Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Cep63'

656776

Institutional Source

Beutler Lab

Gene Symbol

Cep63

Ensembl Gene

ENSMUSG00000032534

Gene Name

centrosomal protein 63

Synonyms

D9Mgc48e, CD20R, D9Mgc41, ET2

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102584588-102626534 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102613377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 178 (K178R)

Ref Sequence

ENSEMBL: ENSMUSP00000091306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093791] [ENSMUST00000159100] [ENSMUST00000162655] [ENSMUST00000213636] [ENSMUST00000216281]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093791
AA Change: K178R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: K178R

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

probably benign
Transcript: ENSMUST00000162655
AA Change: K120R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534
AA Change: K120R

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
AA Change: K29R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000215253
AA Change: K58R

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216281
AA Change: K178R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,316,464 (GRCm38)	L23M	possibly damaging	Het
Acot6	A	T	12: 84,106,441 (GRCm38)		probably null	Het
Adamtsl3	A	T	7: 82,598,122 (GRCm38)	N1429Y	probably benign	Het
Adk	T	C	14: 21,103,824 (GRCm38)	S32P	possibly damaging	Het
Akap13	A	T	7: 75,727,038 (GRCm38)	M2005L	probably benign	Het
Atp10a	A	T	7: 58,828,310 (GRCm38)	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,988,862 (GRCm38)	I142V	probably benign	Het
Brap	C	T	5: 121,679,295 (GRCm38)	Q322*	probably null	Het
Carmil3	A	T	14: 55,496,848 (GRCm38)	N401I	probably damaging	Het
Cdan1	A	T	2: 120,728,440 (GRCm38)	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,517,491 (GRCm38)	S531I	probably benign	Het
Cela3a	A	T	4: 137,403,874 (GRCm38)	Y184*	probably null	Het
Cfb	G	A	17: 34,857,314 (GRCm38)	Q152*	probably null	Het
Cnpy2	G	A	10: 128,326,175 (GRCm38)	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,339,523 (GRCm38)		probably null	Het
Ctc1	G	A	11: 69,026,219 (GRCm38)	G67D	probably damaging	Het
Cwc27	G	T	13: 104,804,264 (GRCm38)	P196T	probably benign	Het
Cwc27	C	A	13: 104,804,268 (GRCm38)	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,555,177 (GRCm38)	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,559,121 (GRCm38)		probably null	Het
Dedd2	G	T	7: 25,218,906 (GRCm38)	R75S	probably damaging	Het
Fat2	G	A	11: 55,256,704 (GRCm38)	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,463,187 (GRCm38)	V177I	probably damaging	Het
Fsip2	A	T	2: 82,979,940 (GRCm38)	E2201V	probably benign	Het
Gbp11	C	T	5: 105,325,062 (GRCm38)	D499N	probably benign	Het
Gfm1	A	G	3: 67,431,699 (GRCm38)	E45G	probably damaging	Het
Gm884	T	A	11: 103,616,121 (GRCm38)		probably benign	Het
H2-D1	A	G	17: 35,263,511 (GRCm38)	Y69C	probably damaging	Het
Hcar1	A	G	5: 123,879,046 (GRCm38)	F194S	probably damaging	Het
Heatr4	A	T	12: 83,977,933 (GRCm38)		probably null	Het
Kcnd2	G	A	6: 21,216,696 (GRCm38)	C133Y	probably damaging	Het
Kcnq1	A	T	7: 143,425,974 (GRCm38)	Q619L	probably benign	Het
Kctd12	T	A	14: 102,981,465 (GRCm38)	R326W	probably damaging	Het
Kel	A	G	6: 41,689,538 (GRCm38)		probably null	Het
Lipk	A	T	19: 34,046,797 (GRCm38)	I332F	probably benign	Het
Masp2	A	G	4: 148,612,059 (GRCm38)	D371G	possibly damaging	Het
Met	A	G	6: 17,571,810 (GRCm38)	E1376G	probably benign	Het
Mup5	A	T	4: 61,833,778 (GRCm38)	I78K	probably benign	Het
Mynn	A	T	3: 30,616,641 (GRCm38)	D526V	probably damaging	Het
Naip6	G	T	13: 100,296,915 (GRCm38)	T1138N	possibly damaging	Het
Neurod1	G	T	2: 79,454,352 (GRCm38)	P229Q	probably damaging	Het
Npepps	T	G	11: 97,248,259 (GRCm38)	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,462,883 (GRCm38)	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,503,388 (GRCm38)	T310A	probably damaging	Het
Olfr1062	A	T	2: 86,423,631 (GRCm38)	M15K	probably benign	Het
Olfr1079	A	G	2: 86,538,387 (GRCm38)	I176T	probably damaging	Het
Olfr1288	A	T	2: 111,479,080 (GRCm38)	T99S	probably benign	Het
Olfr25	A	T	9: 38,330,114 (GRCm38)	I176F	possibly damaging	Het
Pigf	G	A	17: 86,997,536 (GRCm38)	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,342,181 (GRCm38)	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,270,040 (GRCm38)	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,691,482 (GRCm38)	D1407N	probably benign	Het
Rhobtb3	T	C	13: 75,939,622 (GRCm38)	D82G	probably damaging	Het
Rims1	T	C	1: 22,428,480 (GRCm38)	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,665,468 (GRCm38)		probably benign	Het
Sec14l4	T	A	11: 4,043,948 (GRCm38)	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,956,612 (GRCm38)	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,150,033 (GRCm38)	I342T	probably damaging	Het
Shmt2	A	G	10: 127,520,076 (GRCm38)	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,415,666 (GRCm38)	M243V	probably benign	Het
Slfn2	T	A	11: 83,069,661 (GRCm38)	N155K	probably damaging	Het
Syne2	A	T	12: 75,854,124 (GRCm38)	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,194,477 (GRCm38)	I116L	probably benign	Het
Tcp11	A	G	17: 28,067,792 (GRCm38)	I411T	probably damaging	Het
Tctn1	C	T	5: 122,241,796 (GRCm38)	A560T	probably benign	Het
Tenm3	C	A	8: 48,229,181 (GRCm38)	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,886,075 (GRCm38)	D691G	probably benign	Het
Ube3b	C	T	5: 114,390,390 (GRCm38)	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,139,659 (GRCm38)	I216M	possibly damaging	Het
Unc5d	T	A	8: 28,666,849 (GRCm38)	R789S	probably damaging	Het
Ush2a	G	A	1: 188,415,678 (GRCm38)	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,394,541 (GRCm38)	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,984,884 (GRCm38)	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,297,436 (GRCm38)	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,452,825 (GRCm38)	I663N	probably damaging	Het
Vnn3	C	A	10: 23,865,882 (GRCm38)	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,152,448 (GRCm38)	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,657,260 (GRCm38)	E97K	possibly damaging	Het
Xdh	A	T	17: 73,899,012 (GRCm38)	C1002*	probably null	Het
Zscan4e	A	C	7: 11,307,651 (GRCm38)	V126G	probably damaging	Het

Other mutations in Cep63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Cep63	APN	9	102,590,458 (GRCm38)	missense	possibly damaging	0.88
IGL02378:Cep63	APN	9	102,596,115 (GRCm38)	splice site	probably benign
IGL02707:Cep63	APN	9	102,586,981 (GRCm38)	missense	probably damaging	1.00
IGL03273:Cep63	APN	9	102,602,467 (GRCm38)	missense	probably benign	0.13
R0355:Cep63	UTSW	9	102,623,560 (GRCm38)	missense	probably benign
R0847:Cep63	UTSW	9	102,588,758 (GRCm38)	missense	probably benign	0.12
R1276:Cep63	UTSW	9	102,588,900 (GRCm38)	missense	possibly damaging	0.77
R1398:Cep63	UTSW	9	102,603,086 (GRCm38)	splice site	probably benign
R1654:Cep63	UTSW	9	102,586,913 (GRCm38)	missense	possibly damaging	0.87
R1730:Cep63	UTSW	9	102,618,867 (GRCm38)	missense	possibly damaging	0.93
R1982:Cep63	UTSW	9	102,602,880 (GRCm38)	missense	probably damaging	0.99
R2359:Cep63	UTSW	9	102,594,564 (GRCm38)	missense	possibly damaging	0.95
R2890:Cep63	UTSW	9	102,618,827 (GRCm38)	missense	probably damaging	0.99
R3082:Cep63	UTSW	9	102,602,497 (GRCm38)	missense	probably benign	0.00
R4725:Cep63	UTSW	9	102,590,556 (GRCm38)	intron	probably benign
R4761:Cep63	UTSW	9	102,587,041 (GRCm38)	intron	probably benign
R5200:Cep63	UTSW	9	102,598,188 (GRCm38)	missense	probably benign	0.22
R5538:Cep63	UTSW	9	102,588,793 (GRCm38)	nonsense	probably null
R6463:Cep63	UTSW	9	102,596,155 (GRCm38)	missense	probably benign
R6887:Cep63	UTSW	9	102,625,927 (GRCm38)	intron	probably benign
R7854:Cep63	UTSW	9	102,602,998 (GRCm38)	missense	probably damaging	1.00
R8206:Cep63	UTSW	9	102,621,271 (GRCm38)	intron	probably benign
R9015:Cep63	UTSW	9	102,618,912 (GRCm38)	missense	probably damaging	1.00
R9063:Cep63	UTSW	9	102,619,028 (GRCm38)	missense	unknown
R9327:Cep63	UTSW	9	102,590,524 (GRCm38)	missense	probably benign	0.05
R9463:Cep63	UTSW	9	102,598,183 (GRCm38)	missense	probably benign
R9542:Cep63	UTSW	9	102,607,334 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTTGCTCCAGAAAACAGCTC -3'
(R):5'- TTTCTCTCACATACACATGCAAGC -3'

Sequencing Primer
(F):5'- TTGCTCCAGAAAACAGCTCCATTAG -3'
(R):5'- CATGTGATTGAAGATGACCTTGCCC -3'

Posted On

2021-01-18