Incidental Mutation 'R2256:Cenpc1'
ID 243352
Institutional Source Beutler Lab
Gene Symbol Cenpc1
Ensembl Gene ENSMUSG00000029253
Gene Name centromere protein C1
Synonyms
MMRRC Submission 040256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2256 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 86159883-86213442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86164062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 853 (L853S)
Ref Sequence ENSEMBL: ENSMUSP00000031170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031170]
AlphaFold P49452
Predicted Effect probably damaging
Transcript: ENSMUST00000031170
AA Change: L853S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: L853S

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
Meta Mutation Damage Score 0.4812 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (97/99)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 9,008,431 (GRCm39) S1200P probably damaging Het
Acadsb A G 7: 131,045,382 (GRCm39) Y438C probably benign Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Actr3b A G 5: 26,027,403 (GRCm39) T113A possibly damaging Het
Adgrv1 T C 13: 81,654,259 (GRCm39) D2204G probably benign Het
Ago1 A G 4: 126,335,704 (GRCm39) V669A possibly damaging Het
Ang5 T A 14: 44,199,978 (GRCm39) L14Q probably null Het
Aoc1 T C 6: 48,883,374 (GRCm39) Y417H possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atf2 A T 2: 73,675,855 (GRCm39) probably null Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Bend5 A C 4: 111,288,207 (GRCm39) probably benign Het
Camkk2 T C 5: 122,884,398 (GRCm39) D341G probably damaging Het
Cast T A 13: 74,888,024 (GRCm39) I208L probably damaging Het
Ccdc141 A T 2: 76,962,606 (GRCm39) W113R probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cel A G 2: 28,451,204 (GRCm39) F51S probably damaging Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,637,310 (GRCm39) N1062K probably benign Het
Col3a1 A G 1: 45,360,792 (GRCm39) D74G unknown Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cox6a1 C T 5: 115,486,907 (GRCm39) E35K possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Ddx46 A G 13: 55,795,521 (GRCm39) K177E possibly damaging Het
Dmbt1 T C 7: 130,692,224 (GRCm39) F823L probably benign Het
Drc7 A T 8: 95,801,637 (GRCm39) H666L probably benign Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fhdc1 T C 3: 84,353,353 (GRCm39) E624G probably benign Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Fsip2 T A 2: 82,793,095 (GRCm39) D417E probably benign Het
Garin5b T A 7: 4,774,020 (GRCm39) M31L probably benign Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Gtf2b A G 3: 142,487,185 (GRCm39) D207G probably benign Het
Has3 C A 8: 107,600,888 (GRCm39) L117I probably damaging Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Jmjd1c T A 10: 67,061,073 (GRCm39) I1142N probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mast4 A T 13: 102,872,259 (GRCm39) C2178S possibly damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mmut A T 17: 41,267,210 (GRCm39) I595F probably benign Het
Mphosph9 C T 5: 124,421,722 (GRCm39) V740I probably benign Het
Mtrex A T 13: 113,013,046 (GRCm39) M890K probably damaging Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,625 (GRCm39) I586T probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or4a81 T C 2: 89,618,814 (GRCm39) H294R probably benign Het
Or4k42 T C 2: 111,320,323 (GRCm39) Y60C probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or5g23 T A 2: 85,438,807 (GRCm39) Y149F possibly damaging Het
Or5p54 A T 7: 107,554,244 (GRCm39) Y132F probably damaging Het
Orai2 C T 5: 136,190,454 (GRCm39) V52I probably damaging Het
Osbpl5 A G 7: 143,262,831 (GRCm39) C186R probably damaging Het
Osbpl6 A G 2: 76,414,818 (GRCm39) E403G probably damaging Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Parm1 C T 5: 91,741,980 (GRCm39) T116I possibly damaging Het
Pde4dip T A 3: 97,625,500 (GRCm39) Q1366L probably damaging Het
Phgdh T C 3: 98,235,607 (GRCm39) K108E probably benign Het
Pold1 T C 7: 44,183,223 (GRCm39) probably null Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Sdk2 T C 11: 113,721,620 (GRCm39) N1332S probably benign Het
Sema6d A G 2: 124,506,070 (GRCm39) D626G probably damaging Het
Slc18b1 A G 10: 23,686,820 (GRCm39) N212S probably benign Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Sntg2 C T 12: 30,286,687 (GRCm39) W302* probably null Het
Spata22 T A 11: 73,231,301 (GRCm39) M185K possibly damaging Het
Stk35 T A 2: 129,652,427 (GRCm39) Y309* probably null Het
Taar8c A G 10: 23,976,969 (GRCm39) V281A probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmtc4 A T 14: 123,178,820 (GRCm39) I449N probably benign Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Tmub1 G A 5: 24,652,175 (GRCm39) probably benign Het
Tshz2 A G 2: 169,728,397 (GRCm39) T529A probably damaging Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Usp25 A G 16: 76,910,682 (GRCm39) K913E probably benign Het
Vgf A G 5: 137,060,401 (GRCm39) probably benign Het
Vmn2r19 T A 6: 123,306,845 (GRCm39) F451Y probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps9d1 C A 8: 123,971,860 (GRCm39) A582S probably benign Het
Xbp1 T G 11: 5,474,841 (GRCm39) H247Q probably damaging Het
Zfp1008 A T 13: 62,755,210 (GRCm39) I36N probably benign Het
Zfp319 A T 8: 96,055,129 (GRCm39) M358K possibly damaging Het
Zfp438 A T 18: 5,213,508 (GRCm39) N483K probably damaging Het
Zfp518b T C 5: 38,828,979 (GRCm39) N1009D possibly damaging Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Zgrf1 T A 3: 127,355,646 (GRCm39) S291T probably benign 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
R1677:Cenpc1 UTSW 5 86,209,857 (GRCm39) splice site probably benign
R2044:Cenpc1 UTSW 5 86,185,614 (GRCm39) missense probably benign 0.01
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 PCR Primer
(F):5'- CTCGGTACAGTTTTAAAGCAGTAAG -3'
(R):5'- CCTTCTCATGCATTCACAGAATTCG -3'

Sequencing Primer
(F):5'- TCTGCTCTAATTACCCAGAGGCAG -3'
(R):5'- GTCGAGAATCATGCAGCTTATGTCC -3'
Posted On 2014-10-16