Incidental Mutation 'IGL02707:Cep63'
ID 304411
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 # IGL02707
Quality Score
Status
Chromosome 9
Chromosomal Location 102461787-102503733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102464180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 717 (I717K)
Ref Sequence ENSEMBL: ENSMUSP00000091306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093791] [ENSMUST00000162655] [ENSMUST00000216281]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000093791
AA Change: I717K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: I717K

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000162655
AA Change: I497K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534
AA Change: I497K

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000216281
AA Change: I555K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,476 (GRCm39) H628Q probably damaging Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Cr1l T C 1: 194,806,019 (GRCm39) T155A probably benign Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Icam4 T C 9: 20,941,770 (GRCm39) Y257H possibly damaging Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kansl1l G A 1: 66,812,604 (GRCm39) L125F probably damaging Het
Kifc1 A T 17: 34,100,467 (GRCm39) C46* probably null Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T probably benign Het
Other mutations in Cep63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Cep63 APN 9 102,467,657 (GRCm39) missense possibly damaging 0.88
IGL02378:Cep63 APN 9 102,473,314 (GRCm39) splice site probably benign
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 2015-04-16