Incidental Mutation 'IGL03162:Cenpc1'
ID 411460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpc1
Ensembl Gene ENSMUSG00000029253
Gene Name centromere protein C1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03162
Quality Score
Status
Chromosome 5
Chromosomal Location 86159883-86213442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86185764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000031170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031170]
AlphaFold P49452
Predicted Effect possibly damaging
Transcript: ENSMUST00000031170
AA Change: V249A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: V249A

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Acsl3 T C 1: 78,676,887 (GRCm39) probably null Het
Adam5 T C 8: 25,271,620 (GRCm39) T596A probably benign Het
Adh6a T A 3: 138,034,880 (GRCm39) Y336* probably null Het
Ak3 A T 19: 29,000,236 (GRCm39) V225D possibly damaging Het
Aldh1a7 T A 19: 20,685,645 (GRCm39) I302F probably benign Het
Amdhd1 T C 10: 93,367,337 (GRCm39) probably null Het
Arhgef18 G A 8: 3,491,301 (GRCm39) probably null Het
Caap1 A T 4: 94,389,261 (GRCm39) probably benign Het
Cdhr4 G A 9: 107,875,210 (GRCm39) G70D probably damaging Het
Celsr3 T C 9: 108,719,757 (GRCm39) F2445S probably damaging Het
Clca3a2 C A 3: 144,512,177 (GRCm39) V80F probably damaging Het
Col6a1 T A 10: 76,553,885 (GRCm39) probably benign Het
Commd10 T A 18: 47,220,117 (GRCm39) L198Q probably damaging Het
Cyp2d40 A G 15: 82,644,243 (GRCm39) L294P unknown Het
E2f6 T A 12: 16,868,909 (GRCm39) D77E probably benign Het
Elf5 T A 2: 103,260,751 (GRCm39) H38Q possibly damaging Het
Entrep1 T G 19: 23,965,824 (GRCm39) H225P probably damaging Het
Fcrl6 A G 1: 172,425,820 (GRCm39) V227A probably damaging Het
Fhip2b G T 14: 70,824,994 (GRCm39) D447E probably damaging Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Gm3543 A G 14: 41,802,022 (GRCm39) I154T possibly damaging Het
Gpr150 T A 13: 76,204,950 (GRCm39) probably benign Het
Gstp3 A G 19: 4,109,255 (GRCm39) probably benign Het
Gzmm C T 10: 79,528,790 (GRCm39) T64I probably damaging Het
Hs3st1 T A 5: 39,771,792 (GRCm39) K284* probably null Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih2 A T 2: 10,131,055 (GRCm39) I94N probably damaging Het
Kif26b A G 1: 178,744,497 (GRCm39) N1531S probably benign Het
Kif27 T C 13: 58,459,021 (GRCm39) S937G probably benign Het
Klhl2 A G 8: 65,207,426 (GRCm39) V311A probably damaging Het
Klrb1b T A 6: 128,795,892 (GRCm39) Q109L probably null Het
Lrig2 A G 3: 104,371,613 (GRCm39) F697L probably damaging Het
Lrrc66 T C 5: 73,764,725 (GRCm39) R773G probably benign Het
Mrgpra2b C T 7: 47,113,815 (GRCm39) V306I probably benign Het
Nipbl T C 15: 8,368,463 (GRCm39) H1127R probably benign Het
Nr3c2 A T 8: 77,944,213 (GRCm39) D816V probably damaging Het
Ntmt2 T A 1: 163,530,783 (GRCm39) I219L probably damaging Het
Or10a3 T C 7: 108,480,811 (GRCm39) M1V probably null Het
Or5w19 A C 2: 87,698,484 (GRCm39) M50L probably benign Het
Pdxdc1 A G 16: 13,675,281 (GRCm39) L350P probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla7 T C 2: 24,905,301 (GRCm39) probably benign Het
Ppan T G 9: 20,802,608 (GRCm39) L283R probably damaging Het
Rbfox3 A C 11: 118,387,257 (GRCm39) S286A probably benign Het
Rbl2 A G 8: 91,812,330 (GRCm39) T273A probably benign Het
Recql4 G T 15: 76,590,296 (GRCm39) probably null Het
Slc22a26 T A 19: 7,779,466 (GRCm39) M117L probably benign Het
Sult2a2 T A 7: 13,468,822 (GRCm39) I96K probably damaging Het
Tcf15 G A 2: 151,990,626 (GRCm39) R175H probably benign Het
Uggt1 A T 1: 36,247,037 (GRCm39) V320D probably damaging Het
Vmn2r102 A G 17: 19,914,286 (GRCm39) N617S probably damaging Het
Vpreb3 A G 10: 75,785,133 (GRCm39) Y77C probably damaging Het
Zbbx A T 3: 74,978,930 (GRCm39) probably benign Het
Zfand6 A T 7: 84,283,185 (GRCm39) S57R probably benign Het
Zmym2 A G 14: 57,151,500 (GRCm39) I462V 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
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
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
Posted On 2016-08-02