Incidental Mutation 'R1271:Mphosph10'
ID |
151306 |
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 |
039337-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R1271 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
64026289-64041984 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 64039832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032735]
[ENSMUST00000037205]
[ENSMUST00000206194]
[ENSMUST00000206882]
|
AlphaFold |
Q810V0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032735
AA Change: L46Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032735 Gene: ENSMUSG00000030521 AA Change: L46Q
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 null
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 null
Transcript: ENSMUST00000206194
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206882
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
A |
T |
1: 52,964,493 (GRCm39) |
D78E |
possibly damaging |
Het |
4930447C04Rik |
A |
T |
12: 72,939,657 (GRCm39) |
F419I |
possibly damaging |
Het |
Abca14 |
T |
C |
7: 119,924,340 (GRCm39) |
V1664A |
probably damaging |
Het |
Acadvl |
A |
G |
11: 69,905,526 (GRCm39) |
S71P |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,790,617 (GRCm39) |
C916S |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,989,985 (GRCm39) |
T164A |
probably benign |
Het |
Ccdc18 |
A |
T |
5: 108,349,982 (GRCm39) |
K1045* |
probably null |
Het |
Cemip2 |
T |
A |
19: 21,801,268 (GRCm39) |
I795N |
possibly damaging |
Het |
Cfap43 |
C |
T |
19: 47,728,183 (GRCm39) |
E1525K |
probably benign |
Het |
Cfap43 |
G |
T |
19: 47,736,387 (GRCm39) |
S1368Y |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,455 (GRCm39) |
I610L |
probably benign |
Het |
Des |
A |
T |
1: 75,337,290 (GRCm39) |
T77S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,394,123 (GRCm39) |
V853A |
probably benign |
Het |
Gabrg1 |
T |
A |
5: 70,934,487 (GRCm39) |
D292V |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,966,859 (GRCm39) |
N26S |
probably benign |
Het |
Gpsm1 |
G |
T |
2: 26,234,684 (GRCm39) |
R507L |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,982,137 (GRCm39) |
T155S |
probably benign |
Het |
Hapln3 |
T |
C |
7: 78,767,764 (GRCm39) |
D210G |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,030,762 (GRCm39) |
L1222P |
unknown |
Het |
Mup6 |
A |
T |
4: 60,003,579 (GRCm39) |
|
probably benign |
Het |
Nsmce1 |
T |
A |
7: 125,070,426 (GRCm39) |
E128D |
probably damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,475 (GRCm39) |
Y175* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,249,004 (GRCm39) |
S733T |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,692,013 (GRCm39) |
I377K |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,223,274 (GRCm39) |
L41Q |
probably damaging |
Het |
Tut7 |
A |
C |
13: 59,969,669 (GRCm39) |
N75K |
probably damaging |
Het |
Usp28 |
G |
A |
9: 48,947,261 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTAGGAACATCACCACCCTCGTC -3'
(R):5'- TTTTACGGTCTGGCTCATCAGCAG -3'
Sequencing Primer
(F):5'- GGAGAAGGCTGATATCTTCATCCTC -3'
(R):5'- GCTCATCAGCAGGGTACTG -3'
|
Posted On |
2014-01-29 |