Mutagenetix > Incidental Mutation

Incidental Mutation 'R5538:Cep63'

434941

Institutional Source

Beutler Lab

Gene Symbol

Cep63

Ensembl Gene

ENSMUSG00000032534

Gene Name

centrosomal protein 63

Synonyms

D9Mgc41, D9Mgc48e, ET2, CD20R

MMRRC Submission

043096-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R5538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102461787-102503733 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 102465992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 678 (L678*)

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 null
Transcript: ENSMUST00000093791
AA Change: L678*

SMART Domains

Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: L678*

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

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: ENSMUST00000191074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192240

Predicted Effect

probably benign
Transcript: ENSMUST00000216281

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (73/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,581,808 (GRCm39)	R4745S	probably benign	Het
Ank3	A	G	10: 69,823,257 (GRCm39)	E642G	probably damaging	Het
Arhgap11a	G	T	2: 113,667,875 (GRCm39)	D375E	probably benign	Het
Arl8b	C	A	6: 108,760,297 (GRCm39)	L28M	probably damaging	Het
Bbs2	G	A	8: 94,816,391 (GRCm39)	T157M	probably damaging	Het
C2cd3	T	A	7: 100,104,700 (GRCm39)		probably null	Het
C6	T	A	15: 4,844,311 (GRCm39)	I911N	possibly damaging	Het
Cc2d2a	T	C	5: 43,852,518 (GRCm39)	I365T	possibly damaging	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Ceacam3	A	T	7: 16,892,346 (GRCm39)	D363V	probably damaging	Het
Clasrp	A	C	7: 19,318,707 (GRCm39)		probably benign	Het
Clk2	T	A	3: 89,082,962 (GRCm39)	Y412N	probably damaging	Het
Col24a1	C	T	3: 144,998,882 (GRCm39)	A5V	probably damaging	Het
Cox16	T	C	12: 81,531,703 (GRCm39)	N13D	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx32	A	T	7: 133,324,946 (GRCm39)	M437K	probably benign	Het
Dnm2	T	C	9: 21,416,923 (GRCm39)	F819L	probably benign	Het
Dpysl4	A	G	7: 138,671,906 (GRCm39)	T85A	probably benign	Het
Dspp	A	T	5: 104,323,096 (GRCm39)	K80*	probably null	Het
Dync2h1	T	C	9: 7,168,630 (GRCm39)		probably benign	Het
Ern1	A	G	11: 106,312,727 (GRCm39)	V218A	possibly damaging	Het
Fbn2	G	A	18: 58,204,973 (GRCm39)	R1157C	probably benign	Het
Fez1	T	A	9: 36,780,172 (GRCm39)	I323N	probably damaging	Het
Fmo9	T	A	1: 166,501,198 (GRCm39)	T199S	probably benign	Het
Fry	T	A	5: 150,419,313 (GRCm39)	L915Q	probably damaging	Het
Gatd1	A	G	7: 140,986,758 (GRCm39)		probably benign	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gnpda2	A	T	5: 69,735,394 (GRCm39)	H230Q	probably damaging	Het
Gramd1c	T	A	16: 43,802,455 (GRCm39)	N652I	probably damaging	Het
H2-T13	T	A	17: 36,392,178 (GRCm39)	H178L	probably benign	Het
Hells	T	A	19: 38,942,096 (GRCm39)	F462Y	probably benign	Het
Htr7	A	G	19: 35,947,235 (GRCm39)	F260L	probably benign	Het
Itsn1	C	A	16: 91,580,990 (GRCm39)	A23D	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Kctd16	T	A	18: 40,390,319 (GRCm39)	Y97*	probably null	Het
Kif20b	A	T	19: 34,930,364 (GRCm39)	K25*	probably null	Het
Klf2	T	C	8: 73,073,316 (GRCm39)	L40P	probably damaging	Het
Kmt2a	A	G	9: 44,731,639 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lonrf1	T	A	8: 36,690,178 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 40,587,486 (GRCm39)	I154K	unknown	Het
Mybpc1	T	A	10: 88,381,891 (GRCm39)	I600L	possibly damaging	Het
Npnt	T	C	3: 132,610,724 (GRCm39)	N285S	probably damaging	Het
Or4c12b	T	A	2: 89,646,964 (GRCm39)	F92Y	probably damaging	Het
Or51h5	A	G	7: 102,577,728 (GRCm39)	T298A	probably damaging	Het
Or6c69	T	A	10: 129,747,871 (GRCm39)	Y92F	probably benign	Het
Or6n1	T	C	1: 173,917,544 (GRCm39)	*313R	probably null	Het
Pcnx1	T	C	12: 81,907,183 (GRCm39)	V13A	probably damaging	Het
Phkb	G	A	8: 86,648,756 (GRCm39)	V191I	possibly damaging	Het
Pnpla6	A	G	8: 3,581,508 (GRCm39)	M594V	probably benign	Het
Potefam3e	A	C	8: 19,799,430 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,469,333 (GRCm39)	E146G	probably damaging	Het
Ror1	T	C	4: 100,298,208 (GRCm39)	M527T	probably benign	Het
Scnm1	A	G	3: 95,037,066 (GRCm39)		probably benign	Het
Skint11	A	T	4: 114,088,959 (GRCm39)	N251I	probably damaging	Het
Slc19a3	T	A	1: 83,000,282 (GRCm39)	N245I	possibly damaging	Het
Slc1a3	A	T	15: 8,675,188 (GRCm39)	D272E	probably damaging	Het
Smok2b	T	A	17: 13,454,440 (GRCm39)	V200D	possibly damaging	Het
Sspo	T	C	6: 48,429,112 (GRCm39)	Y417H	probably damaging	Het
Stk11ip	C	A	1: 75,504,979 (GRCm39)	S388R	probably damaging	Het
Svep1	T	C	4: 58,049,282 (GRCm39)		probably null	Het
Sytl2	A	G	7: 90,038,114 (GRCm39)	I525V	probably benign	Het
Tie1	T	C	4: 118,343,390 (GRCm39)	N158D	probably benign	Het
Tle2	T	C	10: 81,416,418 (GRCm39)	L180P	probably damaging	Het
Txlnb	T	C	10: 17,714,657 (GRCm39)	L363P	probably damaging	Het
Upk3b	C	G	5: 136,072,890 (GRCm39)	A258G	probably benign	Het
Usp32	A	T	11: 84,908,612 (GRCm39)	D1031E	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,041 (GRCm39)	L592F	probably benign	Het
Zfp607b	A	G	7: 27,402,294 (GRCm39)	H250R	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
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
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'- CTTGGTTGAATGTGCCTTCAC -3'
(R):5'- ATGGCCAGCACAGACATGAC -3'

Sequencing Primer
(F):5'- AGGGTACTGACTGGGACC -3'
(R):5'- GCACAGACATGACGGAATAAAGACC -3'

Posted On

2016-10-24