Incidental Mutation 'R0018:Pus3'
ID |
19065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus3
|
Ensembl Gene |
ENSMUSG00000032103 |
Gene Name |
pseudouridine synthase 3 |
Synonyms |
2610020J05Rik, 5730412F04Rik |
MMRRC Submission |
038313-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R0018 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
35469891-35478697 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35477920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034615]
[ENSMUST00000098906]
[ENSMUST00000115110]
[ENSMUST00000121246]
|
AlphaFold |
Q9JI38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034615
AA Change: D384G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034615 Gene: ENSMUSG00000032103 AA Change: D384G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
Pfam:PseudoU_synth_1
|
68 |
190 |
6.8e-12 |
PFAM |
Pfam:PseudoU_synth_1
|
213 |
331 |
4.8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098906
|
SMART Domains |
Protein: ENSMUSP00000096505 Gene: ENSMUSG00000074452
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115110
|
SMART Domains |
Protein: ENSMUSP00000110762 Gene: ENSMUSG00000050555
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
Pfam:HYLS1_C
|
211 |
299 |
6.4e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121246
|
SMART Domains |
Protein: ENSMUSP00000113382 Gene: ENSMUSG00000032103
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
46 |
N/A |
INTRINSIC |
Pfam:PseudoU_synth_1
|
68 |
190 |
3e-12 |
PFAM |
Pfam:PseudoU_synth_1
|
213 |
316 |
1.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135768
|
Meta Mutation Damage Score |
0.0803 |
Coding Region Coverage |
- 1x: 82.8%
- 3x: 76.3%
- 10x: 59.3%
- 20x: 41.5%
|
Validation Efficiency |
90% (80/89) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,432,843 (GRCm39) |
L780P |
possibly damaging |
Het |
Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
Nudt8 |
C |
T |
19: 4,051,152 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
Slc26a6 |
G |
T |
9: 108,736,121 (GRCm39) |
|
probably null |
Het |
Ufm1 |
A |
T |
3: 53,766,617 (GRCm39) |
I79N |
probably benign |
Het |
Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
probably benign |
Het |
|
Other mutations in Pus3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0018:Pus3
|
UTSW |
9 |
35,477,920 (GRCm39) |
missense |
probably benign |
|
R0376:Pus3
|
UTSW |
9 |
35,477,718 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0927:Pus3
|
UTSW |
9 |
35,476,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R3407:Pus3
|
UTSW |
9 |
35,478,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R3766:Pus3
|
UTSW |
9 |
35,477,968 (GRCm39) |
missense |
probably benign |
0.01 |
R3832:Pus3
|
UTSW |
9 |
35,477,874 (GRCm39) |
missense |
probably benign |
0.37 |
R3833:Pus3
|
UTSW |
9 |
35,477,874 (GRCm39) |
missense |
probably benign |
0.37 |
R4655:Pus3
|
UTSW |
9 |
35,476,228 (GRCm39) |
missense |
probably benign |
0.00 |
R5085:Pus3
|
UTSW |
9 |
35,476,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7238:Pus3
|
UTSW |
9 |
35,477,965 (GRCm39) |
missense |
probably benign |
|
R7807:Pus3
|
UTSW |
9 |
35,478,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R9100:Pus3
|
UTSW |
9 |
35,476,946 (GRCm39) |
missense |
probably benign |
|
X0027:Pus3
|
UTSW |
9 |
35,477,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-03-25 |