Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Cenpe'

31840

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

038600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134918324-134979301 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 134922186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	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
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
R7741:Cenpe	UTSW	3	134,953,096 (GRCm39)	splice site	probably null
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'- TAGAACCCGTCTCAGCCACTATGC -3'
(R):5'- ACCACTCGACTGTGTGCTAGGAAG -3'

Sequencing Primer
(F):5'- ACCATTCTGGGTTCTGACAG -3'
(R):5'- CTAGGAAGCCTGAGGTTACTACC -3'

Posted On

2013-04-24