Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02716:Cenpo'

304777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpo

Ensembl Gene

ENSMUSG00000020652

Gene Name

centromere protein O

Synonyms

8430427C03Rik, 2810429O05Rik, D12Ertd482e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

4246004-4284294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4265390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 210 (N210S)

Ref Sequence

ENSEMBL: ENSMUSP00000119136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000128466] [ENSMUST00000140975] [ENSMUST00000152065]

AlphaFold

Q8K015

Predicted Effect

probably benign
Transcript: ENSMUST00000020981
AA Change: N89S

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652
AA Change: N89S

Domain	Start	End	E-Value	Type
Pfam:CENP-O	1	74	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020984

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	841	858	N/A	INTRINSIC
CYCc	884	1103	2.02e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111169

SMART Domains

Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652

Domain	Start	End	E-Value	Type
coiled coil region	39	74	N/A	INTRINSIC
Pfam:CENP-O	118	195	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124505

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	840	857	N/A	INTRINSIC
CYCc	883	1102	2.02e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126017

Predicted Effect

probably benign
Transcript: ENSMUST00000127756

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	78	88	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	841	858	N/A	INTRINSIC
CYCc	884	1103	2.02e-70	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128466
AA Change: N211S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652
AA Change: N211S

Domain	Start	End	E-Value	Type
coiled coil region	40	75	N/A	INTRINSIC
Pfam:CENP-O	119	196	7.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140975
AA Change: N210S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652
AA Change: N210S

Domain	Start	End	E-Value	Type
coiled coil region	39	74	N/A	INTRINSIC
Pfam:CENP-O	117	231	9.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146523

Predicted Effect

probably benign
Transcript: ENSMUST00000146261

Predicted Effect

probably benign
Transcript: ENSMUST00000152065

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	840	857	N/A	INTRINSIC
CYCc	883	1102	2.02e-70	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,218,102 (GRCm39)	S212P	probably benign	Het
Ago2	C	T	15: 72,983,576 (GRCm39)	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,053,201 (GRCm39)	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857 (GRCm39)	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,407,425 (GRCm39)	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,792,868 (GRCm39)	S420L	possibly damaging	Het
Chadl	T	C	15: 81,580,116 (GRCm39)	N40D	probably damaging	Het
Crebbp	T	C	16: 3,932,742 (GRCm39)	E586G	probably benign	Het
Cts7	T	A	13: 61,504,422 (GRCm39)	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,795,980 (GRCm39)	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,536,246 (GRCm39)	M3679K	probably damaging	Het
Dym	T	C	18: 75,419,754 (GRCm39)	Y642H	probably damaging	Het
Efr3b	T	C	12: 4,034,627 (GRCm39)	D65G	probably damaging	Het
Elmo1	T	A	13: 20,633,672 (GRCm39)	F445I	probably damaging	Het
Epdr1	C	T	13: 19,778,740 (GRCm39)	V119M	probably benign	Het
Epha4	G	T	1: 77,357,602 (GRCm39)	R799S	probably damaging	Het
Esyt3	A	T	9: 99,199,277 (GRCm39)	V778E	probably damaging	Het
F10	A	T	8: 13,098,177 (GRCm39)	K127*	probably null	Het
Fcgbp	G	A	7: 27,800,859 (GRCm39)	E1302K	probably damaging	Het
Fer1l4	A	G	2: 155,871,635 (GRCm39)	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,645,642 (GRCm39)	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,257,550 (GRCm39)	T304S	probably benign	Het
Gab1	A	T	8: 81,496,323 (GRCm39)	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,184,576 (GRCm39)		noncoding transcript	Het
Gm572	A	G	4: 148,739,327 (GRCm39)	M52V	probably benign	Het
Hmgcr	T	C	13: 96,796,520 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,231,496 (GRCm39)	T9A	probably damaging	Het
Krt87	A	C	15: 101,332,485 (GRCm39)	F243V	possibly damaging	Het
Lyset	A	G	12: 102,711,088 (GRCm39)	T104A	probably benign	Het
Mast1	G	T	8: 85,662,352 (GRCm39)	P52Q	probably damaging	Het
Mcf2l	A	T	8: 13,047,277 (GRCm39)	Q211L	probably benign	Het
Mtrex	T	G	13: 113,019,680 (GRCm39)	D810A	probably benign	Het
Mtus2	C	A	5: 148,173,120 (GRCm39)	P968T	probably benign	Het
Mylk2	T	C	2: 152,764,073 (GRCm39)	*614R	probably null	Het
Myo15b	A	T	11: 115,774,535 (GRCm39)	E2049V	probably benign	Het
Myo6	A	T	9: 80,176,976 (GRCm39)	H581L	probably damaging	Het
Numb	A	T	12: 83,847,982 (GRCm39)	S241T	possibly damaging	Het
Or1j10	A	G	2: 36,267,355 (GRCm39)	D189G	possibly damaging	Het
Or4k77	A	T	2: 111,199,126 (GRCm39)	I50F	probably benign	Het
Or4x11	G	T	2: 89,868,138 (GRCm39)	V292L	probably benign	Het
Phldb2	A	G	16: 45,621,953 (GRCm39)	S676P	probably damaging	Het
Rttn	G	A	18: 89,066,541 (GRCm39)	E1196K	possibly damaging	Het
Slc13a3	G	A	2: 165,248,635 (GRCm39)	P548S	unknown	Het
Slc2a7	A	G	4: 150,244,467 (GRCm39)		probably benign	Het
Slc37a1	T	C	17: 31,547,135 (GRCm39)	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,041,896 (GRCm39)	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,883,287 (GRCm39)		probably null	Het
Stambp	G	A	6: 83,533,372 (GRCm39)	T297I	probably damaging	Het
Sypl1	T	A	12: 33,017,668 (GRCm39)	Y129N	probably damaging	Het
Syt14	G	A	1: 192,662,843 (GRCm39)	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,688,227 (GRCm39)	D222G	probably damaging	Het
Tead2	C	A	7: 44,881,720 (GRCm39)	Y79*	probably null	Het
Uso1	T	C	5: 92,321,794 (GRCm39)	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124 (GRCm39)	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,213,678 (GRCm39)	V88D	probably benign	Het
Vps29	A	G	5: 122,500,129 (GRCm39)	T85A	probably benign	Het
Wdr90	T	A	17: 26,076,194 (GRCm39)	S500C	probably damaging	Het
Zfp958	G	A	8: 4,675,967 (GRCm39)		probably null	Het

Other mutations in Cenpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Cenpo	APN	12	4,266,685 (GRCm39)	missense	probably benign	0.02
IGL01661:Cenpo	APN	12	4,284,023 (GRCm39)	splice site	probably null
R0305:Cenpo	UTSW	12	4,266,660 (GRCm39)	missense	possibly damaging	0.48
R0811:Cenpo	UTSW	12	4,266,643 (GRCm39)	missense	probably benign	0.06
R0812:Cenpo	UTSW	12	4,266,643 (GRCm39)	missense	probably benign	0.06
R1574:Cenpo	UTSW	12	4,265,433 (GRCm39)	splice site	probably null
R1574:Cenpo	UTSW	12	4,265,433 (GRCm39)	splice site	probably null
R1916:Cenpo	UTSW	12	4,266,683 (GRCm39)	missense	probably benign	0.05
R2174:Cenpo	UTSW	12	4,267,318 (GRCm39)	missense	probably benign	0.00
R5384:Cenpo	UTSW	12	4,266,646 (GRCm39)	missense	probably damaging	1.00
R6211:Cenpo	UTSW	12	4,266,733 (GRCm39)	missense	probably benign	0.22
R6238:Cenpo	UTSW	12	4,281,968 (GRCm39)	missense	possibly damaging	0.76
R6630:Cenpo	UTSW	12	4,267,236 (GRCm39)	unclassified	probably benign
R6862:Cenpo	UTSW	12	4,266,539 (GRCm39)	missense	probably damaging	1.00
R7086:Cenpo	UTSW	12	4,265,307 (GRCm39)	missense	probably benign	0.00
R7087:Cenpo	UTSW	12	4,265,307 (GRCm39)	missense	probably benign	0.00
R7088:Cenpo	UTSW	12	4,265,307 (GRCm39)	missense	probably benign	0.00
R7351:Cenpo	UTSW	12	4,266,581 (GRCm39)	missense	probably damaging	0.99
R7790:Cenpo	UTSW	12	4,264,597 (GRCm39)	missense	probably benign	0.00
R7877:Cenpo	UTSW	12	4,264,573 (GRCm39)	missense	probably damaging	1.00
R9371:Cenpo	UTSW	12	4,266,686 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16