Incidental Mutation 'R1677:Cenpc1'
ID 188174
Institutional Source Beutler Lab
Gene Symbol Cenpc1
Ensembl Gene ENSMUSG00000029253
Gene Name centromere protein C1
Synonyms
MMRRC Submission 039713-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1677 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 86159883-86213442 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 86209857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031170]
AlphaFold P49452
Predicted Effect probably benign
Transcript: ENSMUST00000031170
SMART Domains Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253

DomainStartEndE-ValueType
Pfam:CENP_C_N 7 121 6.1e-42 PFAM
Pfam:CENP_C_N 115 261 2.6e-46 PFAM
Pfam:CENP-C_mid 265 519 5.4e-100 PFAM
PDB:4INM|W 700 724 5e-9 PDB
Pfam:CENP-C_C 819 903 3.9e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199619
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (95/95)
MGI Phenotype FUNCTION: This gene encodes a centromeric protein component of a nucleosome-associated complex that plays a central role in kinetochore protein assembly, mitotic progression and chromosome segregation. The human ortholog encodes a protein with DNA-binding activity, that associates constitutively to kinetochores throughout the cell cycle, as part of a prekinetochore complex, together with centromeric protein-A and centromeric protein-B. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
4931406C07Rik T C 9: 15,212,660 (GRCm39) probably null Het
A430005L14Rik G A 4: 154,045,357 (GRCm39) V129M probably damaging Het
Actg2 T C 6: 83,499,801 (GRCm39) T150A possibly damaging Het
Actn1 A T 12: 80,306,806 (GRCm39) D20E probably benign Het
Alcam C T 16: 52,091,136 (GRCm39) E461K probably damaging Het
Anapc1 G A 2: 128,518,128 (GRCm39) P242L probably benign Het
Ankrd49 A T 9: 14,692,674 (GRCm39) D163E probably benign Het
Atp8b5 G A 4: 43,372,903 (GRCm39) R1149Q possibly damaging Het
Cacnb3 G T 15: 98,540,455 (GRCm39) V328F probably damaging Het
Camk4 T C 18: 33,309,275 (GRCm39) I226T probably damaging Het
Ccdc148 T C 2: 58,892,176 (GRCm39) D172G probably damaging Het
Cdh12 A G 15: 21,520,491 (GRCm39) I319V probably damaging Het
Cfap69 A C 5: 5,632,457 (GRCm39) N15K probably damaging Het
Ckap2l A C 2: 129,127,087 (GRCm39) S364A possibly damaging Het
Clic6 G A 16: 92,324,972 (GRCm39) G36R probably damaging Het
Col6a3 T C 1: 90,749,583 (GRCm39) Y417C probably benign Het
Cstf3 T A 2: 104,494,623 (GRCm39) probably benign Het
Cyp4f39 G A 17: 32,711,304 (GRCm39) A484T probably benign Het
Dnah3 T C 7: 119,527,963 (GRCm39) N3829D probably damaging Het
Dntt C A 19: 41,017,923 (GRCm39) P16T probably benign Het
Dym T A 18: 75,258,583 (GRCm39) I447N probably damaging Het
Elmo1 T C 13: 20,773,841 (GRCm39) V617A probably benign Het
Elovl7 G A 13: 108,419,160 (GRCm39) G264D probably damaging Het
Epha7 T A 4: 28,947,571 (GRCm39) Y610* probably null Het
Fn1 T C 1: 71,636,814 (GRCm39) I178V probably benign Het
Fndc9 T C 11: 46,129,152 (GRCm39) Y224H probably benign Het
Gad1 T C 2: 70,404,521 (GRCm39) V137A probably damaging Het
Gapvd1 A G 2: 34,590,773 (GRCm39) probably null Het
Gbp11 C T 5: 105,475,277 (GRCm39) C357Y probably damaging Het
Gcc1 G A 6: 28,419,163 (GRCm39) A390V probably benign Het
Gm6811 A G 17: 21,314,185 (GRCm39) noncoding transcript Het
Htt A T 5: 34,985,918 (GRCm39) D1063V probably damaging Het
Igfn1 C T 1: 135,898,839 (GRCm39) A576T probably damaging Het
Il12rb2 T C 6: 67,280,485 (GRCm39) Y240C probably damaging Het
Itga3 T C 11: 94,946,585 (GRCm39) D747G probably damaging Het
Kcnip2 A C 19: 45,782,979 (GRCm39) D134E probably damaging Het
Kif2b C A 11: 91,466,798 (GRCm39) R495I probably damaging Het
Lef1 T C 3: 130,993,938 (GRCm39) probably benign Het
Lias C T 5: 65,548,981 (GRCm39) R4C probably damaging Het
Lpcat2 T C 8: 93,591,560 (GRCm39) V68A probably benign Het
Lrrc37 A T 11: 103,505,768 (GRCm39) S2067T probably benign Het
Lrrc8e A T 8: 4,284,190 (GRCm39) K138N probably damaging Het
Map4k5 G A 12: 69,852,082 (GRCm39) H767Y probably benign Het
Mga C A 2: 119,791,333 (GRCm39) T2406K possibly damaging Het
Mtx1 A T 3: 89,116,648 (GRCm39) S418T probably benign Het
Myh7 C T 14: 55,224,973 (GRCm39) M531I probably benign Het
Myorg C T 4: 41,497,947 (GRCm39) R561H probably benign Het
Ncaph2 T A 15: 89,255,427 (GRCm39) M555K probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Ncoa6 T C 2: 155,244,584 (GRCm39) probably benign Het
Nrp2 A G 1: 62,822,479 (GRCm39) S691G probably benign Het
Odad2 T C 18: 7,222,554 (GRCm39) T572A probably benign Het
Odf2l A T 3: 144,845,543 (GRCm39) probably null Het
Or5aq6 T A 2: 86,923,081 (GRCm39) H220L probably benign Het
Pcdh20 A G 14: 88,705,410 (GRCm39) V630A probably damaging Het
Pebp4 T C 14: 70,285,923 (GRCm39) probably null Het
Ppfia3 T A 7: 45,006,090 (GRCm39) M301L probably benign Het
Ppp1r21 C A 17: 88,858,097 (GRCm39) Q203K probably benign Het
Prr23a1 T C 9: 98,725,406 (GRCm39) V256A probably benign Het
Rbfox1 A G 16: 7,110,091 (GRCm39) R150G possibly damaging Het
Rnps1-ps A T 6: 7,982,943 (GRCm39) noncoding transcript Het
Robo3 T C 9: 37,329,005 (GRCm39) R1238G possibly damaging Het
Rp9 T G 9: 22,365,097 (GRCm39) Q35P probably damaging Het
Rsrc1 C A 3: 67,262,808 (GRCm39) A254E probably damaging Het
Shtn1 T A 19: 58,998,222 (GRCm39) K390N probably damaging Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Sirt7 A G 11: 120,515,365 (GRCm39) V97A possibly damaging Het
Slc14a2 A G 18: 78,206,419 (GRCm39) S466P probably benign Het
Slc2a10 T A 2: 165,357,361 (GRCm39) D340E probably benign Het
Slc36a2 A C 11: 55,075,735 (GRCm39) N17K probably benign Het
Slc4a10 A C 2: 62,155,071 (GRCm39) N1086T probably benign Het
Sptb T C 12: 76,676,423 (GRCm39) D177G probably damaging Het
Srpk2 A T 5: 23,730,748 (GRCm39) probably null Het
Sucla2 T G 14: 73,830,121 (GRCm39) V386G probably damaging Het
Susd1 G T 4: 59,424,089 (GRCm39) N45K possibly damaging Het
Tbxas1 T C 6: 38,994,822 (GRCm39) probably benign Het
Topors C T 4: 40,261,776 (GRCm39) E503K probably damaging Het
Trpv5 T C 6: 41,634,731 (GRCm39) R533G probably benign Het
Tshr A G 12: 91,504,115 (GRCm39) H351R possibly damaging Het
Ube2f G A 1: 91,203,037 (GRCm39) V94M probably damaging Het
Ugdh A G 5: 65,580,521 (GRCm39) S216P probably damaging Het
Unc45b T A 11: 82,802,531 (GRCm39) probably null Het
Vmn1r226 A G 17: 20,908,335 (GRCm39) E189G probably damaging Het
Xrcc6 T G 15: 81,913,900 (GRCm39) D75E probably benign Het
Ypel1 A G 16: 16,921,474 (GRCm39) L70P probably damaging Het
Zcwpw1 A T 5: 137,795,022 (GRCm39) R73W probably damaging Het
Zfp219 T C 14: 52,246,512 (GRCm39) E160G probably damaging Het
Zfp804b G T 5: 7,229,533 (GRCm39) probably benign Het
Zscan22 C A 7: 12,640,730 (GRCm39) P325T probably damaging Het
Other mutations in Cenpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Cenpc1 APN 5 86,185,387 (GRCm39) missense probably benign 0.02
IGL01287:Cenpc1 APN 5 86,170,313 (GRCm39) nonsense probably null
IGL01363:Cenpc1 APN 5 86,194,390 (GRCm39) nonsense probably null
IGL01720:Cenpc1 APN 5 86,193,284 (GRCm39) missense possibly damaging 0.84
IGL02217:Cenpc1 APN 5 86,177,059 (GRCm39) splice site probably benign
IGL02665:Cenpc1 APN 5 86,194,262 (GRCm39) missense probably benign 0.01
IGL03022:Cenpc1 APN 5 86,170,234 (GRCm39) splice site probably benign
IGL03162:Cenpc1 APN 5 86,185,764 (GRCm39) missense possibly damaging 0.94
IGL03343:Cenpc1 APN 5 86,164,181 (GRCm39) missense probably damaging 0.96
R0130:Cenpc1 UTSW 5 86,194,405 (GRCm39) missense probably benign 0.07
R0193:Cenpc1 UTSW 5 86,180,262 (GRCm39) missense probably benign 0.30
R0314:Cenpc1 UTSW 5 86,185,230 (GRCm39) missense probably benign 0.20
R0932:Cenpc1 UTSW 5 86,185,459 (GRCm39) missense possibly damaging 0.94
R0973:Cenpc1 UTSW 5 86,185,767 (GRCm39) missense probably damaging 1.00
R0973:Cenpc1 UTSW 5 86,185,767 (GRCm39) missense probably damaging 1.00
R0974:Cenpc1 UTSW 5 86,185,767 (GRCm39) missense probably damaging 1.00
R1240:Cenpc1 UTSW 5 86,183,369 (GRCm39) missense probably benign 0.32
R1454:Cenpc1 UTSW 5 86,161,369 (GRCm39) missense possibly damaging 0.71
R2044:Cenpc1 UTSW 5 86,185,614 (GRCm39) missense probably benign 0.01
R2256:Cenpc1 UTSW 5 86,164,062 (GRCm39) missense probably damaging 1.00
R3085:Cenpc1 UTSW 5 86,185,476 (GRCm39) missense probably benign 0.01
R4516:Cenpc1 UTSW 5 86,195,446 (GRCm39) missense possibly damaging 0.72
R4518:Cenpc1 UTSW 5 86,195,446 (GRCm39) missense possibly damaging 0.72
R4561:Cenpc1 UTSW 5 86,195,491 (GRCm39) missense probably damaging 1.00
R4827:Cenpc1 UTSW 5 86,182,290 (GRCm39) missense possibly damaging 0.67
R4864:Cenpc1 UTSW 5 86,193,180 (GRCm39) missense probably damaging 1.00
R5222:Cenpc1 UTSW 5 86,185,606 (GRCm39) missense possibly damaging 0.77
R5707:Cenpc1 UTSW 5 86,183,293 (GRCm39) missense possibly damaging 0.82
R5920:Cenpc1 UTSW 5 86,168,769 (GRCm39) missense probably benign 0.00
R5999:Cenpc1 UTSW 5 86,160,122 (GRCm39) missense probably damaging 1.00
R6073:Cenpc1 UTSW 5 86,206,012 (GRCm39) critical splice donor site probably null
R6209:Cenpc1 UTSW 5 86,181,509 (GRCm39) missense probably benign 0.02
R6244:Cenpc1 UTSW 5 86,194,244 (GRCm39) missense probably damaging 1.00
R6278:Cenpc1 UTSW 5 86,183,394 (GRCm39) missense probably damaging 0.97
R6395:Cenpc1 UTSW 5 86,183,429 (GRCm39) missense probably benign 0.14
R7269:Cenpc1 UTSW 5 86,180,277 (GRCm39) missense probably benign 0.12
R7269:Cenpc1 UTSW 5 86,161,366 (GRCm39) missense probably damaging 1.00
R7335:Cenpc1 UTSW 5 86,182,212 (GRCm39) missense possibly damaging 0.95
R7378:Cenpc1 UTSW 5 86,194,358 (GRCm39) missense probably benign 0.02
R7968:Cenpc1 UTSW 5 86,181,551 (GRCm39) missense probably benign
R8380:Cenpc1 UTSW 5 86,194,275 (GRCm39) missense probably benign 0.00
R8780:Cenpc1 UTSW 5 86,164,209 (GRCm39) missense probably damaging 1.00
R8859:Cenpc1 UTSW 5 86,160,153 (GRCm39) missense probably benign 0.02
R8982:Cenpc1 UTSW 5 86,195,533 (GRCm39) missense probably damaging 1.00
R9157:Cenpc1 UTSW 5 86,166,316 (GRCm39) missense probably benign 0.00
RF018:Cenpc1 UTSW 5 86,193,228 (GRCm39) missense possibly damaging 0.94
Predicted Primers
Posted On 2014-05-09