Mutagenetix > Incidental Mutations

Incidental Mutation 'R2901:Cep68'

261474

Institutional Source

Beutler Lab

Gene Symbol

Cep68

Ensembl Gene

ENSMUSG00000044066

Gene Name

centrosomal protein 68

Synonyms

MMRRC Submission

040489-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R2901 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20227037-20249429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20240187 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 275 (L275P)

Ref Sequence

ENSEMBL: ENSMUSP00000125113 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050611
AA Change: L275P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: L275P

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 damaging
Transcript: ENSMUST00000109596
AA Change: L275P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: L275P

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 damaging
Transcript: ENSMUST00000162811
AA Change: L275P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: L275P

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

0.1709

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	T	C	1: 134,390,924	L478P	probably damaging	Het
Abhd13	T	A	8: 9,988,231	M276K	probably damaging	Het
Angpt4	G	T	2: 151,911,339	C3F	unknown	Het
C1qtnf1	A	G	11: 118,448,104		probably null	Het
Cep192	C	T	18: 67,869,441	R2236C	possibly damaging	Het
Clvs1	A	G	4: 9,281,972	K139E	probably damaging	Het
Col25a1	A	T	3: 130,546,391	E351V	probably damaging	Het
Dnah7a	A	T	1: 53,427,872	L3611Q	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gm3336	T	C	8: 70,720,626	S96P	possibly damaging	Het
Gm9845	T	A	3: 39,358,593		noncoding transcript	Het
Klf12	G	T	14: 99,900,146	F321L	probably damaging	Het
Klhl20	G	T	1: 161,109,552	C84*	probably null	Het
Krt23	T	C	11: 99,483,971	D260G	probably damaging	Het
Lpin1	T	C	12: 16,553,998	K578E	probably benign	Het
Mrc1	A	G	2: 14,328,543	H1345R	possibly damaging	Het
Nme8	A	T	13: 19,675,664	V23E	probably benign	Het
Olfr1490	C	T	19: 13,654,945	P167L	probably damaging	Het
Olfr954	T	A	9: 39,461,938	I169N	probably damaging	Het
Prf1	A	T	10: 61,300,319	N125Y	probably damaging	Het
Ptp4a1	T	C	1: 30,943,304	N142D	possibly damaging	Het
Simc1	G	A	13: 54,541,518		probably null	Het
Snai2	T	C	16: 14,705,983	S4P	possibly damaging	Het
Ssc4d	G	A	5: 135,964,663	P113L	possibly damaging	Het
Stmn2	A	G	3: 8,541,921	I34V	probably benign	Het
Tspoap1	C	T	11: 87,777,975	P1358L	probably benign	Het
Ubr3	T	C	2: 70,016,192	S1620P	possibly damaging	Het
Vps51	G	A	19: 6,076,438	R95W	probably damaging	Het
Zufsp	C	T	10: 33,927,612	R492Q	probably damaging	Het
Zufsp	T	C	10: 33,928,063	T472A	probably benign	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
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
R4557:Cep68	UTSW	11	20239113	intron	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TAGGCACTTCTGCTGATGAGC -3'
(R):5'- TCTCCCGAGTTGACTGTACC -3'

Sequencing Primer
(F):5'- ACATTAGTGGGTGACTTTAGAGTAC -3'
(R):5'- CGAGTTGACTGTACCCCAGG -3'

Posted On

2015-01-23