Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Cenpl'

207774

Institutional Source

Beutler Lab

Gene Symbol

Cenpl

Ensembl Gene

ENSMUSG00000026708

Gene Name

centromere protein L

Synonyms

2610300B10Rik

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160898337-160914294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160913574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 328 (Y328F)

Ref Sequence

ENSEMBL: ENSMUSP00000107247 (fasta)

Gene Model

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

AlphaFold

Q3U3S3

Predicted Effect

probably benign
Transcript: ENSMUST00000028035

SMART Domains

Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708

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 damaging
Transcript: ENSMUST00000111618
AA Change: Y328F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708
AA Change: Y328F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111620
AA Change: Y328F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708
AA Change: Y328F

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: ENSMUST00000194855

Predicted Effect

probably benign
Transcript: ENSMUST00000195571

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: ENSMUST00000192150

Predicted Effect

probably benign
Transcript: ENSMUST00000192850

Meta Mutation Damage Score

0.3148

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	probably benign	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
R1995:Cenpl	UTSW	1	160,905,994 (GRCm39)	missense	probably damaging	1.00
R2986:Cenpl	UTSW	1	160,911,037 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- TGGAGCATAATTTTGATGGAAAGCAC -3'
(R):5'- AACTCCAGAGGCACCCTGAG -3'

Sequencing Primer
(F):5'- CTCCTTTTGCAGAGAACCTGAGAG -3'
(R):5'- ACCCTGAGACAAGTGCTCCATTTC -3'

Posted On

2014-06-23