Incidental Mutation 'IGL01598:Cep63'
ID 91754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep63
Ensembl Gene ENSMUSG00000032534
Gene Name centrosomal protein 63
Synonyms D9Mgc41, D9Mgc48e, ET2, CD20R
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # IGL01598
Quality Score
Chromosome 9
Chromosomal Location 102461787-102503733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102467657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 570 (Q570K)
Ref Sequence ENSEMBL: ENSMUSP00000091306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093791] [ENSMUST00000162655] [ENSMUST00000216281]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000093791
AA Change: Q570K

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: Q570K

low complexity region 12 25 N/A INTRINSIC
Pfam:CEP63 76 338 8.1e-112 PFAM
coiled coil region 401 469 N/A INTRINSIC
coiled coil region 492 591 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
low complexity region 705 716 N/A INTRINSIC
coiled coil region 730 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162655
SMART Domains Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534

coiled coil region 72 220 N/A INTRINSIC
coiled coil region 243 283 N/A INTRINSIC
coiled coil region 343 411 N/A INTRINSIC
coiled coil region 434 484 N/A INTRINSIC
coiled coil region 510 529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192240
Predicted Effect probably benign
Transcript: ENSMUST00000216281
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the centrosome, the main microtubule-organizing center of the cell. The encoded protein associates with another centrosomal protein, CEP152, to regulate mother-centriole-dependent centriole duplication in dividing cells. Disruption of a similar gene in human has been associated with primary microcephaly (MCPH). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,275,817 (GRCm39) noncoding transcript Het
Apc2 T A 10: 80,148,882 (GRCm39) L1283Q probably damaging Het
Apol6 G A 15: 76,934,916 (GRCm39) A62T probably damaging Het
AU018091 A T 7: 3,212,110 (GRCm39) I204N possibly damaging Het
B4galnt4 G T 7: 140,650,428 (GRCm39) R765L probably benign Het
Brca1 T C 11: 101,415,156 (GRCm39) T993A probably benign Het
Cadps C T 14: 12,522,202 (GRCm38) probably null Het
Ccdc177 A G 12: 80,805,519 (GRCm39) S252P unknown Het
Cdc73 A G 1: 143,575,017 (GRCm39) S59P probably damaging Het
Ces1c A T 8: 93,845,041 (GRCm39) I120K probably benign Het
Cpeb1 T C 7: 81,011,549 (GRCm39) M131V probably benign Het
Dync1h1 G A 12: 110,624,562 (GRCm39) V3701I probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gldc A T 19: 30,111,156 (GRCm39) V540D probably damaging Het
Iqcf6 A G 9: 106,504,707 (GRCm39) T124A probably benign Het
Itih4 A G 14: 30,609,774 (GRCm39) I35V possibly damaging Het
Kmt2c T C 5: 25,478,664 (GRCm39) *1525W probably null Het
Kmt2c A T 5: 25,559,769 (GRCm39) V963E probably damaging Het
Lmnb2 T C 10: 80,742,999 (GRCm39) S202G probably benign Het
Med23 T G 10: 24,779,696 (GRCm39) S924R probably benign Het
Or5b102 T C 19: 13,041,513 (GRCm39) V246A probably damaging Het
Pcif1 T C 2: 164,728,531 (GRCm39) F263L possibly damaging Het
Pon2 A T 6: 5,272,331 (GRCm39) L163H probably damaging Het
Scn1a C T 2: 66,132,829 (GRCm39) V165M possibly damaging Het
Sema6d C A 2: 124,507,018 (GRCm39) P961Q probably damaging Het
Snx27 A G 3: 94,469,150 (GRCm39) Y64H probably damaging Het
Srsf11 C T 3: 157,717,672 (GRCm39) probably benign Het
Taok1 A G 11: 77,462,510 (GRCm39) V193A probably damaging Het
Tut4 A G 4: 108,408,017 (GRCm39) probably benign Het
Vps13d T C 4: 144,743,471 (GRCm39) T4137A probably benign Het
Zbtb26 T C 2: 37,326,283 (GRCm39) Y251C probably damaging Het
Other mutations in Cep63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Cep63 APN 9 102,473,314 (GRCm39) splice site probably benign
IGL02707:Cep63 APN 9 102,464,180 (GRCm39) missense probably damaging 1.00
IGL03273:Cep63 APN 9 102,479,666 (GRCm39) missense probably benign 0.13
R0355:Cep63 UTSW 9 102,500,759 (GRCm39) missense probably benign
R0847:Cep63 UTSW 9 102,465,957 (GRCm39) missense probably benign 0.12
R1276:Cep63 UTSW 9 102,466,099 (GRCm39) missense possibly damaging 0.77
R1398:Cep63 UTSW 9 102,480,285 (GRCm39) splice site probably benign
R1654:Cep63 UTSW 9 102,464,112 (GRCm39) missense possibly damaging 0.87
R1730:Cep63 UTSW 9 102,496,066 (GRCm39) missense possibly damaging 0.93
R1982:Cep63 UTSW 9 102,480,079 (GRCm39) missense probably damaging 0.99
R2359:Cep63 UTSW 9 102,471,763 (GRCm39) missense possibly damaging 0.95
R2890:Cep63 UTSW 9 102,496,026 (GRCm39) missense probably damaging 0.99
R3082:Cep63 UTSW 9 102,479,696 (GRCm39) missense probably benign 0.00
R4725:Cep63 UTSW 9 102,467,755 (GRCm39) intron probably benign
R4761:Cep63 UTSW 9 102,464,240 (GRCm39) intron probably benign
R5200:Cep63 UTSW 9 102,475,387 (GRCm39) missense probably benign 0.22
R5538:Cep63 UTSW 9 102,465,992 (GRCm39) nonsense probably null
R6463:Cep63 UTSW 9 102,473,354 (GRCm39) missense probably benign
R6887:Cep63 UTSW 9 102,503,126 (GRCm39) intron probably benign
R7854:Cep63 UTSW 9 102,480,197 (GRCm39) missense probably damaging 1.00
R8206:Cep63 UTSW 9 102,498,470 (GRCm39) intron probably benign
R8465:Cep63 UTSW 9 102,490,576 (GRCm39) missense probably benign 0.31
R9015:Cep63 UTSW 9 102,496,111 (GRCm39) missense probably damaging 1.00
R9063:Cep63 UTSW 9 102,496,227 (GRCm39) missense unknown
R9327:Cep63 UTSW 9 102,467,723 (GRCm39) missense probably benign 0.05
R9463:Cep63 UTSW 9 102,475,382 (GRCm39) missense probably benign
R9542:Cep63 UTSW 9 102,484,533 (GRCm39) missense probably benign 0.17
Posted On 2013-12-09