Incidental Mutation 'R6722:Pus10'
| ID |
529646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pus10
|
| Ensembl Gene |
ENSMUSG00000020280 |
| Gene Name |
pseudouridylate synthase 10 |
| Synonyms |
Ccdc139, 4933435A13Rik, 2810013G11Rik |
| MMRRC Submission |
044840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23615674-23682876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23652975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 195
(E195K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020520]
[ENSMUST00000058163]
[ENSMUST00000109525]
|
| AlphaFold |
Q9D3U0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020520
AA Change: E195K
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280
AA Change: E195K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058163
AA Change: E195K
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280
AA Change: E195K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109525
AA Change: E195K
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280
AA Change: E195K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V9K|A
|
1 |
527 |
N/A |
PDB |
|
| Meta Mutation Damage Score |
0.1344 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (52/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
| Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
| Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
| Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
| Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
| Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
| Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
| Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
| Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
| Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
| Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
| Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
| Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
| Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
| Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
| Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
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 |
|
R4127:Pus10
|
UTSW |
11 |
23,668,654 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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'- AAAATGCCAGTTCTTTGCTGTC -3'
(R):5'- GGATCACAAATAAGAGGCCTTAAC -3'
Sequencing Primer
(F):5'- TGCCTGACACATAGTAGGTACTCG -3'
(R):5'- GAGGCCTTAACATCAATTTAGAGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation