Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Cenpe'

439324

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

043271-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134918324-134979301 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 134940837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 662 (S662*)

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000062893
AA Change: S662*

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: S662*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,516,661 (GRCm39)	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,804,740 (GRCm39)	F851S	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,347,086 (GRCm39)	N1027I	probably benign	Het
Cacng4	A	T	11: 107,625,610 (GRCm39)	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143 (GRCm39)	V199A	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Ctnna1	A	G	18: 35,382,795 (GRCm39)	D647G	probably benign	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Exoc6	T	A	19: 37,566,977 (GRCm39)	V258D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	A	1: 174,437,377 (GRCm39)	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,283,326 (GRCm39)	T60A	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,676,869 (GRCm39)	Y428H	probably damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,771,227 (GRCm39)	V933A	probably damaging	Het
Nepn	A	T	10: 52,277,233 (GRCm39)	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,245 (GRCm39)	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,238,033 (GRCm39)	T199A	probably benign	Het
Obscn	T	G	11: 59,013,674 (GRCm39)	K1150Q	probably benign	Het
Or12j5	A	C	7: 140,084,318 (GRCm39)	V18G	probably benign	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or7a38	A	G	10: 78,752,933 (GRCm39)	I86M	possibly damaging	Het
Or7e170	T	A	9: 19,795,272 (GRCm39)	M110L	probably benign	Het
Otop1	G	A	5: 38,451,848 (GRCm39)	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,078,239 (GRCm39)	D494Y	probably damaging	Het
Pop5	G	A	5: 115,378,260 (GRCm39)	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,800,223 (GRCm39)	D518G	probably benign	Het
Preb	G	T	5: 31,117,307 (GRCm39)		probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rag1	G	A	2: 101,474,137 (GRCm39)	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,608,746 (GRCm39)	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,631,312 (GRCm39)	N649D	probably benign	Het
Smarcal1	A	G	1: 72,625,372 (GRCm39)	D173G	probably benign	Het
Smg7	A	G	1: 152,718,985 (GRCm39)	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,005,246 (GRCm39)	S796T	possibly damaging	Het
Tex14	A	G	11: 87,413,404 (GRCm39)	T1052A	probably benign	Het
Tspan1	A	G	4: 116,021,277 (GRCm39)	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,637,305 (GRCm39)	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Ubr2	G	T	17: 47,245,126 (GRCm39)	C1633*	probably null	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,805,318 (GRCm39)	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably 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
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'- GGCCCTTGACGCTAAGAAAG -3'
(R):5'- GGGAACATTCTCAATTCCTTTGGG -3'

Sequencing Primer
(F):5'- AGAGTCAGCCTTCCTTAGAAGTG -3'
(R):5'- TTTAAGTCAGGGAGCAGATGTC -3'

Posted On

2016-10-26