Incidental Mutation 'R9705:Mphosph10'
| ID |
729754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mphosph10
|
| Ensembl Gene |
ENSMUSG00000030521 |
| Gene Name |
M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) |
| Synonyms |
2810453H10Rik, 5730405D16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R9705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64026289-64041984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64027031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 594
(E594G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000163289]
|
| AlphaFold |
Q810V0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032735
AA Change: E594G
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
AA Change: E594G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpp10
|
20 |
654 |
6.9e-217 |
PFAM |
|
low complexity region
|
666 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163289
|
| SMART Domains |
Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ihga1
|
600 |
737 |
5e-5 |
SMART |
|
Blast:VRR_NUC
|
834 |
867 |
2e-12 |
BLAST |
|
VRR_NUC
|
896 |
1011 |
1.99e-37 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
| Aff1 |
T |
G |
5: 103,932,276 (GRCm39) |
L298R |
possibly damaging |
Het |
| B4galt1 |
T |
C |
4: 40,853,474 (GRCm39) |
K111R |
probably benign |
Het |
| Brap |
A |
G |
5: 121,801,373 (GRCm39) |
T87A |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,493 (GRCm39) |
Q61L |
probably benign |
Het |
| Ccar2 |
C |
A |
14: 70,380,383 (GRCm39) |
C399F |
probably damaging |
Het |
| Cdh15 |
C |
A |
8: 123,591,024 (GRCm39) |
D424E |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,784,788 (GRCm39) |
V424I |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,465,313 (GRCm39) |
A954V |
unknown |
Het |
| Cul9 |
T |
G |
17: 46,854,226 (GRCm39) |
T159P |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,033,120 (GRCm39) |
E164G |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,094,770 (GRCm39) |
L766R |
probably damaging |
Het |
| Drd5 |
T |
C |
5: 38,478,027 (GRCm39) |
V340A |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,596,715 (GRCm39) |
E921K |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,371,921 (GRCm39) |
R106K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,823,634 (GRCm39) |
T6456A |
probably benign |
Het |
| H2ac1 |
A |
G |
13: 24,118,728 (GRCm39) |
N95S |
probably benign |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,642 (GRCm39) |
N112S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hoxc9 |
T |
A |
15: 102,890,362 (GRCm39) |
M93K |
possibly damaging |
Het |
| Hsd17b4 |
A |
C |
18: 50,324,791 (GRCm39) |
K668T |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,772,890 (GRCm39) |
V728A |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,508,913 (GRCm39) |
R392W |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Mrm2 |
G |
A |
5: 140,316,990 (GRCm39) |
R15W |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,799,679 (GRCm39) |
D994V |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Odam |
T |
A |
5: 88,037,228 (GRCm39) |
F141I |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,962 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,841 (GRCm39) |
L59Q |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 173,000,170 (GRCm39) |
S534T |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,437,414 (GRCm39) |
F528L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Ptpn13 |
T |
C |
5: 103,681,221 (GRCm39) |
L807S |
possibly damaging |
Het |
| Ramp2 |
T |
A |
11: 101,137,369 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,646,561 (GRCm39) |
K275N |
possibly damaging |
Het |
| Rusc2 |
A |
C |
4: 43,424,936 (GRCm39) |
N1131T |
probably benign |
Het |
| Snapc1 |
G |
T |
12: 74,015,150 (GRCm39) |
K161N |
probably damaging |
Het |
| Spag8 |
G |
A |
4: 43,652,366 (GRCm39) |
H325Y |
possibly damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,710,989 (GRCm39) |
V773M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,045,225 (GRCm39) |
D519G |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,361,018 (GRCm39) |
Y459C |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,208 (GRCm39) |
S156G |
probably benign |
Het |
| Ubb |
A |
G |
11: 62,443,375 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,933,039 (GRCm39) |
I200V |
possibly damaging |
Het |
| Zfp27 |
C |
A |
7: 29,595,342 (GRCm39) |
V208F |
possibly damaging |
Het |
|
| Other mutations in Mphosph10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Mphosph10
|
APN |
7 |
64,039,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02113:Mphosph10
|
APN |
7 |
64,026,555 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02615:Mphosph10
|
APN |
7 |
64,030,793 (GRCm39) |
splice site |
probably benign |
|
|
R0280:Mphosph10
|
UTSW |
7 |
64,026,451 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0372:Mphosph10
|
UTSW |
7 |
64,038,603 (GRCm39) |
unclassified |
probably benign |
|
|
R0503:Mphosph10
|
UTSW |
7 |
64,039,641 (GRCm39) |
missense |
probably benign |
|
|
R0548:Mphosph10
|
UTSW |
7 |
64,028,548 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1158:Mphosph10
|
UTSW |
7 |
64,038,607 (GRCm39) |
unclassified |
probably benign |
|
|
R1271:Mphosph10
|
UTSW |
7 |
64,039,832 (GRCm39) |
splice site |
probably null |
|
|
R1447:Mphosph10
|
UTSW |
7 |
64,030,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Mphosph10
|
UTSW |
7 |
64,039,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Mphosph10
|
UTSW |
7 |
64,041,918 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1900:Mphosph10
|
UTSW |
7 |
64,030,776 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1997:Mphosph10
|
UTSW |
7 |
64,037,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2058:Mphosph10
|
UTSW |
7 |
64,026,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Mphosph10
|
UTSW |
7 |
64,026,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Mphosph10
|
UTSW |
7 |
64,035,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Mphosph10
|
UTSW |
7 |
64,038,722 (GRCm39) |
splice site |
probably null |
|
|
R4817:Mphosph10
|
UTSW |
7 |
64,041,969 (GRCm39) |
unclassified |
probably benign |
|
|
R4968:Mphosph10
|
UTSW |
7 |
64,032,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Mphosph10
|
UTSW |
7 |
64,039,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Mphosph10
|
UTSW |
7 |
64,035,568 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5304:Mphosph10
|
UTSW |
7 |
64,038,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Mphosph10
|
UTSW |
7 |
64,039,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6179:Mphosph10
|
UTSW |
7 |
64,028,529 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6360:Mphosph10
|
UTSW |
7 |
64,039,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6632:Mphosph10
|
UTSW |
7 |
64,035,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Mphosph10
|
UTSW |
7 |
64,038,669 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8531:Mphosph10
|
UTSW |
7 |
64,034,076 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8844:Mphosph10
|
UTSW |
7 |
64,027,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTAGTTGAGAAACAGCCC -3'
(R):5'- CGTCTCATCCCTTAGCAGACAG -3'
Sequencing Primer
(F):5'- TAGTTGAGAAACAGCCCAATGC -3'
(R):5'- CTTAGCAGACAGAGTTCATTCCAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation