Incidental Mutation 'R2292:Mphosph10'
| ID |
245036 |
| 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 |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
64026289-64041984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64035519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 384
(P384L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
|
| AlphaFold |
Q810V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032735
AA Change: P384L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
AA Change: P384L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpp10
|
20 |
654 |
6.9e-217 |
PFAM |
|
low complexity region
|
666 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206047
|
| Meta Mutation Damage Score |
0.7402 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably 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 |
|
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 |
|
R9705:Mphosph10
|
UTSW |
7 |
64,027,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACTCAAAATCTTTCTGAAAGG -3'
(R):5'- GTCAAGAGCCAGTCTCCATC -3'
Sequencing Primer
(F):5'- TCTGAAAGGAACTACAGAAAAGCAC -3'
(R):5'- TAATGCAGCATACCAGTGGCTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation