Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Cenpe'

510389

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

044480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135212537-135273611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135239778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1018 (N1018D)

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: N1018D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: N1018D

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	T	7: 67,120,888 (GRCm38)	Y915F	probably benign	Het
Adap2	T	A	11: 80,155,022 (GRCm38)	F43I	probably damaging	Het
Adprs	A	T	4: 126,316,613 (GRCm38)	L358Q	possibly damaging	Het
Akap9	A	C	5: 3,962,061 (GRCm38)	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,245,375 (GRCm38)	S389P	probably benign	Het
Atg2b	A	T	12: 105,661,092 (GRCm38)	C545*	probably null	Het
C2cd3	A	G	7: 100,416,428 (GRCm38)	E807G	probably benign	Het
Ccdc110	A	G	8: 45,942,041 (GRCm38)	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,235,454 (GRCm38)	S1711C	probably damaging	Het
Cebpzos	T	G	17: 78,919,057 (GRCm38)	D39E	probably damaging	Het
Cfap68	T	G	9: 50,764,757 (GRCm38)	N87T	probably damaging	Het
Clspn	C	A	4: 126,565,739 (GRCm38)	H141Q	probably damaging	Het
Cluh	C	T	11: 74,666,242 (GRCm38)	A1010V	probably benign	Het
Col27a1	G	T	4: 63,324,441 (GRCm38)		probably benign	Het
Cpt2	T	C	4: 107,914,316 (GRCm38)	M61V	probably benign	Het
Ddr2	T	A	1: 169,987,140 (GRCm38)	H578L	probably damaging	Het
Dnah14	T	A	1: 181,783,556 (GRCm38)	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,680,925 (GRCm38)	T264A	possibly damaging	Het
Ecpas	T	A	4: 58,827,068 (GRCm38)	T1022S	probably benign	Het
Eml6	T	C	11: 29,819,066 (GRCm38)	N693S	probably damaging	Het
Ephx4	A	G	5: 107,406,111 (GRCm38)	E9G	probably damaging	Het
Eps15l1	G	A	8: 72,341,434 (GRCm38)	Q747*	probably null	Het
Flrt1	C	T	19: 7,096,609 (GRCm38)	S191N	probably damaging	Het
Gm5114	C	T	7: 39,408,155 (GRCm38)	R680H	probably benign	Het
Gm5431	T	C	11: 48,889,345 (GRCm38)	H250R	probably damaging	Het
Gm7233	T	C	14: 43,182,885 (GRCm38)	C198R	possibly damaging	Het
Herc2	C	G	7: 56,222,934 (GRCm38)	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,543,005 (GRCm38)		probably benign	Het
Hoxb7	C	A	11: 96,287,083 (GRCm38)	A119E	probably benign	Het
Ifi207	A	T	1: 173,729,966 (GRCm38)	M402K	probably benign	Het
Ints14	T	C	9: 64,964,437 (GRCm38)	V19A	probably benign	Het
Itgae	T	A	11: 73,131,693 (GRCm38)	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,076,326 (GRCm38)	S145G	probably damaging	Het
Klhdc4	A	G	8: 121,805,054 (GRCm38)	W187R	probably damaging	Het
Krt1	A	T	15: 101,850,249 (GRCm38)	I160N	probably damaging	Het
Krt12	T	C	11: 99,416,919 (GRCm38)	T448A	probably benign	Het
Lcmt2	G	A	2: 121,139,457 (GRCm38)	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651 (GRCm38)	S221N	probably damaging	Het
Med17	T	C	9: 15,279,558 (GRCm38)	D79G	probably benign	Het
Mlf1	A	T	3: 67,399,727 (GRCm38)	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,994,895 (GRCm38)	F153I	probably damaging	Het
Msto1	A	C	3: 88,912,098 (GRCm38)	V149G	probably damaging	Het
Mybl1	T	C	1: 9,678,507 (GRCm38)		probably null	Het
Myoc	A	G	1: 162,649,011 (GRCm38)	Y428C	probably damaging	Het
Nin	A	G	12: 70,045,181 (GRCm38)	S785P	possibly damaging	Het
Oit3	A	T	10: 59,428,239 (GRCm38)	F358I	probably damaging	Het
Or5t15	C	T	2: 86,850,994 (GRCm38)	V235I	probably benign	Het
Or6c88	A	G	10: 129,570,702 (GRCm38)	T16A	possibly damaging	Het
Paip1	A	G	13: 119,430,217 (GRCm38)	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,722,456 (GRCm38)	S635P	probably benign	Het
Pcsk1	A	G	13: 75,132,179 (GRCm38)	N708D	possibly damaging	Het
Plch1	C	T	3: 63,781,390 (GRCm38)	W131*	probably null	Het
Prag1	A	T	8: 36,102,706 (GRCm38)	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,543,545 (GRCm38)	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,747,146 (GRCm38)	V568D	probably damaging	Het
Rb1	A	T	14: 73,198,534 (GRCm38)	M897K	probably benign	Het
Resf1	T	A	6: 149,328,995 (GRCm38)	Y1180N	probably damaging	Het
Robo3	T	A	9: 37,427,027 (GRCm38)	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,266,002 (GRCm38)	V420A	possibly damaging	Het
Sall1	A	T	8: 89,030,268 (GRCm38)	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,372,468 (GRCm38)	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,612,410 (GRCm38)	Y362*	probably null	Het
Slc5a9	T	C	4: 111,880,253 (GRCm38)	E603G	probably benign	Het
Slc6a17	A	T	3: 107,500,406 (GRCm38)	I83N	probably damaging	Het
Snx29	G	T	16: 11,403,566 (GRCm38)	M285I	probably benign	Het
Spata2	T	C	2: 167,484,174 (GRCm38)	T242A	possibly damaging	Het
Stard13	A	G	5: 151,046,919 (GRCm38)	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045 (GRCm38)	V2088A	possibly damaging	Het
Tdp2	A	G	13: 24,840,557 (GRCm38)	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 145,269,224 (GRCm38)	I422L	probably damaging	Het
Tpk1	T	A	6: 43,346,802 (GRCm38)	T189S	possibly damaging	Het
Trhde	A	T	10: 114,567,224 (GRCm38)	M498K	probably damaging	Het
Trim35	T	A	14: 66,303,204 (GRCm38)	H168Q	possibly damaging	Het
Tubb5	T	C	17: 35,836,455 (GRCm38)		probably benign	Het
Tut4	C	T	4: 108,478,980 (GRCm38)	T6I	probably benign	Het
Vmn1r181	G	A	7: 23,984,758 (GRCm38)	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,801,823 (GRCm38)	G306R	probably benign	Het
Xkr4	C	T	1: 3,671,038 (GRCm38)	R104H	possibly damaging	Het
Zfp398	T	C	6: 47,866,421 (GRCm38)	I337T	possibly 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
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
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'- ACTTCTGGCCAGTGAACAG -3'
(R):5'- CTATAGAGAGCTAGATCCTACCATTTC -3'

Sequencing Primer
(F):5'- GAACCCAAAGCTAGCTGTCTGTATG -3'
(R):5'- ACCATTTCGATATTTTCCTTTAGGTC -3'

Posted On

2018-04-02