Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Cep63'

29774

Institutional Source

Beutler Lab

Gene Symbol

Cep63

Ensembl Gene

ENSMUSG00000032534

Gene Name

centrosomal protein 63

Synonyms

D9Mgc41, D9Mgc48e, ET2, CD20R

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102461787-102503733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102500759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 38 (Q38K)

Ref Sequence

ENSEMBL: ENSMUSP00000149157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038673] [ENSMUST00000093791] [ENSMUST00000159100] [ENSMUST00000161645] [ENSMUST00000162297] [ENSMUST00000162655] [ENSMUST00000216281] [ENSMUST00000188398] [ENSMUST00000186693] [ENSMUST00000213636] [ENSMUST00000190279]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038673

SMART Domains

Protein: ENSMUSP00000039761
Gene: ENSMUSG00000035048

Domain	Start	End	E-Value	Type
Pfam:Apc13p	1	74	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093791
AA Change: Q38K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: Q38K

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000159100
AA Change: Q38K

SMART Domains

Protein: ENSMUSP00000124836
Gene: ENSMUSG00000032534
AA Change: Q38K

Domain	Start	End	E-Value	Type
low complexity region	12	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161645

Predicted Effect

probably benign
Transcript: ENSMUST00000162297

Predicted Effect

probably benign
Transcript: ENSMUST00000162655

SMART Domains

Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534

Domain	Start	End	E-Value	Type
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: ENSMUST00000190354

Predicted Effect

probably benign
Transcript: ENSMUST00000216281
AA Change: Q38K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000188398

SMART Domains

Protein: ENSMUSP00000140325
Gene: ENSMUSG00000035048

Domain	Start	End	E-Value	Type
Pfam:Apc13p	1	74	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186693

SMART Domains

Protein: ENSMUSP00000139762
Gene: ENSMUSG00000035048

Domain	Start	End	E-Value	Type
Pfam:Apc13p	1	74	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213636

Predicted Effect

probably benign
Transcript: ENSMUST00000215253

Predicted Effect

probably benign
Transcript: ENSMUST00000190279

SMART Domains

Protein: ENSMUSP00000140967
Gene: ENSMUSG00000035048

Domain	Start	End	E-Value	Type
Pfam:Apc13p	1	74	6.9e-23	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Cep63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- cccagctaaagcaaaaCTAGGAGGAAA -3'
(R):5'- AGTCATCAGCCAGCCCTGACAT -3'

Sequencing Primer
(F):5'- agagatggctcagcgattaag -3'
(R):5'- aaattatctgttgcgttcattgtc -3'

Posted On

2013-04-24