Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Cep63'

160241

Institutional Source

Beutler Lab

Gene Symbol

Cep63

Ensembl Gene

ENSMUSG00000032534

Gene Name

centrosomal protein 63

Synonyms

D9Mgc41, D9Mgc48e, ET2, CD20R

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102461787-102503733 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 102480285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093791] [ENSMUST00000162655] [ENSMUST00000213636] [ENSMUST00000216281]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093791

SMART Domains

Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534

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

noncoding transcript
Transcript: ENSMUST00000160512

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

probably benign
Transcript: ENSMUST00000213636

Predicted Effect

probably benign
Transcript: ENSMUST00000215253

Predicted Effect

probably benign
Transcript: ENSMUST00000216281

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	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
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
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'- TACAGCTATCAGGAGCTGAGCCAC -3'
(R):5'- AGGTTAGACACTGTACTCCACGGG -3'

Sequencing Primer
(F):5'- AGTCATATTGGTTCCCATCAGG -3'
(R):5'- TGTACTCCACGGGTCCTGAG -3'

Posted On

2014-03-14