Mutagenetix > Incidental Mutations

Incidental Mutation 'R7961:Cenpn'

650119

Institutional Source

Beutler Lab

Gene Symbol

Cenpn

Ensembl Gene

ENSMUSG00000031756

Gene Name

centromere protein N

Synonyms

2610510J17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116921730-116941507 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116937237 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 256 (T256N)

Ref Sequence

ENSEMBL: ENSMUSP00000034205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034205] [ENSMUST00000212263] [ENSMUST00000212775]

Predicted Effect

probably benign
Transcript: ENSMUST00000034205
AA Change: T256N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: T256N

Domain	Start	End	E-Value	Type
Pfam:CENP-N	3	337	3.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212263
AA Change: T169N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000212775

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478	R288W	probably damaging	Het
C87414	T	C	5: 93,636,684	D307G	probably damaging	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,178,295	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Engase	A	G	11: 118,486,860	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,591,759	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639		probably null	Het
Neurod4	A	T	10: 130,270,487	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802		probably benign	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297	L168*	probably null	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1170	C	A	2: 88,224,689	M114I	possibly damaging	Het
Olfr1260	A	G	2: 89,977,787	Q3R	probably benign	Het
Olfr1298	G	A	2: 111,645,937	S20F	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608	G185R		Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgsm1	T	C	5: 113,282,644	T292A	probably damaging	Het
Smad3	G	A	9: 63,650,282	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Tnks2	T	A	19: 36,852,501	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456	G183D	probably benign	Het

Other mutations in Cenpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Cenpn	APN	8	116928587	splice site	probably null
IGL02084:Cenpn	APN	8	116940895	missense	probably damaging	1.00
R0791:Cenpn	UTSW	8	116940820	splice site	probably benign
R0843:Cenpn	UTSW	8	116933306	missense	probably benign	0.09
R1166:Cenpn	UTSW	8	116926207	missense	probably damaging	1.00
R1650:Cenpn	UTSW	8	116934759	missense	probably damaging	1.00
R2132:Cenpn	UTSW	8	116934797	critical splice donor site	probably null
R4512:Cenpn	UTSW	8	116933396	missense	probably damaging	1.00
R4513:Cenpn	UTSW	8	116933396	missense	probably damaging	1.00
R4514:Cenpn	UTSW	8	116933396	missense	probably damaging	1.00
R4865:Cenpn	UTSW	8	116934773	missense	probably damaging	1.00
R5969:Cenpn	UTSW	8	116940537	missense	probably damaging	1.00
R6518:Cenpn	UTSW	8	116937165	missense	possibly damaging	0.88
R6795:Cenpn	UTSW	8	116926148	missense	probably benign	0.02
R7143:Cenpn	UTSW	8	116937227	missense	probably benign	0.00
R7556:Cenpn	UTSW	8	116937269	missense	probably damaging	1.00
R8009:Cenpn	UTSW	8	116937237	missense	probably benign	0.00
R8172:Cenpn	UTSW	8	116931594	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTCCCTATGTCAGCCTGTG -3'
(R):5'- CATGATGTCTCCTTTGCTAACAAGAG -3'

Sequencing Primer
(F):5'- AAGGCCCTGGACACATCTGAG -3'
(R):5'- TCTCCTTTGCTAACAAGAGAATTAAG -3'

Posted On

2020-09-15