Incidental Mutation 'IGL02113:Mphosph10'
| ID |
280272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mphosph10
|
| Ensembl Gene |
ENSMUSG00000030521 |
| Gene Name |
M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) |
| Synonyms |
2810453H10Rik, 5730405D16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL02113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
64026289-64041984 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 64026555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000163289]
|
| AlphaFold |
Q810V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032735
|
| SMART Domains |
Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206778
|
| Coding Region Coverage |
|
| 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 |
|---|
| Abca4 |
A |
T |
3: 121,904,127 (GRCm39) |
H726L |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,950,508 (GRCm39) |
Y900* |
probably null |
Het |
| Atp11a |
G |
T |
8: 12,915,048 (GRCm39) |
R1155S |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,686 (GRCm39) |
D435G |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,444 (GRCm39) |
T1403A |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,590 (GRCm39) |
|
probably null |
Het |
| Cog7 |
A |
G |
7: 121,524,703 (GRCm39) |
I697T |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dgki |
A |
G |
6: 36,890,560 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,792,868 (GRCm39) |
Y525C |
probably benign |
Het |
| Eepd1 |
T |
C |
9: 25,394,009 (GRCm39) |
L91P |
probably damaging |
Het |
| Foxf1 |
T |
A |
8: 121,811,304 (GRCm39) |
L56H |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,070 (GRCm39) |
M1074L |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,709,874 (GRCm39) |
T324A |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,064,349 (GRCm39) |
N646K |
probably benign |
Het |
| Gm10258 |
C |
T |
3: 30,322,542 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,473,692 (GRCm39) |
M53V |
probably benign |
Het |
| Hoxa11 |
C |
T |
6: 52,222,297 (GRCm39) |
G135S |
probably damaging |
Het |
| Mettl6 |
A |
T |
14: 31,204,788 (GRCm39) |
Y211* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,862,338 (GRCm39) |
I160M |
probably benign |
Het |
| Mrpl19 |
T |
A |
6: 81,942,896 (GRCm39) |
M5L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,899,913 (GRCm39) |
V1412A |
probably benign |
Het |
| Nceh1 |
G |
T |
3: 27,277,040 (GRCm39) |
S121I |
probably damaging |
Het |
| Ntan1 |
A |
G |
16: 13,653,008 (GRCm39) |
T217A |
probably damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,790,841 (GRCm39) |
A504V |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,735,057 (GRCm39) |
I111L |
possibly damaging |
Het |
| Pde3b |
G |
A |
7: 114,126,141 (GRCm39) |
V792M |
probably damaging |
Het |
| Pde9a |
A |
T |
17: 31,678,944 (GRCm39) |
M262L |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,191,279 (GRCm39) |
V206A |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,811,652 (GRCm39) |
N406K |
possibly damaging |
Het |
| Rcn3 |
A |
G |
7: 44,732,762 (GRCm39) |
I302T |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,108 (GRCm39) |
Q68R |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,371,301 (GRCm39) |
D340G |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,438,956 (GRCm39) |
G1638S |
probably damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,518,451 (GRCm39) |
H317L |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,950,054 (GRCm39) |
I466T |
probably benign |
Het |
| Smyd2 |
A |
T |
1: 189,614,414 (GRCm39) |
S371R |
probably damaging |
Het |
| Snap47 |
A |
C |
11: 59,319,262 (GRCm39) |
I292S |
probably damaging |
Het |
| Tbx4 |
A |
G |
11: 85,803,090 (GRCm39) |
E322G |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,179 (GRCm39) |
T1501A |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,543 (GRCm39) |
V300A |
probably benign |
Het |
| Usp7 |
A |
G |
16: 8,534,377 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,477,937 (GRCm39) |
T158K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,660,169 (GRCm39) |
A194S |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,047 (GRCm39) |
I400N |
possibly damaging |
Het |
| Zmynd12 |
T |
A |
4: 119,291,194 (GRCm39) |
I53K |
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 |
|
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 |
|
R9705:Mphosph10
|
UTSW |
7 |
64,027,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2015-04-16 |
Incidental Mutation