Incidental Mutation 'R2508:Cenpe'
ID 251470
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 040414-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2508 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 134918324-134979301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134946834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1116 (R1116S)
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: R1116S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: R1116S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 97.3%
  • 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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,872,132 (GRCm39) T20I probably benign Het
Adamts2 C T 11: 50,679,516 (GRCm39) T832I possibly damaging Het
Agbl1 G A 7: 76,239,298 (GRCm39) probably null Het
Ankrd61 T C 5: 143,833,894 (GRCm39) probably benign Het
Anpep T G 7: 79,488,039 (GRCm39) Y506S possibly damaging Het
Aox1 T A 1: 58,382,832 (GRCm39) H1037Q probably benign Het
Auh G A 13: 53,052,755 (GRCm39) R47* probably null Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh3 T C 8: 107,279,039 (GRCm39) L667P probably damaging Het
Ces1b T A 8: 93,799,969 (GRCm39) M136L possibly damaging Het
Cfap54 T C 10: 92,833,236 (GRCm39) E1130G possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clu T C 14: 66,212,452 (GRCm39) V135A probably damaging Het
Cmip T A 8: 118,163,432 (GRCm39) S388T probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Crym T C 7: 119,801,050 (GRCm39) N33S probably benign Het
Ctcf T A 8: 106,398,016 (GRCm39) V434E probably damaging Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dcaf13 A G 15: 39,008,547 (GRCm39) Y383C probably benign Het
Dock2 T C 11: 34,262,485 (GRCm39) T957A probably benign Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Eif1ad16 T C 12: 87,985,258 (GRCm39) Y95C probably damaging Het
Fads3 A G 19: 10,033,818 (GRCm39) Y401C probably damaging Het
Fam72a T C 1: 131,456,592 (GRCm39) probably null Het
Fbxw21 C A 9: 108,974,553 (GRCm39) K322N probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Glb1l T C 1: 75,178,473 (GRCm39) T322A probably damaging Het
Gm6871 T A 7: 41,197,414 (GRCm39) T149S probably benign Het
Gpr26 C T 7: 131,568,823 (GRCm39) T56I probably damaging Het
Grik4 C A 9: 42,533,438 (GRCm39) G361C probably damaging Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Igsf5 T A 16: 96,165,247 (GRCm39) D7E probably benign Het
Inpp5e T A 2: 26,289,355 (GRCm39) I522F probably damaging Het
Insm2 C A 12: 55,647,096 (GRCm39) T280K probably benign Het
Itih4 T C 14: 30,617,435 (GRCm39) V585A probably damaging Het
Katnip T A 7: 125,394,515 (GRCm39) V197D probably benign Het
Knl1 A T 2: 118,888,849 (GRCm39) R17* probably null Het
Lag3 G T 6: 124,888,272 (GRCm39) L15I possibly damaging Het
Lepr T A 4: 101,648,093 (GRCm39) S861T probably damaging Het
Mcur1 A T 13: 43,697,941 (GRCm39) Y320N probably damaging Het
Mgam A T 6: 40,736,717 (GRCm39) D872V probably damaging Het
Mlycd T C 8: 120,134,446 (GRCm39) probably null Het
Mpl C A 4: 118,312,954 (GRCm39) C193F probably damaging Het
Mycbp2 C A 14: 103,368,681 (GRCm39) A4142S probably damaging Het
Myh1 T A 11: 67,104,424 (GRCm39) D993E possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Neb T C 2: 52,085,533 (GRCm39) I1521V probably benign Het
Notch1 A G 2: 26,355,485 (GRCm39) V1744A possibly damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4p20 T C 2: 88,253,800 (GRCm39) T190A possibly damaging Het
Or6c66 T A 10: 129,461,784 (GRCm39) I49L probably benign Het
Or8k23 A G 2: 86,186,708 (GRCm39) L6P possibly damaging Het
Otogl A G 10: 107,710,361 (GRCm39) L576P probably damaging Het
P2ry1 C T 3: 60,910,900 (GRCm39) T13M probably damaging Het
Pak6 A T 2: 118,525,050 (GRCm39) R559* probably null Het
Parvb A T 15: 84,182,171 (GRCm39) M234L probably benign Het
Pcdha11 T C 18: 37,145,907 (GRCm39) V666A possibly damaging Het
Pde3b T A 7: 114,126,092 (GRCm39) Y775* probably null Het
Pgam5 A G 5: 110,413,869 (GRCm39) L98P probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkib T G 10: 57,604,205 (GRCm39) D4E probably damaging Het
Plcb1 A T 2: 135,102,428 (GRCm39) I202F probably benign Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Prdm1 T A 10: 44,322,803 (GRCm39) T249S probably benign Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rassf2 A T 2: 131,840,163 (GRCm39) probably null Het
Rnf185 A G 11: 3,368,067 (GRCm39) Y204H probably benign Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Scn11a T A 9: 119,594,595 (GRCm39) Y1266F probably damaging Het
Senp7 T A 16: 55,971,725 (GRCm39) H287Q probably benign Het
Sgsm3 T C 15: 80,888,073 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,658 (GRCm39) V104E possibly damaging Het
Slc25a13 G A 6: 6,117,190 (GRCm39) T175I probably benign Het
Slc26a3 T A 12: 31,520,902 (GRCm39) F702Y probably damaging Het
Smco2 T A 6: 146,761,465 (GRCm39) L184H probably damaging Het
Ssc4d A T 5: 135,994,461 (GRCm39) C90S probably damaging Het
Sspo T C 6: 48,441,298 (GRCm39) S1835P probably damaging Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Syngr1 C T 15: 79,995,941 (GRCm39) T160M probably damaging Het
Tent2 A G 13: 93,320,726 (GRCm39) L109S probably damaging Het
Tgfb1i1 A G 7: 127,848,085 (GRCm39) probably null Het
Thoc1 T A 18: 9,977,947 (GRCm39) V296E probably damaging Het
Timp2 C T 11: 118,201,412 (GRCm39) C75Y probably damaging Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tprn G A 2: 25,158,940 (GRCm39) E655K possibly damaging Het
Trbv14 A C 6: 41,112,424 (GRCm39) I74L probably benign Het
Trbv5 T A 6: 41,039,555 (GRCm39) Y53* probably null Het
Trpm5 T C 7: 142,642,656 (GRCm39) Q97R possibly damaging Het
Tut1 A G 19: 8,932,931 (GRCm39) D88G probably damaging Het
Ucp2 A T 7: 100,147,620 (GRCm39) I200F probably benign Het
Unc45a G A 7: 79,988,623 (GRCm39) S131L probably benign Het
Uty A T Y: 1,158,182 (GRCm39) H573Q probably damaging Het
Vmn1r17 T A 6: 57,337,855 (GRCm39) Y121F possibly damaging Het
Vmn1r53 T C 6: 90,200,554 (GRCm39) I257V probably benign Het
Vmn2r90 C T 17: 17,954,229 (GRCm39) L798F probably damaging Het
Vmn2r94 A T 17: 18,477,736 (GRCm39) M225K probably benign Het
Wdr24 A T 17: 26,043,273 (GRCm39) I32F possibly damaging Het
Zc3h11a T A 1: 133,552,521 (GRCm39) T529S probably benign Het
Zc3h4 A G 7: 16,168,264 (GRCm39) H791R unknown Het
Zfp24 A G 18: 24,150,927 (GRCm39) L73P probably damaging Het
Zfp616 T C 11: 73,974,121 (GRCm39) I130T probably benign Het
Zim1 ACAGCAG ACAGCAGCAG 7: 6,680,429 (GRCm39) probably benign Het
Zim1 CAG CAGAAG 7: 6,680,430 (GRCm39) probably benign Het
Other mutations in Cenpe
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTGCCTTTTGCTCTGTAG -3'
(R):5'- ATGCATTTCTGTCTTGTAAGCC -3'

Sequencing Primer
(F):5'- CTCTGTAGTTGCACTTGGATTTC -3'
(R):5'- AGAGTCTCAGTCTATAGCTCAGGC -3'
Posted On 2014-12-04