Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Cenpe'

343652

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

041802-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135212537-135273611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135247000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1484 (K1484E)

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062893
AA Change: K1484E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: K1484E

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798 (GRCm38)	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871 (GRCm38)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353 (GRCm38)	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568 (GRCm38)	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608 (GRCm38)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531 (GRCm38)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120 (GRCm38)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021 (GRCm38)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124 (GRCm38)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025 (GRCm38)	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970 (GRCm38)		probably null	Het
Camk1d	A	T	2: 5,354,704 (GRCm38)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783 (GRCm38)	I110N	probably damaging	Het
Cep68	A	G	11: 20,239,333 (GRCm38)	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951 (GRCm38)	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980 (GRCm38)	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088 (GRCm38)	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261 (GRCm38)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984 (GRCm38)		silent	Het
Dlgap2	T	C	8: 14,846,679 (GRCm38)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685 (GRCm38)	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275 (GRCm38)	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464 (GRCm38)	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338 (GRCm38)		probably null	Het
Fbxw7	G	A	3: 84,967,545 (GRCm38)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226 (GRCm38)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683 (GRCm38)	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083 (GRCm38)		probably benign	Het
Irf2bp2	T	A	8: 126,591,255 (GRCm38)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968 (GRCm38)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339 (GRCm38)		probably null	Het
Ltn1	A	T	16: 87,402,024 (GRCm38)		probably null	Het
Mafa	G	T	15: 75,747,736 (GRCm38)	P63T	unknown	Het
Mars2	T	A	1: 55,237,862 (GRCm38)	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459 (GRCm38)	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022 (GRCm38)	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228 (GRCm38)	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894 (GRCm38)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881 (GRCm38)	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505 (GRCm38)	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172 (GRCm38)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224 (GRCm38)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353 (GRCm38)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551 (GRCm38)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300 (GRCm38)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375 (GRCm38)		probably null	Het
Six1	T	G	12: 73,045,934 (GRCm38)	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042 (GRCm38)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740 (GRCm38)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165 (GRCm38)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm38)		probably null	Het
Spryd3	A	G	15: 102,130,364 (GRCm38)	S141P	probably damaging	Het
Src	A	T	2: 157,463,038 (GRCm38)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310 (GRCm38)		probably benign	Het
Stc2	A	G	11: 31,365,326 (GRCm38)		probably null	Het
Taf6l	T	C	19: 8,778,208 (GRCm38)	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722 (GRCm38)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125 (GRCm38)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230 (GRCm38)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm38)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345 (GRCm38)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611 (GRCm38)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117 (GRCm38)	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146 (GRCm38)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704 (GRCm38)	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094 (GRCm38)	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313 (GRCm38)	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668 (GRCm38)	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316 (GRCm38)	E660G	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	135,238,472 (GRCm38)	critical splice donor 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
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'- AAGGTTCAAGAACTCTGTGAGAAAC -3'
(R):5'- ACCCAGGTGCACGTGAATAG -3'

Sequencing Primer
(F):5'- TGTGAGAAACAGGAAGAACTTACTAG -3'
(R):5'- GGTGCACGTGAATAGTTTTAAATTCC -3'

Posted On

2015-09-24