Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Cenpe'

312578

Institutional Source

Beutler Lab

Gene Symbol

Cenpe

Ensembl Gene

ENSMUSG00000045328

Gene Name

centromere protein E

Synonyms

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

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3975 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

135212537-135273611 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 135238472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

predicted gene model for transcript(s): [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 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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,547,729 (GRCm38)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,392,496 (GRCm38)		probably null	Het
Arap2	G	T	5: 62,748,894 (GRCm38)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,631,433 (GRCm38)	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,480,072 (GRCm38)	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267 (GRCm38)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173 (GRCm38)		probably null	Het
Ccn6	C	G	10: 39,155,098 (GRCm38)	C143S	probably damaging	Het
Ceacam16	C	A	7: 19,853,612 (GRCm38)	Q410H	probably damaging	Het
Clca1	A	T	3: 145,032,639 (GRCm38)	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245 (GRCm38)	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668 (GRCm38)	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541 (GRCm38)	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877 (GRCm38)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992 (GRCm38)	S2027P	possibly damaging	Het
Fbh1	T	C	2: 11,767,210 (GRCm38)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834 (GRCm38)	V171D	probably damaging	Het
Golgb1	T	G	16: 36,918,571 (GRCm38)	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,570,985 (GRCm38)		probably null	Het
Gpx6	C	A	13: 21,317,658 (GRCm38)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm38)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747 (GRCm38)		probably null	Het
Lrba	T	C	3: 86,351,255 (GRCm38)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070 (GRCm38)	V157A	possibly damaging	Het
Niban1	T	C	1: 151,649,335 (GRCm38)	Y164H	probably damaging	Het
Nt5dc2	T	C	14: 31,138,875 (GRCm38)	S439P	probably damaging	Het
Or2ag12	T	C	7: 106,677,785 (GRCm38)	R234G	probably damaging	Het
Or2n1	A	G	17: 38,175,495 (GRCm38)	N137S	probably benign	Het
Or5t18	G	A	2: 86,806,460 (GRCm38)	P180S	possibly damaging	Het
Or8k40	T	A	2: 86,754,543 (GRCm38)	H65L	probably damaging	Het
Orm3	A	T	4: 63,356,158 (GRCm38)		probably null	Het
Otof	A	G	5: 30,370,712 (GRCm38)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015 (GRCm38)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215 (GRCm38)	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206 (GRCm38)	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569 (GRCm38)	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366 (GRCm38)	S1379T	possibly damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm38)		noncoding transcript	Het
Rp1l1	T	A	14: 64,030,309 (GRCm38)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585 (GRCm38)	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813 (GRCm38)	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777 (GRCm38)	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635 (GRCm38)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807 (GRCm38)	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736 (GRCm38)	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930 (GRCm38)	V32A	probably benign	Het
Smc6	T	A	12: 11,274,074 (GRCm38)	F73L	probably damaging	Het
Sorbs2	T	C	8: 45,772,710 (GRCm38)		probably null	Het
Svbp	T	A	4: 119,195,893 (GRCm38)	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567 (GRCm38)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm38)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609 (GRCm38)	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653 (GRCm38)		probably benign	Het
Umodl1	C	A	17: 30,984,789 (GRCm38)	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,559,332 (GRCm38)	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169 (GRCm38)	G295D	probably benign	Het
Zim1	A	T	7: 6,677,130 (GRCm38)	H511Q	probably damaging	Het

Other mutations in Cenpe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Cenpe	APN	3	135,231,455 (GRCm38)	critical splice donor site	probably null
IGL00799:Cenpe	APN	3	135,228,917 (GRCm38)	critical splice donor site	probably null
IGL00815:Cenpe	APN	3	135,259,351 (GRCm38)	missense	probably benign
IGL01446:Cenpe	APN	3	135,237,539 (GRCm38)	missense	probably benign	0.01
IGL01469:Cenpe	APN	3	135,228,806 (GRCm38)	missense	probably damaging	1.00
IGL01843:Cenpe	APN	3	135,218,507 (GRCm38)	missense	possibly damaging	0.88
IGL02254:Cenpe	APN	3	135,255,477 (GRCm38)	missense	probably benign
IGL02337:Cenpe	APN	3	135,220,276 (GRCm38)	splice site	probably benign
IGL02382:Cenpe	APN	3	135,247,386 (GRCm38)	missense	probably benign
IGL02458:Cenpe	APN	3	135,230,108 (GRCm38)	nonsense	probably null
IGL02934:Cenpe	APN	3	135,264,351 (GRCm38)	missense	probably damaging	1.00
IGL03335:Cenpe	APN	3	135,243,625 (GRCm38)	missense	probably benign
R0086:Cenpe	UTSW	3	135,264,424 (GRCm38)	splice site	probably benign
R0173:Cenpe	UTSW	3	135,259,983 (GRCm38)	missense	probably benign	0.00
R0394:Cenpe	UTSW	3	135,216,425 (GRCm38)	splice site	probably benign
R0411:Cenpe	UTSW	3	135,222,255 (GRCm38)	missense	probably damaging	1.00
R0624:Cenpe	UTSW	3	135,246,586 (GRCm38)	missense	probably benign	0.00
R0634:Cenpe	UTSW	3	135,246,827 (GRCm38)	missense	probably damaging	1.00
R0648:Cenpe	UTSW	3	135,230,082 (GRCm38)	missense	probably damaging	1.00
R0691:Cenpe	UTSW	3	135,217,305 (GRCm38)	missense	probably damaging	1.00
R1184:Cenpe	UTSW	3	135,264,422 (GRCm38)	critical splice donor site	probably null
R1530:Cenpe	UTSW	3	135,246,902 (GRCm38)	missense	possibly damaging	0.92
R1559:Cenpe	UTSW	3	135,270,900 (GRCm38)	missense	probably benign	0.07
R1562:Cenpe	UTSW	3	135,238,394 (GRCm38)	missense	possibly damaging	0.53
R1568:Cenpe	UTSW	3	135,239,758 (GRCm38)	missense	probably benign	0.01
R1712:Cenpe	UTSW	3	135,265,933 (GRCm38)	missense	probably damaging	0.99
R1828:Cenpe	UTSW	3	135,246,496 (GRCm38)	missense	probably damaging	0.99
R1846:Cenpe	UTSW	3	135,239,845 (GRCm38)	missense	probably damaging	1.00
R1861:Cenpe	UTSW	3	135,268,979 (GRCm38)	missense	probably damaging	1.00
R1938:Cenpe	UTSW	3	135,247,479 (GRCm38)	missense	probably damaging	0.98
R1961:Cenpe	UTSW	3	135,242,493 (GRCm38)	missense	probably damaging	1.00
R2062:Cenpe	UTSW	3	135,222,321 (GRCm38)	splice site	probably benign
R2118:Cenpe	UTSW	3	135,246,884 (GRCm38)	missense	possibly damaging	0.94
R2127:Cenpe	UTSW	3	135,239,780 (GRCm38)	missense	probably benign	0.08
R2156:Cenpe	UTSW	3	135,247,474 (GRCm38)	missense	probably benign	0.34
R2265:Cenpe	UTSW	3	135,261,636 (GRCm38)	missense	probably benign	0.02
R2268:Cenpe	UTSW	3	135,261,636 (GRCm38)	missense	probably benign	0.02
R2392:Cenpe	UTSW	3	135,248,113 (GRCm38)	missense	probably damaging	1.00
R2508:Cenpe	UTSW	3	135,241,073 (GRCm38)	missense	possibly damaging	0.92
R3084:Cenpe	UTSW	3	135,241,021 (GRCm38)	missense	probably damaging	1.00
R3779:Cenpe	UTSW	3	135,256,576 (GRCm38)	missense	possibly damaging	0.87
R3833:Cenpe	UTSW	3	135,222,322 (GRCm38)	splice site	probably benign
R3974:Cenpe	UTSW	3	135,235,225 (GRCm38)	splice site	probably null
R3975:Cenpe	UTSW	3	135,235,225 (GRCm38)	splice site	probably null
R4151:Cenpe	UTSW	3	135,215,153 (GRCm38)	missense	probably benign	0.36
R4166:Cenpe	UTSW	3	135,243,718 (GRCm38)	missense	probably damaging	1.00
R4581:Cenpe	UTSW	3	135,247,000 (GRCm38)	missense	probably benign	0.30
R4622:Cenpe	UTSW	3	135,243,708 (GRCm38)	missense	probably benign	0.22
R4692:Cenpe	UTSW	3	135,216,379 (GRCm38)	missense	probably benign	0.29
R4769:Cenpe	UTSW	3	135,248,151 (GRCm38)	missense	probably benign
R4976:Cenpe	UTSW	3	135,234,876 (GRCm38)	missense	probably damaging	1.00
R4983:Cenpe	UTSW	3	135,234,928 (GRCm38)	missense	probably damaging	1.00
R4990:Cenpe	UTSW	3	135,256,640 (GRCm38)	missense	probably damaging	1.00
R5002:Cenpe	UTSW	3	135,247,081 (GRCm38)	missense	probably benign
R5057:Cenpe	UTSW	3	135,220,313 (GRCm38)	missense	probably benign	0.14
R5063:Cenpe	UTSW	3	135,270,954 (GRCm38)	missense	probably damaging	0.99
R5181:Cenpe	UTSW	3	135,242,303 (GRCm38)	missense	probably damaging	0.99
R5281:Cenpe	UTSW	3	135,230,150 (GRCm38)	missense	possibly damaging	0.89
R5389:Cenpe	UTSW	3	135,259,388 (GRCm38)	critical splice donor site	probably null
R5517:Cenpe	UTSW	3	135,223,265 (GRCm38)	missense	probably damaging	1.00
R5521:Cenpe	UTSW	3	135,269,065 (GRCm38)	missense	probably damaging	1.00
R5607:Cenpe	UTSW	3	135,235,076 (GRCm38)	nonsense	probably null
R5608:Cenpe	UTSW	3	135,235,076 (GRCm38)	nonsense	probably null
R5627:Cenpe	UTSW	3	135,235,473 (GRCm38)	missense	possibly damaging	0.51
R5766:Cenpe	UTSW	3	135,248,413 (GRCm38)	missense	probably damaging	0.96
R5783:Cenpe	UTSW	3	135,261,580 (GRCm38)	missense	probably benign	0.00
R5933:Cenpe	UTSW	3	135,261,628 (GRCm38)	missense	probably benign	0.03
R6073:Cenpe	UTSW	3	135,260,073 (GRCm38)	nonsense	probably null
R6163:Cenpe	UTSW	3	135,269,003 (GRCm38)	missense	probably damaging	0.99
R6192:Cenpe	UTSW	3	135,248,530 (GRCm38)	missense	possibly damaging	0.93
R6224:Cenpe	UTSW	3	135,243,775 (GRCm38)	missense	possibly damaging	0.87
R6313:Cenpe	UTSW	3	135,230,175 (GRCm38)	missense	probably benign	0.26
R6326:Cenpe	UTSW	3	135,239,778 (GRCm38)	missense	probably benign	0.15
R6383:Cenpe	UTSW	3	135,251,528 (GRCm38)	missense	probably damaging	1.00
R6418:Cenpe	UTSW	3	135,251,544 (GRCm38)	missense	probably damaging	0.99
R6797:Cenpe	UTSW	3	135,238,138 (GRCm38)	missense	possibly damaging	0.92
R6810:Cenpe	UTSW	3	135,243,822 (GRCm38)	missense	probably benign	0.00
R6989:Cenpe	UTSW	3	135,235,127 (GRCm38)	missense	probably damaging	1.00
R7009:Cenpe	UTSW	3	135,235,202 (GRCm38)	missense	probably benign	0.02
R7009:Cenpe	UTSW	3	135,235,201 (GRCm38)	missense	probably damaging	0.97
R7039:Cenpe	UTSW	3	135,255,456 (GRCm38)	missense	probably benign	0.28
R7387:Cenpe	UTSW	3	135,247,037 (GRCm38)	missense	probably benign	0.05
R7470:Cenpe	UTSW	3	135,242,155 (GRCm38)	missense	probably damaging	1.00
R7535:Cenpe	UTSW	3	135,243,762 (GRCm38)	missense	possibly damaging	0.90
R7562:Cenpe	UTSW	3	135,248,634 (GRCm38)	missense	probably damaging	1.00
R7573:Cenpe	UTSW	3	135,247,459 (GRCm38)	missense	probably damaging	1.00
R7613:Cenpe	UTSW	3	135,242,302 (GRCm38)	missense	possibly damaging	0.90
R7741:Cenpe	UTSW	3	135,247,335 (GRCm38)	splice site	probably null
R7771:Cenpe	UTSW	3	135,240,941 (GRCm38)	splice site	probably null
R7843:Cenpe	UTSW	3	135,232,959 (GRCm38)	nonsense	probably null
R7973:Cenpe	UTSW	3	135,223,250 (GRCm38)	missense	probably damaging	1.00
R8036:Cenpe	UTSW	3	135,239,848 (GRCm38)	frame shift	probably null
R8069:Cenpe	UTSW	3	135,243,718 (GRCm38)	missense	probably damaging	1.00
R8151:Cenpe	UTSW	3	135,247,022 (GRCm38)	missense	probably benign	0.28
R8176:Cenpe	UTSW	3	135,230,090 (GRCm38)	missense	probably damaging	1.00
R8191:Cenpe	UTSW	3	135,251,614 (GRCm38)	missense	probably benign
R8251:Cenpe	UTSW	3	135,251,684 (GRCm38)	critical splice donor site	probably null
R8425:Cenpe	UTSW	3	135,242,627 (GRCm38)	nonsense	probably null
R8488:Cenpe	UTSW	3	135,259,241 (GRCm38)	missense	probably damaging	1.00
R8811:Cenpe	UTSW	3	135,223,240 (GRCm38)	missense	probably damaging	1.00
R8850:Cenpe	UTSW	3	135,225,016 (GRCm38)	missense	probably damaging	1.00
R8879:Cenpe	UTSW	3	135,260,101 (GRCm38)	missense	probably damaging	0.99
R8899:Cenpe	UTSW	3	135,239,883 (GRCm38)	missense	probably benign	0.18
R9035:Cenpe	UTSW	3	135,270,811 (GRCm38)	missense	probably benign	0.01
R9038:Cenpe	UTSW	3	135,218,036 (GRCm38)	missense	probably benign	0.00
R9093:Cenpe	UTSW	3	135,239,880 (GRCm38)	nonsense	probably null
R9221:Cenpe	UTSW	3	135,230,078 (GRCm38)	missense	possibly damaging	0.90
R9365:Cenpe	UTSW	3	135,248,446 (GRCm38)	missense	possibly damaging	0.56
R9443:Cenpe	UTSW	3	135,270,848 (GRCm38)	missense	probably damaging	0.99
Z1177:Cenpe	UTSW	3	135,216,385 (GRCm38)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GATTGGTGTGCTTCACAGTC -3'
(R):5'- AGACTGCTGTTACCTCAGGC -3'

Sequencing Primer
(F):5'- CACAGTCTAATGAAGTGGTTTTCTC -3'
(R):5'- TGTTACCTCAGGCTTTTATATCAATC -3'

Posted On

2015-04-30