Mutagenetix > Incidental Mutations

Incidental Mutation 'R4557:Cep68'

341914

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

MMRRC Submission

041784-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20227037-20249429 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 20239113 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105225 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000050611

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066

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

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066

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

unknown
Transcript: ENSMUST00000162811
AA Change: I633K

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: I633K

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,514,461		probably benign	Het
Acad11	T	C	9: 104,082,839	F219L	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Adamts17	A	T	7: 67,027,893	E518D	probably damaging	Het
Adamts3	A	G	5: 89,700,487	Y659H	probably benign	Het
Adgrb3	T	C	1: 25,084,279	R1414G	probably damaging	Het
Apba1	T	A	19: 23,917,592	I464N	probably damaging	Het
Bahcc1	A	G	11: 120,275,088	T1057A	probably damaging	Het
Bcl11a	A	G	11: 24,164,004	E449G	probably damaging	Het
Ccdc162	T	A	10: 41,587,388	I1453L	probably benign	Het
Ccdc175	T	A	12: 72,128,306	E531V	probably benign	Het
Dlgap1	C	A	17: 70,516,689	T223K	probably benign	Het
Exoc1	G	A	5: 76,561,443	V24M	probably damaging	Het
Fbxo4	A	G	15: 3,965,705	*386R	probably null	Het
Gm10100	G	A	10: 77,726,531		probably benign	Het
Gpr149	A	G	3: 62,530,870	V622A	probably damaging	Het
Gpr149	A	C	3: 62,604,497	M27R	probably benign	Het
Ighv3-6	T	C	12: 114,288,198	N101D	probably benign	Het
Igkv4-78	A	G	6: 69,059,771	S93P	possibly damaging	Het
Kmt2c	A	T	5: 25,300,315	W3332R	probably damaging	Het
Marf1	T	C	16: 14,153,977		probably benign	Het
Mcrs1	A	G	15: 99,243,147	I459T	probably benign	Het
Mdn1	G	T	4: 32,754,437	C4646F	probably damaging	Het
Med17	T	C	9: 15,271,697	K351E	possibly damaging	Het
Nalcn	T	C	14: 123,321,235		probably benign	Het
Olfr389	G	A	11: 73,776,481	T282I	possibly damaging	Het
Olfr398	A	T	11: 73,984,599	V3E	probably benign	Het
Olfr761	C	A	17: 37,952,251	A258S	probably benign	Het
Olfr816	A	G	10: 129,911,529	Y250H	probably damaging	Het
Phrf1	C	T	7: 141,258,929		probably benign	Het
Pitpnm1	A	G	19: 4,103,085	Q135R	probably benign	Het
Prdm16	T	A	4: 154,528,827	M48L	probably benign	Het
Ptpn13	A	G	5: 103,541,110	E923G	probably damaging	Het
Rp1	A	T	1: 4,344,663	S2075R	possibly damaging	Het
Sft2d2	A	G	1: 165,183,984	C114R	probably damaging	Het
Sipa1l2	T	G	8: 125,464,415	R945S	probably damaging	Het
Slc12a1	A	G	2: 125,186,641	N517S	probably damaging	Het
Slc44a2	T	G	9: 21,346,783	L443R	possibly damaging	Het
Smok4a	T	C	17: 13,526,381		noncoding transcript	Het
Snx18	A	G	13: 113,617,828	S190P	probably damaging	Het
Thap12	A	G	7: 98,715,845	N407D	probably benign	Het
Tmc5	T	C	7: 118,670,733	I902T	probably benign	Het
Ttc27	T	G	17: 74,829,549	S584A	probably benign	Het
Ttn	A	T	2: 76,949,015	Y1174N	probably damaging	Het
Zbtb44	T	G	9: 31,064,248	S391R	probably damaging	Het

Other mutations in Cep68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Cep68	APN	11	20239510	missense	probably benign	0.14
IGL02404:Cep68	APN	11	20240004	missense	possibly damaging	0.89
IGL02441:Cep68	APN	11	20239186	missense	probably benign	0.01
IGL02554:Cep68	APN	11	20240096	missense	possibly damaging	0.61
IGL02732:Cep68	APN	11	20236109	unclassified	probably benign
PIT4366001:Cep68	UTSW	11	20240007	missense	probably benign	0.21
PIT4418001:Cep68	UTSW	11	20239731	missense	probably benign
R0399:Cep68	UTSW	11	20230571	missense	probably benign	0.10
R0792:Cep68	UTSW	11	20240652	missense	possibly damaging	0.76
R0882:Cep68	UTSW	11	20239393	missense	probably benign
R1163:Cep68	UTSW	11	20240539	missense	probably damaging	0.99
R1869:Cep68	UTSW	11	20240217	missense	probably damaging	1.00
R2023:Cep68	UTSW	11	20239888	missense	probably benign
R2901:Cep68	UTSW	11	20240187	missense	probably damaging	0.99
R2902:Cep68	UTSW	11	20240187	missense	probably damaging	0.99
R4292:Cep68	UTSW	11	20240079	missense	probably damaging	0.99
R4393:Cep68	UTSW	11	20238544	missense	probably benign	0.01
R4581:Cep68	UTSW	11	20239333	missense	probably benign	0.02
R4647:Cep68	UTSW	11	20239349	missense	probably benign	0.00
R4887:Cep68	UTSW	11	20239239	missense	probably benign	0.15
R5081:Cep68	UTSW	11	20238477	missense	probably damaging	0.98
R5658:Cep68	UTSW	11	20241885	critical splice donor site	probably null
R6380:Cep68	UTSW	11	20230498	missense	probably benign
R7444:Cep68	UTSW	11	20239438	missense	probably benign	0.01
R7455:Cep68	UTSW	11	20230571	missense	probably damaging	0.99
R7486:Cep68	UTSW	11	20242166	missense	probably benign	0.05
R8075:Cep68	UTSW	11	20239335	missense	probably benign	0.01
R8388:Cep68	UTSW	11	20230582	missense	probably damaging	1.00
R8407:Cep68	UTSW	11	20240446	missense	possibly damaging	0.62
R8501:Cep68	UTSW	11	20239132	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGACCACTAAACTTTCTCTGCAG -3'
(R):5'- TCGGGGTCTCTTCAAAACCAC -3'

Sequencing Primer
(F):5'- ACTAAACTTTCTCTGCAGAAAAGC -3'
(R):5'- GGGGTCTCTTCAAAACCACTGAAAAC -3'

Posted On

2015-09-24