Incidental Mutation 'R4127:Pus10'
ID |
315448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus10
|
Ensembl Gene |
ENSMUSG00000020280 |
Gene Name |
pseudouridylate synthase 10 |
Synonyms |
Ccdc139, 4933435A13Rik, 2810013G11Rik |
MMRRC Submission |
040860-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4127 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
23615674-23682876 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 23668654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020520]
[ENSMUST00000058163]
[ENSMUST00000109525]
|
AlphaFold |
Q9D3U0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020520
|
SMART Domains |
Protein: ENSMUSP00000020520 Gene: ENSMUSG00000020280
Domain | Start | End | E-Value | Type |
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000058163
|
SMART Domains |
Protein: ENSMUSP00000050395 Gene: ENSMUSG00000020280
Domain | Start | End | E-Value | Type |
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109525
|
SMART Domains |
Protein: ENSMUSP00000105151 Gene: ENSMUSG00000020280
Domain | Start | End | E-Value | Type |
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142287
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
probably null |
Het |
|
Other mutations in Pus10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02260:Pus10
|
APN |
11 |
23,657,548 (GRCm39) |
nonsense |
probably null |
|
IGL02304:Pus10
|
APN |
11 |
23,662,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02466:Pus10
|
APN |
11 |
23,675,574 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02967:Pus10
|
APN |
11 |
23,668,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03233:Pus10
|
APN |
11 |
23,662,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03300:Pus10
|
APN |
11 |
23,681,368 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4486001:Pus10
|
UTSW |
11 |
23,662,326 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4677001:Pus10
|
UTSW |
11 |
23,670,171 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0166:Pus10
|
UTSW |
11 |
23,617,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Pus10
|
UTSW |
11 |
23,623,331 (GRCm39) |
unclassified |
probably benign |
|
R0519:Pus10
|
UTSW |
11 |
23,661,201 (GRCm39) |
missense |
probably benign |
0.02 |
R1583:Pus10
|
UTSW |
11 |
23,623,239 (GRCm39) |
missense |
probably damaging |
0.96 |
R1714:Pus10
|
UTSW |
11 |
23,675,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R1941:Pus10
|
UTSW |
11 |
23,661,198 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3687:Pus10
|
UTSW |
11 |
23,617,334 (GRCm39) |
missense |
probably benign |
|
R3688:Pus10
|
UTSW |
11 |
23,617,334 (GRCm39) |
missense |
probably benign |
|
R3854:Pus10
|
UTSW |
11 |
23,653,003 (GRCm39) |
critical splice donor site |
probably null |
|
R4064:Pus10
|
UTSW |
11 |
23,678,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R4276:Pus10
|
UTSW |
11 |
23,656,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R4655:Pus10
|
UTSW |
11 |
23,622,707 (GRCm39) |
missense |
probably benign |
0.02 |
R5302:Pus10
|
UTSW |
11 |
23,617,416 (GRCm39) |
critical splice donor site |
probably null |
|
R5580:Pus10
|
UTSW |
11 |
23,622,556 (GRCm39) |
missense |
probably benign |
0.16 |
R6196:Pus10
|
UTSW |
11 |
23,622,638 (GRCm39) |
missense |
probably benign |
0.15 |
R6549:Pus10
|
UTSW |
11 |
23,679,075 (GRCm39) |
critical splice donor site |
probably null |
|
R6722:Pus10
|
UTSW |
11 |
23,652,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6724:Pus10
|
UTSW |
11 |
23,679,037 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9140:Pus10
|
UTSW |
11 |
23,622,625 (GRCm39) |
missense |
probably benign |
0.00 |
R9351:Pus10
|
UTSW |
11 |
23,617,311 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Pus10
|
UTSW |
11 |
23,656,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Pus10
|
UTSW |
11 |
23,661,202 (GRCm39) |
missense |
possibly damaging |
0.88 |
X0064:Pus10
|
UTSW |
11 |
23,658,743 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGAAGCCCTATTACTCTCATACTC -3'
(R):5'- GCACATCCATCCTTACCTGG -3'
Sequencing Primer
(F):5'- ACTAAGCTCTCAGTCCTGGAG -3'
(R):5'- CTTACCTGGTGACAAGCTGCAAG -3'
|
Posted On |
2015-05-14 |