Incidental Mutation 'R5222:Cenpc1'
ID 402361
Institutional Source Beutler Lab
Gene Symbol Cenpc1
Ensembl Gene ENSMUSG00000029253
Gene Name centromere protein C1
Synonyms
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 86159883-86213442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86185606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 302 (S302T)
Ref Sequence ENSEMBL: ENSMUSP00000031170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031170]
AlphaFold P49452
Predicted Effect possibly damaging
Transcript: ENSMUST00000031170
AA Change: S302T

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: S302T

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 0.0862 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* probably null 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
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
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'- TAGGCTTAGACACTCTCCTCTGG -3'
(R):5'- AGTTCTGTGGTCAGGCACAC -3'

Sequencing Primer
(F):5'- CAGGAGATCGACAATCATTTTCC -3'
(R):5'- ACACAGCAGCAGTTCCATTTTC -3'
Posted On 2016-07-22