Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02489:Cenpp'

295559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpp

Ensembl Gene

ENSMUSG00000021391

Gene Name

centromere protein P

Synonyms

1700022C02Rik, 4921518G09Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

IGL02489

Quality Score

Status

Chromosome

Chromosomal Location

49617499-49806261 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 49803594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021824] [ENSMUST00000221083] [ENSMUST00000221142] [ENSMUST00000222197] [ENSMUST00000222333] [ENSMUST00000223467] [ENSMUST00000223264]

AlphaFold

Q9CZ92

Predicted Effect

probably null
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021824

SMART Domains

Protein: ENSMUSP00000021824
Gene: ENSMUSG00000021392

Domain	Start	End	E-Value	Type
RRM	27	103	3.02e-9	SMART
low complexity region	315	327	N/A	INTRINSIC
low complexity region	454	468	N/A	INTRINSIC
low complexity region	712	724	N/A	INTRINSIC
low complexity region	804	816	N/A	INTRINSIC
low complexity region	836	849	N/A	INTRINSIC
coiled coil region	886	916	N/A	INTRINSIC
coiled coil region	955	981	N/A	INTRINSIC
low complexity region	1080	1093	N/A	INTRINSIC
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221083

Predicted Effect

probably benign
Transcript: ENSMUST00000221142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Predicted Effect

probably benign
Transcript: ENSMUST00000222197

Predicted Effect

probably benign
Transcript: ENSMUST00000222333

Predicted Effect

probably benign
Transcript: ENSMUST00000223467

Predicted Effect

probably benign
Transcript: ENSMUST00000223264

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP 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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,847 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,480,746 (GRCm39)	T430A	possibly damaging	Het
Ankrd6	T	C	4: 32,810,298 (GRCm39)	D426G	probably damaging	Het
Arhgef37	A	G	18: 61,639,540 (GRCm39)	S280P	possibly damaging	Het
Bicd1	T	C	6: 149,414,535 (GRCm39)	L416P	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col5a2	T	C	1: 45,431,971 (GRCm39)		probably null	Het
Ctsa	A	G	2: 164,680,565 (GRCm39)	Y402C	probably damaging	Het
Dnah7a	A	G	1: 53,686,481 (GRCm39)	V223A	possibly damaging	Het
Dnajb3	G	T	1: 88,133,032 (GRCm39)	N123K	probably benign	Het
Fhad1	G	T	4: 141,684,931 (GRCm39)	N469K	probably damaging	Het
Fmo3	G	T	1: 162,781,856 (GRCm39)	T499K	possibly damaging	Het
Gm10100	G	A	10: 77,562,645 (GRCm39)	C109Y	probably benign	Het
Lrrc27	G	T	7: 138,805,977 (GRCm39)	R214L	probably benign	Het
Mc5r	T	A	18: 68,472,597 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	C	5: 63,962,570 (GRCm39)	Y718S	probably damaging	Het
Or8h7	T	G	2: 86,721,339 (GRCm39)	Y60S	probably damaging	Het
Ppa1	T	A	10: 61,501,223 (GRCm39)	D163E	probably damaging	Het
Ptprk	G	T	10: 28,259,468 (GRCm39)	G303W	probably damaging	Het
Rnf182	T	C	13: 43,821,779 (GRCm39)	L110P	probably damaging	Het
Slc12a2	T	C	18: 58,045,074 (GRCm39)	F659S	probably damaging	Het
Slc5a3	T	A	16: 91,874,593 (GRCm39)	Y217N	possibly damaging	Het
Ttc41	G	T	10: 86,596,778 (GRCm39)	E1008*	probably null	Het
Unc80	T	C	1: 66,564,860 (GRCm39)	M849T	probably benign	Het
Vmn2r76	A	T	7: 85,878,071 (GRCm39)	I442N	probably benign	Het

Other mutations in Cenpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Cenpp	APN	13	49,801,132 (GRCm39)	critical splice acceptor site	probably null
IGL01323:Cenpp	APN	13	49,801,118 (GRCm39)	missense	probably damaging	1.00
IGL01397:Cenpp	APN	13	49,794,759 (GRCm39)	missense	probably damaging	1.00
IGL01553:Cenpp	APN	13	49,618,252 (GRCm39)	missense	probably damaging	0.99
IGL03024:Cenpp	APN	13	49,617,730 (GRCm39)	missense	probably benign	0.16
R0218:Cenpp	UTSW	13	49,801,108 (GRCm39)	missense	possibly damaging	0.57
R0660:Cenpp	UTSW	13	49,618,173 (GRCm39)	missense	probably benign	0.00
R1868:Cenpp	UTSW	13	49,794,759 (GRCm39)	missense	probably damaging	1.00
R4097:Cenpp	UTSW	13	49,647,265 (GRCm39)	missense	possibly damaging	0.88
R4377:Cenpp	UTSW	13	49,647,907 (GRCm39)	utr 3 prime	probably benign
R4595:Cenpp	UTSW	13	49,794,710 (GRCm39)	missense	probably benign	0.09
R5173:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5174:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5953:Cenpp	UTSW	13	49,806,161 (GRCm39)	missense	probably damaging	0.99
R7054:Cenpp	UTSW	13	49,619,233 (GRCm39)	missense	probably damaging	0.97
R8452:Cenpp	UTSW	13	49,683,887 (GRCm39)	splice site	probably null
R9602:Cenpp	UTSW	13	49,801,049 (GRCm39)	missense	probably damaging	1.00
RF023:Cenpp	UTSW	13	49,803,620 (GRCm39)	missense	probably benign	0.00
Z1088:Cenpp	UTSW	13	49,801,134 (GRCm39)	splice site	probably null

Posted On

2015-04-16