Incidental Mutation 'IGL00942:Mphosph10'
| ID |
27845 |
| 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 # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
64026289-64041984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64039503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000037205]
[ENSMUST00000206194]
[ENSMUST00000206882]
|
| AlphaFold |
Q810V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032735
AA Change: S156P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521
AA Change: S156P
| 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: ENSMUST00000037205
|
| SMART Domains |
Protein: ENSMUSP00000047855
Gene: ENSMUSG00000033429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
Pfam:Glyoxalase
|
49 |
175 |
2.7e-14 |
PFAM |
|
Pfam:Glyoxalase_3
|
50 |
166 |
5.1e-9 |
PFAM |
|
Pfam:Glyoxalase_4
|
51 |
162 |
1.2e-20 |
PFAM |
|
Pfam:Glyoxalase_2
|
55 |
175 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206138
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206882
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
| Other mutations in Mphosph10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9705:Mphosph10
|
UTSW |
7 |
64,027,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2013-04-17 |
Incidental Mutation