Incidental Mutation 'IGL00942:Mphosph10'
ID27845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mphosph10
Ensembl Gene ENSMUSG00000030521
Gene NameM-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL00942
Quality Score
Status
Chromosome7
Chromosomal Location64376527-64392268 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64389755 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,436 S62P possibly damaging Het
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cacng1 A T 11: 107,704,369 F127L probably benign Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Iyd C T 10: 3,554,070 C239F probably damaging Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Matk A G 10: 81,258,294 D20G probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slco1a1 G A 6: 141,946,628 T4I probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in Mphosph10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Mphosph10 APN 7 64376807 unclassified probably benign
IGL02615:Mphosph10 APN 7 64381045 splice site probably benign
R0280:Mphosph10 UTSW 7 64376703 missense possibly damaging 0.92
R0372:Mphosph10 UTSW 7 64388855 unclassified probably benign
R0503:Mphosph10 UTSW 7 64389893 missense probably benign
R0548:Mphosph10 UTSW 7 64378800 missense probably benign 0.45
R1158:Mphosph10 UTSW 7 64388859 unclassified probably benign
R1271:Mphosph10 UTSW 7 64390084 unclassified probably null
R1447:Mphosph10 UTSW 7 64380950 missense probably damaging 1.00
R1501:Mphosph10 UTSW 7 64389504 missense probably damaging 1.00
R1815:Mphosph10 UTSW 7 64392170 missense probably benign 0.05
R1900:Mphosph10 UTSW 7 64381028 missense possibly damaging 0.61
R1997:Mphosph10 UTSW 7 64387447 critical splice donor site probably null
R2058:Mphosph10 UTSW 7 64376751 missense probably damaging 1.00
R2059:Mphosph10 UTSW 7 64376751 missense probably damaging 1.00
R2292:Mphosph10 UTSW 7 64385771 missense probably damaging 1.00
R4658:Mphosph10 UTSW 7 64388974 unclassified probably null
R4817:Mphosph10 UTSW 7 64392221 unclassified probably benign
R4968:Mphosph10 UTSW 7 64382908 missense probably damaging 1.00
R5121:Mphosph10 UTSW 7 64389596 missense probably damaging 1.00
R5187:Mphosph10 UTSW 7 64385820 missense possibly damaging 0.49
R5304:Mphosph10 UTSW 7 64388984 missense probably damaging 1.00
R5469:Mphosph10 UTSW 7 64389445 critical splice donor site probably null
R6179:Mphosph10 UTSW 7 64378781 missense possibly damaging 0.66
R6360:Mphosph10 UTSW 7 64389955 missense probably benign 0.00
R6632:Mphosph10 UTSW 7 64385819 missense probably damaging 1.00
R6996:Mphosph10 UTSW 7 64388921 missense probably benign 0.07
Posted On2013-04-17