Incidental Mutation 'IGL01553:Cenpp'
ID90644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpp
Ensembl Gene ENSMUSG00000021391
Gene Namecentromere protein P
Synonyms1700022C02Rik, 4921518G09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.402) question?
Stock #IGL01553
Quality Score
Status
Chromosome13
Chromosomal Location49464023-49652785 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 49464776 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 218 (V218M)
Ref Sequence ENSEMBL: ENSMUSP00000021818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000021818] [ENSMUST00000220447] [ENSMUST00000220856]
Predicted Effect probably benign
Transcript: ENSMUST00000021817
SMART Domains Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385

DomainStartEndE-ValueType
Pfam:Ins_P5_2-kin 13 455 1.9e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000021818
AA Change: V218M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
AA Change: V218M

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
Pfam:CENP-P 102 278 3.9e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220447
Predicted Effect probably benign
Transcript: ENSMUST00000220856
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,194,775 H117Q probably damaging Het
Arhgap44 T C 11: 65,053,118 N189S probably damaging Het
Bach1 T A 16: 87,722,505 I561N probably damaging Het
Bsph2 G T 7: 13,556,720 T78K probably damaging Het
Ccdc178 A G 18: 21,915,006 Y776H probably damaging Het
Ccdc7a T C 8: 129,026,591 probably benign Het
Dnmt3l A G 10: 78,063,248 S94G probably benign Het
Dock7 A T 4: 98,945,566 Y1871* probably null Het
Fam129c G T 8: 71,602,902 A319S possibly damaging Het
Gabra6 T A 11: 42,315,196 T278S probably damaging Het
Galnt11 G A 5: 25,247,720 D77N probably benign Het
Gm17175 T C 14: 51,570,822 D171G probably benign Het
Iqch T C 9: 63,500,917 N655S probably benign Het
Kdm1b T A 13: 47,080,548 I786N probably damaging Het
Macf1 G A 4: 123,493,163 Q1221* probably null Het
Mbtd1 T A 11: 93,923,214 C228S probably benign Het
Myo10 T C 15: 25,776,329 L689P probably damaging Het
Nup133 A G 8: 123,915,324 V800A possibly damaging Het
Olfr191 G T 16: 59,086,322 H54N probably benign Het
Prkca C T 11: 108,057,834 G110R probably benign Het
Samd9l A T 6: 3,375,566 M565K probably damaging Het
Scgn T C 13: 23,959,679 Q234R probably benign Het
Serpinb6b T C 13: 32,974,948 L163P probably damaging Het
Tfrc T C 16: 32,628,585 V673A probably benign Het
Tsfm G A 10: 127,028,390 T152M probably benign Het
Wdfy3 A T 5: 101,900,031 C1803S probably benign Het
Other mutations in Cenpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Cenpp APN 13 49647656 unclassified probably null
IGL01323:Cenpp APN 13 49647642 missense probably damaging 1.00
IGL01397:Cenpp APN 13 49641283 missense probably damaging 1.00
IGL02489:Cenpp APN 13 49650118 splice site probably null
IGL03024:Cenpp APN 13 49464254 missense probably benign 0.16
R0218:Cenpp UTSW 13 49647632 missense possibly damaging 0.57
R0660:Cenpp UTSW 13 49464697 missense probably benign 0.00
R1868:Cenpp UTSW 13 49641283 missense probably damaging 1.00
R4097:Cenpp UTSW 13 49493789 intron possibly damaging 0.88
R4377:Cenpp UTSW 13 49494431 intron probably benign
R4595:Cenpp UTSW 13 49641234 missense probably benign 0.09
R5173:Cenpp UTSW 13 49464782 frame shift probably null
R5174:Cenpp UTSW 13 49464782 frame shift probably null
R5953:Cenpp UTSW 13 49652685 missense probably damaging 0.99
Z1088:Cenpp UTSW 13 49647658 splice site probably null
Posted On2013-12-09