Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Cep68'

326482

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

6030463E10Rik

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R4393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20177037-20199424 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20188544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 620 (N620K)

Ref Sequence

ENSEMBL: ENSMUSP00000105225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]

AlphaFold

Q8C0D9

Predicted Effect

probably benign
Transcript: ENSMUST00000050611
AA Change: N620K

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

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: N620K

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
SPEC	605	706	1.28e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109596
AA Change: N620K

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

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: N620K

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC
SCOP:d1quua1	594	648	1e-2	SMART
Blast:SPEC	605	646	6e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161218

Predicted Effect

probably benign
Transcript: ENSMUST00000162811

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066

Domain	Start	End	E-Value	Type
low complexity region	178	190	N/A	INTRINSIC
low complexity region	311	325	N/A	INTRINSIC

Meta Mutation Damage Score

0.2036

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944 (GRCm39)		noncoding transcript	Het
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Adgrl1	T	C	8: 84,665,222 (GRCm39)	V1353A	probably benign	Het
Clcnkb	A	G	4: 141,139,547 (GRCm39)	S152P	probably benign	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Cyp26c1	G	A	19: 37,675,105 (GRCm39)	R142H	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg5	T	A	14: 24,228,057 (GRCm39)		probably null	Het
Dnai7	T	C	6: 145,140,304 (GRCm39)	T166A	possibly damaging	Het
Ebf3	C	T	7: 136,826,886 (GRCm39)	R342H	probably damaging	Het
Ece2	T	C	16: 20,451,598 (GRCm39)	V380A	probably damaging	Het
Epb41l4a	C	T	18: 34,024,473 (GRCm39)		probably null	Het
Erbb3	G	T	10: 128,408,639 (GRCm39)	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,398,674 (GRCm39)	M651K	probably benign	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Foxp2	A	C	6: 15,377,689 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,695 (GRCm39)	Y401H	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Gm6408	A	T	5: 146,419,147 (GRCm39)	D54V	probably damaging	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Hcn4	A	G	9: 58,751,583 (GRCm39)	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577 (GRCm39)		probably null	Het
Immt	T	A	6: 71,849,784 (GRCm39)	S435T	probably benign	Het
Kcnip2	A	G	19: 45,800,669 (GRCm39)	L19P	probably benign	Het
Kctd2	T	C	11: 115,320,326 (GRCm39)		probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482 (GRCm39)	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Msl2	A	G	9: 100,978,676 (GRCm39)	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myo3a	A	T	2: 22,467,866 (GRCm39)	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,584,231 (GRCm39)	E396G	probably damaging	Het
Ogdh	G	A	11: 6,266,772 (GRCm39)	G141D	probably damaging	Het
Or10q1b	T	C	19: 13,682,554 (GRCm39)	I121T	possibly damaging	Het
Or2h2c	T	C	17: 37,424,971 (GRCm39)		probably benign	Het
Or5w1b	A	T	2: 87,476,256 (GRCm39)	C70*	probably null	Het
Orc2	C	A	1: 58,506,809 (GRCm39)		probably null	Het
P4ha3	C	T	7: 99,954,814 (GRCm39)	P291S	probably benign	Het
Pign	T	C	1: 105,449,751 (GRCm39)	K925R	probably benign	Het
Plekhm1	A	G	11: 103,267,791 (GRCm39)	S727P	possibly damaging	Het
Prr36	G	T	8: 4,264,901 (GRCm39)		probably benign	Het
Prrt3	A	G	6: 113,471,907 (GRCm39)	L755P	probably benign	Het
Secisbp2	A	G	13: 51,808,502 (GRCm39)	H89R	probably damaging	Het
Sgms2	A	T	3: 131,135,466 (GRCm39)		probably null	Het
Slc35d3	T	C	10: 19,725,352 (GRCm39)		probably null	Het
Slu7	T	A	11: 43,330,096 (GRCm39)	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,768,192 (GRCm39)	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,878,450 (GRCm39)	G85V	probably damaging	Het
Tmem51	T	C	4: 141,759,242 (GRCm39)	T169A	probably benign	Het
Tmem69	C	T	4: 116,411,964 (GRCm39)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,084,259 (GRCm39)	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,765,891 (GRCm39)	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,611,219 (GRCm39)	T756A	probably benign	Het
Zfp606	C	T	7: 12,226,776 (GRCm39)	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,087,265 (GRCm39)	T365S	probably benign	Het

Other mutations in Cep68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Cep68	APN	11	20,189,510 (GRCm39)	missense	probably benign	0.14
IGL02404:Cep68	APN	11	20,190,004 (GRCm39)	missense	possibly damaging	0.89
IGL02441:Cep68	APN	11	20,189,186 (GRCm39)	missense	probably benign	0.01
IGL02554:Cep68	APN	11	20,190,096 (GRCm39)	missense	possibly damaging	0.61
IGL02732:Cep68	APN	11	20,186,109 (GRCm39)	unclassified	probably benign
PIT4366001:Cep68	UTSW	11	20,190,007 (GRCm39)	missense	probably benign	0.21
PIT4418001:Cep68	UTSW	11	20,189,731 (GRCm39)	missense	probably benign
R0399:Cep68	UTSW	11	20,180,571 (GRCm39)	missense	probably benign	0.10
R0792:Cep68	UTSW	11	20,190,652 (GRCm39)	missense	possibly damaging	0.76
R0882:Cep68	UTSW	11	20,189,393 (GRCm39)	missense	probably benign
R1163:Cep68	UTSW	11	20,190,539 (GRCm39)	missense	probably damaging	0.99
R1869:Cep68	UTSW	11	20,190,217 (GRCm39)	missense	probably damaging	1.00
R2023:Cep68	UTSW	11	20,189,888 (GRCm39)	missense	probably benign
R2901:Cep68	UTSW	11	20,190,187 (GRCm39)	missense	probably damaging	0.99
R2902:Cep68	UTSW	11	20,190,187 (GRCm39)	missense	probably damaging	0.99
R4292:Cep68	UTSW	11	20,190,079 (GRCm39)	missense	probably damaging	0.99
R4557:Cep68	UTSW	11	20,189,113 (GRCm39)	intron	probably benign
R4581:Cep68	UTSW	11	20,189,333 (GRCm39)	missense	probably benign	0.02
R4647:Cep68	UTSW	11	20,189,349 (GRCm39)	missense	probably benign	0.00
R4887:Cep68	UTSW	11	20,189,239 (GRCm39)	missense	probably benign	0.15
R5081:Cep68	UTSW	11	20,188,477 (GRCm39)	missense	probably damaging	0.98
R5658:Cep68	UTSW	11	20,191,885 (GRCm39)	critical splice donor site	probably null
R6380:Cep68	UTSW	11	20,180,498 (GRCm39)	missense	probably benign
R7444:Cep68	UTSW	11	20,189,438 (GRCm39)	missense	probably benign	0.01
R7455:Cep68	UTSW	11	20,180,571 (GRCm39)	missense	probably damaging	0.99
R7486:Cep68	UTSW	11	20,192,166 (GRCm39)	missense	probably benign	0.05
R8075:Cep68	UTSW	11	20,189,335 (GRCm39)	missense	probably benign	0.01
R8388:Cep68	UTSW	11	20,180,582 (GRCm39)	missense	probably damaging	1.00
R8407:Cep68	UTSW	11	20,190,446 (GRCm39)	missense	possibly damaging	0.62
R8501:Cep68	UTSW	11	20,189,132 (GRCm39)	missense	unknown
R8830:Cep68	UTSW	11	20,180,418 (GRCm39)	unclassified	probably benign
R8980:Cep68	UTSW	11	20,190,390 (GRCm39)	missense	probably benign
R9354:Cep68	UTSW	11	20,188,569 (GRCm39)	missense	probably damaging	1.00
R9534:Cep68	UTSW	11	20,190,686 (GRCm39)	missense	probably benign	0.00
R9597:Cep68	UTSW	11	20,188,506 (GRCm39)	missense	probably benign	0.00
R9780:Cep68	UTSW	11	20,192,142 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AACTGAGCTACAAGACTCCAGTTAC -3'
(R):5'- GGTGGAGACAAATGACCATCTG -3'

Sequencing Primer
(F):5'- GAGCTACAAGACTCCAGTTACTTGAG -3'
(R):5'- GCCTTCGGACAAGTTAAATAGC -3'

Posted On

2015-07-06