Incidental Mutation 'R5922:Dus2'
| ID |
461632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dus2
|
| Ensembl Gene |
ENSMUSG00000031901 |
| Gene Name |
dihydrouridine synthase 2 |
| Synonyms |
Dus2l, 2310016K04Rik |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106738110-106780472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106780037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 453
(R453Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034375]
[ENSMUST00000119736]
|
| AlphaFold |
Q9D7B1 |
| PDB Structure |
Solution structure of the dsRBD from hypothetical protein BAB26260 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034375
AA Change: R453Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
AA Change: R453Q
| 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: ENSMUST00000144904
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
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 |
|
IGL03265:Dus2
|
APN |
8 |
106,760,423 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCATAGTCCTGCTGTTTG -3'
(R):5'- TTTGCATGTCAACGGCCAG -3'
Sequencing Primer
(F):5'- GCCATAGTCCTGCTGTTTGTTGAC -3'
(R):5'- GGTTTAGGTCCTGGCACCCATC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation