Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Cep63'

689094

Institutional Source

Beutler Lab

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 #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102461787-102503733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102496227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 18 (H18P)

Ref Sequence

ENSEMBL: ENSMUSP00000123954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093791] [ENSMUST00000159100] [ENSMUST00000161645] [ENSMUST00000162297] [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

probably benign
Transcript: ENSMUST00000159100

SMART Domains

Protein: ENSMUSP00000124836
Gene: ENSMUSG00000032534

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

Predicted Effect

unknown
Transcript: ENSMUST00000161645
AA Change: H18P

Predicted Effect

unknown
Transcript: ENSMUST00000162297
AA Change: H18P

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

probably benign
Transcript: ENSMUST00000213636

Predicted Effect

probably benign
Transcript: ENSMUST00000215253

Predicted Effect

probably benign
Transcript: ENSMUST00000216281

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	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
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
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'- TGTGCTTCATGTCCAGCTGAC -3'
(R):5'- CCATCTGTGTTTCAGCAAGTG -3'

Sequencing Primer
(F):5'- ATGTCCAGCTGACTCCTCAGAG -3'
(R):5'- TTCAGCAAGTGAGCCTGG -3'

Posted On

2021-11-19