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: 0.960)
|
| 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 |
Incidental Mutation