Mutagenetix > Incidental Mutation

Incidental Mutation 'R6224:Cenpe'

504185

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

044355-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134918324-134979301 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134949536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1335 (I1335T)

Ref Sequence

ENSEMBL: ENSMUSP00000057938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062893
AA Change: I1335T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: I1335T

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
AA Change: I107T

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143435
Gene: ENSMUSG00000045328
AA Change: I107T

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	C	11: 99,728,840 (GRCm39)	M1R	probably null	Het
4930505A04Rik	A	C	11: 30,404,815 (GRCm39)	N29K	probably benign	Het
Adamtsl4	T	C	3: 95,589,039 (GRCm39)	Y464C	probably damaging	Het
Asgr2	T	C	11: 69,989,072 (GRCm39)	V172A	probably damaging	Het
Atad1	T	C	19: 32,676,028 (GRCm39)	Y132C	probably damaging	Het
Bpifa6	G	A	2: 153,829,073 (GRCm39)	R200H	probably damaging	Het
Brd1	A	T	15: 88,572,558 (GRCm39)	M1171K	possibly damaging	Het
Cadm2	A	T	16: 66,461,281 (GRCm39)	L392Q	probably damaging	Het
Ccdc183	C	T	2: 25,500,594 (GRCm39)	E333K	possibly damaging	Het
Cpxm2	T	C	7: 131,745,460 (GRCm39)	N122D	probably benign	Het
Crls1	T	A	2: 132,691,770 (GRCm39)		probably null	Het
Cyp46a1	T	C	12: 108,327,819 (GRCm39)	F460S	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcps	T	A	9: 35,047,777 (GRCm39)	T128S	probably benign	Het
Dcun1d3	A	T	7: 119,458,714 (GRCm39)	L107*	probably null	Het
Eml1	T	C	12: 108,480,767 (GRCm39)	F397S	probably damaging	Het
Fanca	T	A	8: 124,032,020 (GRCm39)	H348L	possibly damaging	Het
Foxo1	T	A	3: 52,253,093 (GRCm39)	S419T	probably benign	Het
Gli3	T	C	13: 15,899,730 (GRCm39)	V1039A	probably benign	Het
Gng14	A	T	8: 85,794,220 (GRCm39)	*73R	probably null	Het
Gp6	A	T	7: 4,397,211 (GRCm39)	F75I	probably benign	Het
Gpha2	T	A	19: 6,277,142 (GRCm39)	I81N	possibly damaging	Het
Gspt1	C	A	16: 11,042,406 (GRCm39)	V493L	probably benign	Het
Igsf10	C	A	3: 59,232,931 (GRCm39)	C1934F	probably damaging	Het
Irgm1	T	C	11: 48,757,713 (GRCm39)	T49A	probably benign	Het
Klc4	A	G	17: 46,950,988 (GRCm39)	I207T	possibly damaging	Het
Krt1	A	T	15: 101,758,702 (GRCm39)	V154D	possibly damaging	Het
Lama1	T	C	17: 68,109,982 (GRCm39)	V2201A	possibly damaging	Het
Lilrb4a	T	A	10: 51,367,745 (GRCm39)	Y96N	probably damaging	Het
Lrfn2	A	G	17: 49,403,379 (GRCm39)	T501A	probably damaging	Het
Lrriq1	A	G	10: 103,051,618 (GRCm39)	I378T	probably damaging	Het
Mphosph8	T	C	14: 56,905,810 (GRCm39)	M1T	probably null	Het
Nsd1	T	C	13: 55,460,945 (GRCm39)	S2391P	possibly damaging	Het
Ogdhl	G	A	14: 32,064,018 (GRCm39)	G647D	probably benign	Het
Or5p57	T	C	7: 107,665,949 (GRCm39)	I19V	probably benign	Het
Or6c76b	A	G	10: 129,693,061 (GRCm39)	K225E	probably benign	Het
Pbrm1	T	A	14: 30,772,068 (GRCm39)	H387Q	probably benign	Het
Pdgfrb	C	A	18: 61,215,011 (GRCm39)	Y1013*	probably null	Het
Pitrm1	T	C	13: 6,615,090 (GRCm39)	V562A	probably damaging	Het
Pnpla8	T	C	12: 44,329,811 (GRCm39)	V121A	possibly damaging	Het
Psd4	T	C	2: 24,291,569 (GRCm39)	L639P	probably damaging	Het
Psmc3	G	T	2: 90,884,975 (GRCm39)	R47L	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sesn2	A	G	4: 132,229,881 (GRCm39)	V50A	probably benign	Het
Skic3	C	T	13: 76,266,410 (GRCm39)	T219M	probably benign	Het
Slc6a16	G	A	7: 44,910,572 (GRCm39)	G377S	probably damaging	Het
Slitrk1	A	G	14: 109,149,454 (GRCm39)	F419S	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,854,134 (GRCm39)		probably benign	Homo
Tgoln1	A	T	6: 72,592,984 (GRCm39)	D165E	possibly damaging	Het
Tmprss15	T	A	16: 78,821,266 (GRCm39)	T492S	probably benign	Het
Zc3h13	T	A	14: 75,574,849 (GRCm39)	M1565K	probably damaging	Het
Zcwpw1	T	C	5: 137,810,298 (GRCm39)	V358A	possibly damaging	Het
Zfp607a	A	G	7: 27,578,007 (GRCm39)	H359R	probably damaging	Het
Zzef1	T	A	11: 72,746,209 (GRCm39)	V837E	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
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
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'- GTCACAAGGTTCCAGAGCAAG -3'
(R):5'- GTGAGATTTTAACTGTGACACAAGC -3'

Sequencing Primer
(F):5'- CAAGAGCTGCTTCCTGTTGTCAAAG -3'
(R):5'- TTAATCCCAGCGCTTGAGAG -3'

Posted On

2018-02-28