Incidental Mutation 'R3039:Pes1'
| ID |
264901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pes1
|
| Ensembl Gene |
ENSMUSG00000020430 |
| Gene Name |
pescadillo ribosomal biogenesis factor 1 |
| Synonyms |
|
| MMRRC Submission |
040555-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3039 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3913975-3930004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3925547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 221
(Y221H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020705]
[ENSMUST00000042344]
[ENSMUST00000109985]
|
| AlphaFold |
Q9EQ61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020705
AA Change: Y217H
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020705
Gene: ENSMUSG00000020430
AA Change: Y217H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pescadillo_N
|
6 |
286 |
5.1e-135 |
PFAM |
|
BRCT
|
323 |
404 |
4.81e-7 |
SMART |
|
coiled coil region
|
469 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042344
|
| SMART Domains |
Protein: ENSMUSP00000048953
Gene: ENSMUSG00000034493
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109985
AA Change: Y221H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105612
Gene: ENSMUSG00000020430
AA Change: Y221H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pescadillo_N
|
7 |
284 |
1.1e-130 |
PFAM |
|
BRCT
|
327 |
408 |
4.81e-7 |
SMART |
|
coiled coil region
|
473 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137544
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
PHENOTYPE: Targeted disuption of the mouse gene results in embryonic arrest at morula stages of development, as well as failure of nucleologenesis and disruption of ribosome biogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,830,797 (GRCm39) |
K64N |
unknown |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,317 (GRCm39) |
N228D |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,877,003 (GRCm39) |
S143P |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,228,758 (GRCm39) |
V2110A |
probably benign |
Het |
| Dusp29 |
A |
G |
14: 21,752,975 (GRCm39) |
V57A |
probably damaging |
Het |
| Gpat3 |
T |
C |
5: 101,045,671 (GRCm39) |
S432P |
possibly damaging |
Het |
| Lgi4 |
C |
T |
7: 30,759,492 (GRCm39) |
A16V |
probably benign |
Het |
| Nsmce1 |
T |
C |
7: 125,070,328 (GRCm39) |
E161G |
probably damaging |
Het |
| Pdgfa |
A |
G |
5: 138,972,114 (GRCm39) |
V95A |
probably benign |
Het |
| Phf19 |
T |
C |
2: 34,795,534 (GRCm39) |
E179G |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,744 (GRCm39) |
S4369P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,687,428 (GRCm39) |
I201T |
possibly damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
| Other mutations in Pes1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Pes1
|
APN |
11 |
3,926,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01448:Pes1
|
APN |
11 |
3,927,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
H8441:Pes1
|
UTSW |
11 |
3,927,636 (GRCm39) |
small deletion |
probably benign |
|
|
R0634:Pes1
|
UTSW |
11 |
3,927,795 (GRCm39) |
splice site |
probably benign |
|
|
R0634:Pes1
|
UTSW |
11 |
3,927,794 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Pes1
|
UTSW |
11 |
3,925,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Pes1
|
UTSW |
11 |
3,927,636 (GRCm39) |
small deletion |
probably benign |
|
|
R1435:Pes1
|
UTSW |
11 |
3,926,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Pes1
|
UTSW |
11 |
3,926,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Pes1
|
UTSW |
11 |
3,927,719 (GRCm39) |
small deletion |
probably benign |
|
|
R1885:Pes1
|
UTSW |
11 |
3,919,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Pes1
|
UTSW |
11 |
3,919,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Pes1
|
UTSW |
11 |
3,919,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Pes1
|
UTSW |
11 |
3,919,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Pes1
|
UTSW |
11 |
3,927,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2869:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2870:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2870:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2871:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2871:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2873:Pes1
|
UTSW |
11 |
3,926,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3024:Pes1
|
UTSW |
11 |
3,927,719 (GRCm39) |
small deletion |
probably benign |
|
|
R3195:Pes1
|
UTSW |
11 |
3,925,736 (GRCm39) |
splice site |
probably benign |
|
|
R3773:Pes1
|
UTSW |
11 |
3,925,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Pes1
|
UTSW |
11 |
3,927,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Pes1
|
UTSW |
11 |
3,914,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Pes1
|
UTSW |
11 |
3,927,719 (GRCm39) |
small deletion |
probably benign |
|
|
R6016:Pes1
|
UTSW |
11 |
3,928,004 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6351:Pes1
|
UTSW |
11 |
3,928,865 (GRCm39) |
missense |
probably benign |
|
|
R6921:Pes1
|
UTSW |
11 |
3,923,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7315:Pes1
|
UTSW |
11 |
3,926,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8178:Pes1
|
UTSW |
11 |
3,927,718 (GRCm39) |
missense |
probably benign |
|
|
R9599:Pes1
|
UTSW |
11 |
3,926,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCTGACAATTGACAGAGAAG -3'
(R):5'- ATAGTCTCTTGCCTCAGGGTG -3'
Sequencing Primer
(F):5'- GAGCACTGTAGATCCCCTTG -3'
(R):5'- CTTGCCTCAGGGTGGGGATAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation