Mutagenetix > Incidental Mutation

Incidental Mutation 'R2986:Cenpl'

477436

Institutional Source

Beutler Lab

Gene Symbol

Cenpl

Ensembl Gene

ENSMUSG00000026708

Gene Name

centromere protein L

Synonyms

2610300B10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2986 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160898337-160914294 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 160911037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028035] [ENSMUST00000111611] [ENSMUST00000111618] [ENSMUST00000111620] [ENSMUST00000117467] [ENSMUST00000143486] [ENSMUST00000192150] [ENSMUST00000194855] [ENSMUST00000195584] [ENSMUST00000195571] [ENSMUST00000192850]

AlphaFold

Q3U3S3

Predicted Effect

unknown
Transcript: ENSMUST00000028035
AA Change: S328L

SMART Domains

Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708
AA Change: S328L

Domain	Start	End	E-Value	Type
Pfam:CENP-L	177	327	3.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111611

SMART Domains

Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705

Domain	Start	End	E-Value	Type
BTB	63	160	2.73e-31	SMART
BACK	165	267	1.98e-41	SMART
Kelch	314	360	8.45e-16	SMART
Kelch	361	408	1.35e-14	SMART
Kelch	409	455	5.12e-15	SMART
Kelch	456	502	1.22e-12	SMART
Kelch	503	549	1.35e-14	SMART
Kelch	550	596	1.59e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111618

SMART Domains

Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708

Domain	Start	End	E-Value	Type
Pfam:CENP-L	177	327	5.4e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111620

SMART Domains

Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708

Domain	Start	End	E-Value	Type
Pfam:CENP-L	178	325	1.2e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117467

SMART Domains

Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705

Domain	Start	End	E-Value	Type
BTB	63	160	2.73e-31	SMART
BACK	165	267	1.98e-41	SMART
Kelch	314	360	8.45e-16	SMART
Kelch	361	408	1.35e-14	SMART
Kelch	409	455	5.12e-15	SMART
Kelch	456	502	1.22e-12	SMART
Kelch	503	549	1.35e-14	SMART
Kelch	550	596	1.59e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140905

Predicted Effect

probably benign
Transcript: ENSMUST00000143486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155808

Predicted Effect

probably benign
Transcript: ENSMUST00000192150

Predicted Effect

probably benign
Transcript: ENSMUST00000194855

Predicted Effect

probably benign
Transcript: ENSMUST00000195584

SMART Domains

Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705

Domain	Start	End	E-Value	Type
Kelch	1	40	1.43e-4	SMART
Kelch	41	87	1.59e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195571

Predicted Effect

probably benign
Transcript: ENSMUST00000192850

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	T	A	17: 47,777,697 (GRCm39)	C474*	probably null	Het
Arhgap18	A	G	10: 26,730,903 (GRCm39)	T122A	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Bbs4	A	G	9: 59,248,478 (GRCm39)	L75P	probably damaging	Het
Bltp3b	T	A	10: 89,641,931 (GRCm39)	V1034E	probably benign	Het
Cnnm4	G	A	1: 36,511,453 (GRCm39)	R227H	possibly damaging	Het
Dipk2a	C	A	9: 94,402,570 (GRCm39)	C364F	probably damaging	Het
Eif4g2	T	C	7: 110,677,690 (GRCm39)	E141G	probably damaging	Het
Fat3	A	G	9: 15,903,424 (GRCm39)	C3024R	probably damaging	Het
Gss	T	C	2: 155,429,363 (GRCm39)	D43G	probably benign	Het
Hmcn2	A	T	2: 31,251,010 (GRCm39)	D824V	probably damaging	Het
Slc15a1	C	T	14: 121,727,221 (GRCm39)	D116N	probably benign	Het
Slc34a1	A	G	13: 55,551,142 (GRCm39)	D190G	probably benign	Het
Ttll11	G	A	2: 35,707,750 (GRCm39)	S519L	probably benign	Het
Wdr49	T	C	3: 75,289,347 (GRCm39)	M184V	probably benign	Het
Zfp384	T	A	6: 125,001,859 (GRCm39)	V113E	possibly damaging	Het

Other mutations in Cenpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Cenpl	APN	1	160,910,857 (GRCm39)	missense	possibly damaging	0.94
IGL02479:Cenpl	APN	1	160,910,637 (GRCm39)	missense	probably benign	0.00
IGL02884:Cenpl	APN	1	160,913,619 (GRCm39)	missense	probably benign	0.37
R0193:Cenpl	UTSW	1	160,913,558 (GRCm39)	missense	probably damaging	0.99
R1847:Cenpl	UTSW	1	160,913,574 (GRCm39)	missense	probably damaging	0.99
R1995:Cenpl	UTSW	1	160,905,994 (GRCm39)	missense	probably damaging	1.00
R3706:Cenpl	UTSW	1	160,905,985 (GRCm39)	missense	probably damaging	1.00
R4739:Cenpl	UTSW	1	160,910,837 (GRCm39)	missense	probably damaging	1.00
R5193:Cenpl	UTSW	1	160,911,037 (GRCm39)	nonsense	probably null
R6321:Cenpl	UTSW	1	160,902,465 (GRCm39)	missense	probably benign	0.00
R7145:Cenpl	UTSW	1	160,910,482 (GRCm39)	missense	possibly damaging	0.93
R7382:Cenpl	UTSW	1	160,906,031 (GRCm39)	missense	probably benign
R8795:Cenpl	UTSW	1	160,910,584 (GRCm39)	missense	probably benign	0.05

Predicted Primers

Posted On

2017-05-15