Incidental Mutation 'IGL02707:Cep63'
ID304411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep63
Ensembl Gene ENSMUSG00000032534
Gene Namecentrosomal protein 63
SynonymsD9Mgc48e, CD20R, D9Mgc41, ET2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.702) question?
Stock #IGL02707
Quality Score
Status
Chromosome9
Chromosomal Location102584588-102626534 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102586981 bp
ZygosityHeterozygous
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]
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: 57,258,645 T149A probably benign Het
4932414N04Rik A C 2: 68,731,130 Q267P possibly damaging Het
Actr5 T C 2: 158,636,697 V489A probably benign Het
Adam26b T C 8: 43,519,858 probably benign Het
Aff4 A G 11: 53,399,740 N509S probably benign Het
Arhgap22 C T 14: 33,363,272 probably benign Het
Arhgap9 C A 10: 127,329,607 H628Q probably damaging Het
Asap1 A T 15: 64,129,274 I486N probably damaging Het
Asb15 A T 6: 24,558,788 probably benign Het
Avil A G 10: 127,006,562 D70G probably damaging Het
Cct6b T C 11: 82,754,954 probably benign Het
Chd4 G T 6: 125,108,767 A875S probably damaging Het
Col4a4 A T 1: 82,493,516 M706K unknown Het
Cr1l T C 1: 195,123,711 T155A probably benign Het
Ctnna3 A G 10: 63,504,065 N10S probably benign Het
Cubn A G 2: 13,446,032 V854A probably damaging Het
Dgkh T C 14: 78,585,651 T845A possibly damaging Het
F10 G A 8: 13,048,252 A152T probably damaging Het
Gabrg3 C A 7: 56,982,691 E170* probably null Het
Heatr5a A G 12: 51,921,366 V829A probably benign Het
Htt T A 5: 34,829,881 probably null Het
Icam4 T C 9: 21,030,474 Y257H possibly damaging Het
Jph1 A G 1: 17,004,451 S448P probably benign Het
Kansl1l G A 1: 66,773,445 L125F probably damaging Het
Kifc1 A T 17: 33,881,493 C46* probably null Het
Lce3b A G 3: 92,933,886 D96G unknown Het
Mab21l1 A T 3: 55,783,084 I31F possibly damaging Het
Mctp2 A G 7: 72,259,341 Y75H possibly damaging Het
Mesp2 A G 7: 79,811,526 I200V probably benign Het
Msr1 T C 8: 39,632,829 probably benign Het
Mtfr2 C T 10: 20,348,338 T6I probably benign Het
Myo5b T C 18: 74,695,367 probably benign Het
Myoc T A 1: 162,639,460 I66N probably benign Het
Olfr1242 A T 2: 89,493,827 Y162N probably damaging Het
Olfr1355 T C 10: 78,879,925 L251S probably damaging Het
Olfr149 T C 9: 39,702,641 I43V probably damaging Het
Olfr639 A C 7: 104,012,402 L100W probably damaging Het
Olfr659 T C 7: 104,670,929 C76R probably damaging Het
Olfr667 A G 7: 104,916,652 C215R probably damaging Het
Per2 T C 1: 91,450,728 D33G possibly damaging Het
Pknox1 A G 17: 31,602,819 I295V possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rhot2 A G 17: 25,844,296 S19P probably damaging Het
Rps6kb1 C A 11: 86,535,410 probably null Het
Serpinb1b C T 13: 33,091,665 T194I probably benign Het
Smarcad1 T A 6: 65,052,806 probably benign Het
Stxbp4 A G 11: 90,537,933 S449P probably benign Het
Thrb A C 14: 18,026,721 I275L probably benign Het
Tjp1 T A 7: 65,329,683 K365* probably null Het
Tjp1 T A 7: 65,329,682 K365I possibly damaging Het
Tm4sf4 C A 3: 57,426,518 C75* probably null Het
Tmem131 T C 1: 36,825,479 T558A probably benign Het
Txndc16 T C 14: 45,162,273 T408A probably benign Het
Ube2j1 T C 4: 33,038,206 L38P possibly damaging Het
Urb2 T C 8: 124,030,686 I1044T probably benign Het
Other mutations in Cep63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Cep63 APN 9 102590458 missense possibly damaging 0.88
IGL02378:Cep63 APN 9 102596115 splice site probably benign
IGL03273:Cep63 APN 9 102602467 missense probably benign 0.13
R0355:Cep63 UTSW 9 102623560 missense probably benign
R0847:Cep63 UTSW 9 102588758 missense probably benign 0.12
R1276:Cep63 UTSW 9 102588900 missense possibly damaging 0.77
R1398:Cep63 UTSW 9 102603086 splice site probably benign
R1654:Cep63 UTSW 9 102586913 missense possibly damaging 0.87
R1730:Cep63 UTSW 9 102618867 missense possibly damaging 0.93
R1982:Cep63 UTSW 9 102602880 missense probably damaging 0.99
R2359:Cep63 UTSW 9 102594564 missense possibly damaging 0.95
R2890:Cep63 UTSW 9 102618827 missense probably damaging 0.99
R3082:Cep63 UTSW 9 102602497 missense probably benign 0.00
R4725:Cep63 UTSW 9 102590556 intron probably benign
R4761:Cep63 UTSW 9 102587041 intron probably benign
R5200:Cep63 UTSW 9 102598188 missense probably benign 0.22
R5538:Cep63 UTSW 9 102588793 nonsense probably null
R6463:Cep63 UTSW 9 102596155 missense probably benign
R6887:Cep63 UTSW 9 102625927 intron probably benign
R7854:Cep63 UTSW 9 102602998 missense probably damaging 1.00
R7937:Cep63 UTSW 9 102602998 missense probably damaging 1.00
Posted On2015-04-16