Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:Cenpe'

628720

Institutional Source

Beutler Lab

Gene Symbol

Cenpe

Ensembl Gene

ENSMUSG00000045328

Gene Name

centromere protein E

Synonyms

312kDa, Kif10, N-7 kinesin, CENP-E

MMRRC Submission

045797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134918324-134979301 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 134953096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062893] [ENSMUST00000062893] [ENSMUST00000197369]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000062893

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328

Domain	Start	End	E-Value	Type
KISc	4	337	2.4e-172	SMART
coiled coil region	493	612	N/A	INTRINSIC
coiled coil region	637	752	N/A	INTRINSIC
internal_repeat_1	768	801	3.5e-5	PROSPERO
coiled coil region	821	991	N/A	INTRINSIC
low complexity region	1119	1143	N/A	INTRINSIC
internal_repeat_2	1225	1238	6.26e-5	PROSPERO
low complexity region	1446	1467	N/A	INTRINSIC
low complexity region	1480	1498	N/A	INTRINSIC
internal_repeat_2	1614	1627	6.26e-5	PROSPERO
internal_repeat_1	2018	2051	3.5e-5	PROSPERO
coiled coil region	2226	2247	N/A	INTRINSIC
coiled coil region	2316	2363	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000062893

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328

Domain	Start	End	E-Value	Type
KISc	4	337	2.4e-172	SMART
coiled coil region	493	612	N/A	INTRINSIC
coiled coil region	637	752	N/A	INTRINSIC
internal_repeat_1	768	801	3.5e-5	PROSPERO
coiled coil region	821	991	N/A	INTRINSIC
low complexity region	1119	1143	N/A	INTRINSIC
internal_repeat_2	1225	1238	6.26e-5	PROSPERO
low complexity region	1446	1467	N/A	INTRINSIC
low complexity region	1480	1498	N/A	INTRINSIC
internal_repeat_2	1614	1627	6.26e-5	PROSPERO
internal_repeat_1	2018	2051	3.5e-5	PROSPERO
coiled coil region	2226	2247	N/A	INTRINSIC
coiled coil region	2316	2363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197369

SMART Domains

Protein: ENSMUSP00000143435
Gene: ENSMUSG00000045328

Domain	Start	End	E-Value	Type
coiled coil region	2	49	N/A	INTRINSIC
coiled coil region	85	172	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display early embryonic lethality. Mutant embryos grown in culture exhibit inner cell mass growth defects and mitotic chromosome misalignment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,551 (GRCm39)	P118S	probably damaging	Het
Adgrl1	T	A	8: 84,656,343 (GRCm39)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,902,914 (GRCm39)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,194,332 (GRCm39)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,506,752 (GRCm39)	R445H	probably benign	Het
Capn2	C	A	1: 182,307,288 (GRCm39)	E517*	probably null	Het
Celsr1	A	T	15: 85,863,303 (GRCm39)	V1243E	possibly damaging	Het
Cep135	A	G	5: 76,778,817 (GRCm39)	E748G	probably damaging	Het
Cfap119	C	A	7: 127,187,159 (GRCm39)	V35L	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col6a1	C	A	10: 76,545,743 (GRCm39)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Dot1l	C	T	10: 80,619,378 (GRCm39)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,695,594 (GRCm39)	T555A	probably benign	Het
Foxn3	T	C	12: 99,162,587 (GRCm39)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,103,001 (GRCm39)	F320S	probably damaging	Het
Grn	A	G	11: 102,326,560 (GRCm39)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,838,963 (GRCm39)	M3K	possibly damaging	Het
Il17rd	A	G	14: 26,822,293 (GRCm39)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,187,500 (GRCm39)	D288G	possibly damaging	Het
Klk1b11	G	A	7: 43,426,421 (GRCm39)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,719,359 (GRCm39)	V3914A	unknown	Het
Map2k2	T	C	10: 80,956,877 (GRCm39)	V307A	probably benign	Het
Mst1r	G	T	9: 107,784,319 (GRCm39)		probably benign	Het
Nr3c2	A	G	8: 77,937,275 (GRCm39)	E834G	probably damaging	Het
Oga	A	T	19: 45,764,501 (GRCm39)	L213H	probably damaging	Het
Ogfod3	T	G	11: 121,074,362 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,423 (GRCm39)	Y216F	probably damaging	Het
Or8d2	T	C	9: 38,759,614 (GRCm39)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,364,693 (GRCm39)		probably null	Het
Pou2f1	A	G	1: 165,703,444 (GRCm39)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,155,701 (GRCm39)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,291,108 (GRCm39)		probably null	Het
Rbbp4	T	C	4: 129,228,356 (GRCm39)	D33G	probably damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,557,067 (GRCm39)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,404,454 (GRCm39)		probably null	Het
Sdc1	A	G	12: 8,841,370 (GRCm39)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,357,593 (GRCm39)	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,587 (GRCm39)		probably null	Het
Snx7	A	G	3: 117,632,488 (GRCm39)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,934,438 (GRCm39)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,651,581 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,197,756 (GRCm39)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,709,263 (GRCm39)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,179,088 (GRCm39)	V499E	probably damaging	Het
Tshr	G	A	12: 91,500,743 (GRCm39)	W258*	probably null	Het
Usp32	G	T	11: 84,878,107 (GRCm39)	D1543E	probably damaging	Het
Usp39	A	G	6: 72,315,521 (GRCm39)		probably benign	Het
Vac14	T	C	8: 111,361,020 (GRCm39)	S197P	probably damaging	Het
Vars2	A	G	17: 35,971,835 (GRCm39)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm39)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,157,847 (GRCm39)	Q783R	possibly damaging	Het

Other mutations in Cenpe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Cenpe	APN	3	134,937,216 (GRCm39)	critical splice donor site	probably null
IGL00799:Cenpe	APN	3	134,934,678 (GRCm39)	critical splice donor site	probably null
IGL00815:Cenpe	APN	3	134,965,112 (GRCm39)	missense	probably benign
IGL01446:Cenpe	APN	3	134,943,300 (GRCm39)	missense	probably benign	0.01
IGL01469:Cenpe	APN	3	134,934,567 (GRCm39)	missense	probably damaging	1.00
IGL01843:Cenpe	APN	3	134,924,268 (GRCm39)	missense	possibly damaging	0.88
IGL02254:Cenpe	APN	3	134,961,238 (GRCm39)	missense	probably benign
IGL02337:Cenpe	APN	3	134,926,037 (GRCm39)	splice site	probably benign
IGL02382:Cenpe	APN	3	134,953,147 (GRCm39)	missense	probably benign
IGL02458:Cenpe	APN	3	134,935,869 (GRCm39)	nonsense	probably null
IGL02934:Cenpe	APN	3	134,970,112 (GRCm39)	missense	probably damaging	1.00
IGL03335:Cenpe	APN	3	134,949,386 (GRCm39)	missense	probably benign
R0086:Cenpe	UTSW	3	134,970,185 (GRCm39)	splice site	probably benign
R0173:Cenpe	UTSW	3	134,965,744 (GRCm39)	missense	probably benign	0.00
R0394:Cenpe	UTSW	3	134,922,186 (GRCm39)	splice site	probably benign
R0411:Cenpe	UTSW	3	134,928,016 (GRCm39)	missense	probably damaging	1.00
R0624:Cenpe	UTSW	3	134,952,347 (GRCm39)	missense	probably benign	0.00
R0634:Cenpe	UTSW	3	134,952,588 (GRCm39)	missense	probably damaging	1.00
R0648:Cenpe	UTSW	3	134,935,843 (GRCm39)	missense	probably damaging	1.00
R0691:Cenpe	UTSW	3	134,923,066 (GRCm39)	missense	probably damaging	1.00
R1184:Cenpe	UTSW	3	134,970,183 (GRCm39)	critical splice donor site	probably null
R1530:Cenpe	UTSW	3	134,952,663 (GRCm39)	missense	possibly damaging	0.92
R1559:Cenpe	UTSW	3	134,976,661 (GRCm39)	missense	probably benign	0.07
R1562:Cenpe	UTSW	3	134,944,155 (GRCm39)	missense	possibly damaging	0.53
R1568:Cenpe	UTSW	3	134,945,519 (GRCm39)	missense	probably benign	0.01
R1712:Cenpe	UTSW	3	134,971,694 (GRCm39)	missense	probably damaging	0.99
R1828:Cenpe	UTSW	3	134,952,257 (GRCm39)	missense	probably damaging	0.99
R1846:Cenpe	UTSW	3	134,945,606 (GRCm39)	missense	probably damaging	1.00
R1861:Cenpe	UTSW	3	134,974,740 (GRCm39)	missense	probably damaging	1.00
R1938:Cenpe	UTSW	3	134,953,240 (GRCm39)	missense	probably damaging	0.98
R1961:Cenpe	UTSW	3	134,948,254 (GRCm39)	missense	probably damaging	1.00
R2062:Cenpe	UTSW	3	134,928,082 (GRCm39)	splice site	probably benign
R2118:Cenpe	UTSW	3	134,952,645 (GRCm39)	missense	possibly damaging	0.94
R2127:Cenpe	UTSW	3	134,945,541 (GRCm39)	missense	probably benign	0.08
R2156:Cenpe	UTSW	3	134,953,235 (GRCm39)	missense	probably benign	0.34
R2265:Cenpe	UTSW	3	134,967,397 (GRCm39)	missense	probably benign	0.02
R2268:Cenpe	UTSW	3	134,967,397 (GRCm39)	missense	probably benign	0.02
R2392:Cenpe	UTSW	3	134,953,874 (GRCm39)	missense	probably damaging	1.00
R2508:Cenpe	UTSW	3	134,946,834 (GRCm39)	missense	possibly damaging	0.92
R3084:Cenpe	UTSW	3	134,946,782 (GRCm39)	missense	probably damaging	1.00
R3779:Cenpe	UTSW	3	134,962,337 (GRCm39)	missense	possibly damaging	0.87
R3833:Cenpe	UTSW	3	134,928,083 (GRCm39)	splice site	probably benign
R3974:Cenpe	UTSW	3	134,940,986 (GRCm39)	splice site	probably null
R3975:Cenpe	UTSW	3	134,944,233 (GRCm39)	critical splice donor site	probably null
R3975:Cenpe	UTSW	3	134,940,986 (GRCm39)	splice site	probably null
R4151:Cenpe	UTSW	3	134,920,914 (GRCm39)	missense	probably benign	0.36
R4166:Cenpe	UTSW	3	134,949,479 (GRCm39)	missense	probably damaging	1.00
R4581:Cenpe	UTSW	3	134,952,761 (GRCm39)	missense	probably benign	0.30
R4622:Cenpe	UTSW	3	134,949,469 (GRCm39)	missense	probably benign	0.22
R4692:Cenpe	UTSW	3	134,922,140 (GRCm39)	missense	probably benign	0.29
R4769:Cenpe	UTSW	3	134,953,912 (GRCm39)	missense	probably benign
R4976:Cenpe	UTSW	3	134,940,637 (GRCm39)	missense	probably damaging	1.00
R4983:Cenpe	UTSW	3	134,940,689 (GRCm39)	missense	probably damaging	1.00
R4990:Cenpe	UTSW	3	134,962,401 (GRCm39)	missense	probably damaging	1.00
R5002:Cenpe	UTSW	3	134,952,842 (GRCm39)	missense	probably benign
R5057:Cenpe	UTSW	3	134,926,074 (GRCm39)	missense	probably benign	0.14
R5063:Cenpe	UTSW	3	134,976,715 (GRCm39)	missense	probably damaging	0.99
R5181:Cenpe	UTSW	3	134,948,064 (GRCm39)	missense	probably damaging	0.99
R5281:Cenpe	UTSW	3	134,935,911 (GRCm39)	missense	possibly damaging	0.89
R5389:Cenpe	UTSW	3	134,965,149 (GRCm39)	critical splice donor site	probably null
R5517:Cenpe	UTSW	3	134,929,026 (GRCm39)	missense	probably damaging	1.00
R5521:Cenpe	UTSW	3	134,974,826 (GRCm39)	missense	probably damaging	1.00
R5607:Cenpe	UTSW	3	134,940,837 (GRCm39)	nonsense	probably null
R5608:Cenpe	UTSW	3	134,940,837 (GRCm39)	nonsense	probably null
R5627:Cenpe	UTSW	3	134,941,234 (GRCm39)	missense	possibly damaging	0.51
R5766:Cenpe	UTSW	3	134,954,174 (GRCm39)	missense	probably damaging	0.96
R5783:Cenpe	UTSW	3	134,967,341 (GRCm39)	missense	probably benign	0.00
R5933:Cenpe	UTSW	3	134,967,389 (GRCm39)	missense	probably benign	0.03
R6073:Cenpe	UTSW	3	134,965,834 (GRCm39)	nonsense	probably null
R6163:Cenpe	UTSW	3	134,974,764 (GRCm39)	missense	probably damaging	0.99
R6192:Cenpe	UTSW	3	134,954,291 (GRCm39)	missense	possibly damaging	0.93
R6224:Cenpe	UTSW	3	134,949,536 (GRCm39)	missense	possibly damaging	0.87
R6313:Cenpe	UTSW	3	134,935,936 (GRCm39)	missense	probably benign	0.26
R6326:Cenpe	UTSW	3	134,945,539 (GRCm39)	missense	probably benign	0.15
R6383:Cenpe	UTSW	3	134,957,289 (GRCm39)	missense	probably damaging	1.00
R6418:Cenpe	UTSW	3	134,957,305 (GRCm39)	missense	probably damaging	0.99
R6797:Cenpe	UTSW	3	134,943,899 (GRCm39)	missense	possibly damaging	0.92
R6810:Cenpe	UTSW	3	134,949,583 (GRCm39)	missense	probably benign	0.00
R6989:Cenpe	UTSW	3	134,940,888 (GRCm39)	missense	probably damaging	1.00
R7009:Cenpe	UTSW	3	134,940,963 (GRCm39)	missense	probably benign	0.02
R7009:Cenpe	UTSW	3	134,940,962 (GRCm39)	missense	probably damaging	0.97
R7039:Cenpe	UTSW	3	134,961,217 (GRCm39)	missense	probably benign	0.28
R7387:Cenpe	UTSW	3	134,952,798 (GRCm39)	missense	probably benign	0.05
R7470:Cenpe	UTSW	3	134,947,916 (GRCm39)	missense	probably damaging	1.00
R7535:Cenpe	UTSW	3	134,949,523 (GRCm39)	missense	possibly damaging	0.90
R7562:Cenpe	UTSW	3	134,954,395 (GRCm39)	missense	probably damaging	1.00
R7573:Cenpe	UTSW	3	134,953,220 (GRCm39)	missense	probably damaging	1.00
R7613:Cenpe	UTSW	3	134,948,063 (GRCm39)	missense	possibly damaging	0.90
R7771:Cenpe	UTSW	3	134,946,702 (GRCm39)	splice site	probably null
R7843:Cenpe	UTSW	3	134,938,720 (GRCm39)	nonsense	probably null
R7973:Cenpe	UTSW	3	134,929,011 (GRCm39)	missense	probably damaging	1.00
R8036:Cenpe	UTSW	3	134,945,609 (GRCm39)	frame shift	probably null
R8069:Cenpe	UTSW	3	134,949,479 (GRCm39)	missense	probably damaging	1.00
R8151:Cenpe	UTSW	3	134,952,783 (GRCm39)	missense	probably benign	0.28
R8176:Cenpe	UTSW	3	134,935,851 (GRCm39)	missense	probably damaging	1.00
R8191:Cenpe	UTSW	3	134,957,375 (GRCm39)	missense	probably benign
R8251:Cenpe	UTSW	3	134,957,445 (GRCm39)	critical splice donor site	probably null
R8425:Cenpe	UTSW	3	134,948,388 (GRCm39)	nonsense	probably null
R8488:Cenpe	UTSW	3	134,965,002 (GRCm39)	missense	probably damaging	1.00
R8811:Cenpe	UTSW	3	134,929,001 (GRCm39)	missense	probably damaging	1.00
R8850:Cenpe	UTSW	3	134,930,777 (GRCm39)	missense	probably damaging	1.00
R8879:Cenpe	UTSW	3	134,965,862 (GRCm39)	missense	probably damaging	0.99
R8899:Cenpe	UTSW	3	134,945,644 (GRCm39)	missense	probably benign	0.18
R9035:Cenpe	UTSW	3	134,976,572 (GRCm39)	missense	probably benign	0.01
R9038:Cenpe	UTSW	3	134,923,797 (GRCm39)	missense	probably benign	0.00
R9093:Cenpe	UTSW	3	134,945,641 (GRCm39)	nonsense	probably null
R9221:Cenpe	UTSW	3	134,935,839 (GRCm39)	missense	possibly damaging	0.90
R9365:Cenpe	UTSW	3	134,954,207 (GRCm39)	missense	possibly damaging	0.56
R9443:Cenpe	UTSW	3	134,976,609 (GRCm39)	missense	probably damaging	0.99
Z1177:Cenpe	UTSW	3	134,922,146 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGCTACTGACTTGG -3'
(R):5'- AGGGTCTCATGAAGTCTTTGAG -3'

Sequencing Primer
(F):5'- CTGCTACTGACTTGGGGGAACAG -3'
(R):5'- GTCTCATGAAGTCTTTGAGTCAAG -3'

Posted On

2020-06-17