,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4282:Dus2
|
UTSW |
8 |
106,775,286 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4621:Dus2
|
UTSW |
8 |
106,757,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4903:Dus2
|
UTSW |
8 |
106,771,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5922:Dus2
|
UTSW |
8 |
106,780,037 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5997:Dus2
|
UTSW |
8 |
106,772,698 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7235:Dus2
|
UTSW |
8 |
106,742,587 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7387:Dus2
|
UTSW |
8 |
106,772,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Dus2
|
UTSW |
8 |
106,762,652 (GRCm39) |
missense |
probably benign |
|
|
R8088:Dus2
|
UTSW |
8 |
106,757,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8343:Dus2
|
UTSW |
8 |
106,722,645 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9086:Dus2
|
UTSW |
8 |
106,742,573 (GRCm39) |
nonsense |
probably null |
|
|
R9113:Dus2
|
UTSW |
8 |
106,775,333 (GRCm39) |
nonsense |
probably null |
|
|
R9383:Dus2
|
UTSW |
8 |
106,776,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9480:Dus2
|
UTSW |
8 |
106,757,052 (GRCm39) |
nonsense |
probably null |
|
|
R9569:Dus2
|
UTSW |
8 |
106,771,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9766:Dus2
|
UTSW |
8 |
106,772,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation