Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Cenpo'

535716

Institutional Source

Beutler Lab

Gene Symbol

Cenpo

Ensembl Gene

ENSMUSG00000020652

Gene Name

centromere protein O

Synonyms

8430427C03Rik, 2810429O05Rik, D12Ertd482e

MMRRC Submission

045026-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4246004-4284294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4266539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 190 (Y190N)

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 damaging
Transcript: ENSMUST00000020981
AA Change: Y69N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652
AA Change: Y69N

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 damaging
Transcript: ENSMUST00000111169
AA Change: Y190N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652
AA Change: Y190N

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

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

probably damaging
Transcript: ENSMUST00000128466
AA Change: Y191N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652
AA Change: Y191N

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

probably damaging
Transcript: ENSMUST00000140975
AA Change: Y190N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652
AA Change: Y190N

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

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	possibly damaging	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
IGL02716:Cenpo	APN	12	4,265,390 (GRCm39)	missense	possibly damaging	0.90
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
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

Predicted Primers

PCR Primer
(F):5'- GTACTAGACAGCGAGTGGAC -3'
(R):5'- GCATCAGCACAGCCTTTGAG -3'

Sequencing Primer
(F):5'- CTTGTAACCCCAGCATTTAGGAGG -3'
(R):5'- CACAGCCTTTGAGGGGAAC -3'

Posted On

2018-10-18