Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Cenpl'

225653

Institutional Source

Beutler Lab

Gene Symbol

Cenpl

Ensembl Gene

ENSMUSG00000026708

Gene Name

centromere protein L

Synonyms

2610300B10Rik

MMRRC Submission

040005-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

160898337-160914294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 160905994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 123 (S123P)

Ref Sequence

ENSEMBL: ENSMUSP00000142254 (fasta)

Gene Model

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

AlphaFold

Q3U3S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028035
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708
AA Change: S123P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111618
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708
AA Change: S123P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111620
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708
AA Change: S123P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155808

Predicted Effect

probably benign
Transcript: ENSMUST00000192150

Predicted Effect

probably damaging
Transcript: ENSMUST00000192850
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000195571
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000194855
AA Change: S123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Btbd9	A	G	17: 30,493,904 (GRCm39)	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,569,026 (GRCm39)	N899K	possibly damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112 (GRCm39)	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,557,790 (GRCm39)	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,656,143 (GRCm39)	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,276,695 (GRCm39)	E495D	probably benign	Het
Dmp1	T	G	5: 104,357,779 (GRCm39)	S40A	possibly damaging	Het
Dpysl4	A	G	7: 138,676,686 (GRCm39)	I379V	probably benign	Het
Eral1	C	T	11: 77,965,315 (GRCm39)	G367S	probably benign	Het
Fah	C	T	7: 84,251,389 (GRCm39)	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,192,293 (GRCm39)		probably null	Het
Fbxo40	T	C	16: 36,790,231 (GRCm39)	D293G	probably damaging	Het
Gemin6	A	C	17: 80,535,414 (GRCm39)	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,318,603 (GRCm39)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gucy1b1	A	G	3: 81,942,160 (GRCm39)	I533T	probably damaging	Het
H2-M9	A	T	17: 36,952,678 (GRCm39)	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,692,909 (GRCm39)	D868Y	probably damaging	Het
Itprid1	T	C	6: 55,945,694 (GRCm39)	I805T	probably benign	Het
Jarid2	T	C	13: 45,027,917 (GRCm39)	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,779,990 (GRCm39)	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,051,511 (GRCm39)	G35S	probably benign	Het
Kirrel1	G	T	3: 87,003,093 (GRCm39)	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,855,220 (GRCm39)		probably null	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Neb	C	T	2: 52,188,744 (GRCm39)	V837M	probably damaging	Het
Nkain2	A	G	10: 32,278,347 (GRCm39)	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,848,623 (GRCm39)	R175G	probably benign	Het
Or10ag57	T	G	2: 87,218,175 (GRCm39)	I42R	probably damaging	Het
Or5ac23	A	G	16: 59,149,654 (GRCm39)	S73P	probably damaging	Het
Or5d35	T	A	2: 87,856,016 (GRCm39)	S317T	probably benign	Het
Or8g52	T	C	9: 39,630,709 (GRCm39)	F62S	probably damaging	Het
Pcnt	G	A	10: 76,228,633 (GRCm39)	Q1511*	probably null	Het
Piezo2	G	T	18: 63,211,852 (GRCm39)	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 115,953,241 (GRCm39)	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,546,364 (GRCm39)	S905T	probably benign	Het
Pikfyve	T	A	1: 65,285,867 (GRCm39)	D1035E	probably damaging	Het
Pkn3	G	C	2: 29,979,989 (GRCm39)	G744A	probably damaging	Het
Pms1	A	G	1: 53,234,174 (GRCm39)	S781P	probably benign	Het
Pogz	C	T	3: 94,785,255 (GRCm39)	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,376,405 (GRCm39)	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026 (GRCm39)	R630*	probably null	Het
Scd4	T	A	19: 44,322,617 (GRCm39)	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,799,159 (GRCm39)	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,374,618 (GRCm39)	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Speer2	A	G	16: 69,654,965 (GRCm39)	S167P	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tbcel	C	A	9: 42,362,957 (GRCm39)	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,414,468 (GRCm39)	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,824,304 (GRCm39)	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,667,510 (GRCm39)	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,565,112 (GRCm39)	I255F	probably damaging	Het
Zp2	T	A	7: 119,734,388 (GRCm39)	I554F	probably 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
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'- AGGTTGCATTTCTCCTCCACA -3'
(R):5'- TGTGTGTTTTCTAAAATCAACACCA -3'

Sequencing Primer
(F):5'- GGTTGCATTTCTCCTCCACAAACAG -3'
(R):5'- TTCTCCAAATTGCACAGGGG -3'

Posted On

2014-08-25