Incidental Mutation 'R6238:Cenpo'
ID 505068
Institutional Source Beutler Lab
Gene Symbol Cenpo
Ensembl Gene ENSMUSG00000020652
Gene Name centromere protein O
Synonyms 8430427C03Rik, 2810429O05Rik, D12Ertd482e
MMRRC Submission 044401-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6238 (G1)
Quality Score 170.009
Status Validated
Chromosome 12
Chromosomal Location 4246004-4284294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4281968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 10 (S10C)
Ref Sequence ENSEMBL: ENSMUSP00000121258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000111169] [ENSMUST00000128466] [ENSMUST00000140975] [ENSMUST00000179139]
AlphaFold Q8K015
Predicted Effect probably benign
Transcript: ENSMUST00000020981
SMART Domains Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
Pfam:CENP-O 1 74 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111169
SMART Domains Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 118 195 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126017
Predicted Effect possibly damaging
Transcript: ENSMUST00000128466
AA Change: S10C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652
AA Change: S10C

DomainStartEndE-ValueType
coiled coil region 40 75 N/A INTRINSIC
Pfam:CENP-O 119 196 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140975
SMART Domains Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652

DomainStartEndE-ValueType
coiled coil region 39 74 N/A INTRINSIC
Pfam:CENP-O 117 231 9.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179139
SMART Domains Protein: ENSMUSP00000137070
Gene: ENSMUSG00000096199

DomainStartEndE-ValueType
Pfam:PTH2 25 139 2.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219991
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,096 (GRCm39) T2P possibly damaging Het
2610042L04Rik A G 14: 4,348,962 (GRCm38) N41S probably damaging Het
4933402N03Rik T C 7: 130,747,863 (GRCm39) D43G probably benign Het
Adcy10 C A 1: 165,403,297 (GRCm39) Y1598* probably null Het
Adgrv1 G A 13: 81,614,402 (GRCm39) T3997M probably benign Het
Amfr A C 8: 94,726,992 (GRCm39) F74V probably damaging Het
Ankrd13a T C 5: 114,924,787 (GRCm39) Y91H probably benign Het
Baiap3 A G 17: 25,464,732 (GRCm39) S767P probably benign Het
Car12 C T 9: 66,661,008 (GRCm39) T124I probably damaging Het
Casp9 G T 4: 141,534,448 (GRCm39) G286V probably damaging Het
Cc2d2a T A 5: 43,828,577 (GRCm39) D18E probably benign Het
Cdc27 T C 11: 104,419,270 (GRCm39) N221D probably damaging Het
Cebpz A G 17: 79,244,339 (GRCm39) S41P possibly damaging Het
Chid1 A G 7: 141,076,049 (GRCm39) V368A probably benign Het
Clca3a1 C A 3: 144,714,716 (GRCm39) V634L probably benign Het
Cmtr1 A G 17: 29,901,122 (GRCm39) D683G probably damaging Het
Cpsf3 G T 12: 21,350,163 (GRCm39) R294L probably damaging Het
Ddrgk1 G A 2: 130,496,599 (GRCm39) T255M possibly damaging Het
Dennd6a T A 14: 26,337,813 (GRCm39) probably null Het
Dnah10 A G 5: 124,820,743 (GRCm39) R526G probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Efcab10 T C 12: 33,448,433 (GRCm39) Y89H probably damaging Het
Etl4 T A 2: 20,806,379 (GRCm39) D1200E probably damaging Het
Fbn1 T A 2: 125,166,865 (GRCm39) D2017V probably damaging Het
Ftmt G A 18: 52,465,307 (GRCm39) V208M probably damaging Het
Fzd10 T C 5: 128,679,995 (GRCm39) Y572H probably damaging Het
Gcc1 T C 6: 28,420,742 (GRCm39) K39E probably damaging Het
Hydin A G 8: 111,118,743 (GRCm39) probably null Het
Lif A G 11: 4,218,940 (GRCm39) E73G possibly damaging Het
Lrtm1 C A 14: 28,749,628 (GRCm39) Q357K probably benign Het
Mef2d T A 3: 88,066,852 (GRCm39) L205Q probably damaging Het
Naalad2 T A 9: 18,296,361 (GRCm39) E96D probably damaging Het
Nbas T C 12: 13,532,596 (GRCm39) I1768T probably benign Het
Nodal T C 10: 61,259,258 (GRCm39) S232P probably damaging Het
Or52ab7 A T 7: 102,978,115 (GRCm39) I141F possibly damaging Het
Or8b12c A G 9: 37,715,317 (GRCm39) T37A probably benign Het
Parl G A 16: 20,120,963 (GRCm39) R39C possibly damaging Het
Pcdha9 G A 18: 37,132,028 (GRCm39) V366I probably benign Het
Pdzd8 A G 19: 59,288,994 (GRCm39) V802A probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Plxna2 T A 1: 194,472,504 (GRCm39) S1083T probably benign Het
Polr2a G T 11: 69,638,047 (GRCm39) L141I possibly damaging Het
Ptpre C A 7: 135,272,909 (GRCm39) R468S probably damaging Het
Raet1e T A 10: 22,056,770 (GRCm39) N115K probably benign Het
Rfx8 C A 1: 39,709,554 (GRCm39) S491I probably damaging Het
Rpe T A 1: 66,740,807 (GRCm39) L48* probably null Het
Skint5 A T 4: 113,800,064 (GRCm39) probably null Het
Spata24 C A 18: 35,793,389 (GRCm39) S111I possibly damaging Het
Suz12 G C 11: 79,893,006 (GRCm39) probably benign Het
Taf4 T A 2: 179,573,832 (GRCm39) I679F probably damaging Het
Tlr1 G T 5: 65,084,472 (GRCm39) P35Q possibly damaging Het
Tonsl T C 15: 76,520,418 (GRCm39) probably null Het
Tsen54 G A 11: 115,711,513 (GRCm39) R310H probably benign Het
Ttc7b A G 12: 100,461,681 (GRCm39) S99P probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uhmk1 T A 1: 170,027,563 (GRCm39) N378I probably damaging Het
Vmn2r107 A G 17: 20,565,849 (GRCm39) T55A probably benign Het
Vmn2r74 C T 7: 85,601,280 (GRCm39) C786Y probably damaging Het
Wdr20rt C T 12: 65,272,964 (GRCm39) probably benign Het
Zfand2a T A 5: 139,467,746 (GRCm39) H42L probably damaging Het
Zfp990 T A 4: 145,264,483 (GRCm39) C494S probably damaging Het
Zkscan4 A T 13: 21,668,757 (GRCm39) R403W possibly damaging Het
Other mutations in Cenpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Cenpo APN 12 4,266,685 (GRCm39) missense probably benign 0.02
IGL01661:Cenpo APN 12 4,284,023 (GRCm39) splice site probably null
IGL02716:Cenpo APN 12 4,265,390 (GRCm39) missense possibly damaging 0.90
R0305:Cenpo UTSW 12 4,266,660 (GRCm39) missense possibly damaging 0.48
R0811:Cenpo UTSW 12 4,266,643 (GRCm39) missense probably benign 0.06
R0812:Cenpo UTSW 12 4,266,643 (GRCm39) missense probably benign 0.06
R1574:Cenpo UTSW 12 4,265,433 (GRCm39) splice site probably null
R1574:Cenpo UTSW 12 4,265,433 (GRCm39) splice site probably null
R1916:Cenpo UTSW 12 4,266,683 (GRCm39) missense probably benign 0.05
R2174:Cenpo UTSW 12 4,267,318 (GRCm39) missense probably benign 0.00
R5384:Cenpo UTSW 12 4,266,646 (GRCm39) missense probably damaging 1.00
R6211:Cenpo UTSW 12 4,266,733 (GRCm39) missense probably benign 0.22
R6630:Cenpo UTSW 12 4,267,236 (GRCm39) unclassified probably benign
R6862:Cenpo UTSW 12 4,266,539 (GRCm39) missense probably damaging 1.00
R7086:Cenpo UTSW 12 4,265,307 (GRCm39) missense probably benign 0.00
R7087:Cenpo UTSW 12 4,265,307 (GRCm39) missense probably benign 0.00
R7088:Cenpo UTSW 12 4,265,307 (GRCm39) missense probably benign 0.00
R7351:Cenpo UTSW 12 4,266,581 (GRCm39) missense probably damaging 0.99
R7790:Cenpo UTSW 12 4,264,597 (GRCm39) missense probably benign 0.00
R7877:Cenpo UTSW 12 4,264,573 (GRCm39) missense probably damaging 1.00
R9371:Cenpo UTSW 12 4,266,686 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TGGCAAAGCATACTCCACG -3'
(R):5'- CCAGCAGAGAGGTTAATGGTCTC -3'

Sequencing Primer
(F):5'- TGCTGTGCTAAACGCTGAC -3'
(R):5'- ATCTCTGTGAGTTCAAGGACAGCC -3'
Posted On 2018-02-28