Incidental Mutation 'R5057:Cenpe'
ID 390906
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 042647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5057 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 134918324-134979301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134926074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 243 (A243S)
Ref Sequence ENSEMBL: ENSMUSP00000057938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062893]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062893
AA Change: A243S

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: A243S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency 97% (118/122)
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,581 (GRCm39) H739Q probably benign Het
Acad12 T A 5: 121,748,152 (GRCm39) T89S probably benign Het
Adgb A G 10: 10,233,722 (GRCm39) C1252R probably benign Het
Ankef1 A G 2: 136,392,280 (GRCm39) probably null Het
Ankfy1 T C 11: 72,650,745 (GRCm39) L976P probably damaging Het
Ankib1 T A 5: 3,784,011 (GRCm39) I322F possibly damaging Het
Ankrd61 T A 5: 143,831,613 (GRCm39) T64S probably benign Het
Anxa6 T G 11: 54,892,062 (GRCm39) E298A possibly damaging Het
Apc2 A G 10: 80,144,903 (GRCm39) S605G probably damaging Het
Arih1 T C 9: 59,393,515 (GRCm39) N39S unknown Het
Bicc1 A G 10: 70,783,713 (GRCm39) S393P possibly damaging Het
Bptf A T 11: 106,973,354 (GRCm39) F693L probably damaging Het
Cacng4 A G 11: 107,685,197 (GRCm39) Y32H probably damaging Het
Ccdc50 T A 16: 27,257,092 (GRCm39) D252E probably benign Het
Ccdc92b C A 11: 74,528,976 (GRCm39) T160K probably damaging Het
Cd163 C T 6: 124,302,247 (GRCm39) T937I probably damaging Het
Cdh22 C A 2: 164,958,063 (GRCm39) V635F probably damaging Het
Cep295 A T 9: 15,233,979 (GRCm39) H2272Q probably benign Het
Cgnl1 A T 9: 71,632,076 (GRCm39) V425D probably damaging Het
Clec4b2 A T 6: 123,177,915 (GRCm39) S77C probably null Het
Cntnap5a C T 1: 115,612,943 (GRCm39) T26I probably benign Het
Col6a3 T C 1: 90,743,852 (GRCm39) K165R possibly damaging Het
Copb1 A T 7: 113,825,997 (GRCm39) N662K probably benign Het
Crybg1 T A 10: 43,865,104 (GRCm39) R1458* probably null Het
Cspp1 T A 1: 10,145,186 (GRCm39) probably benign Het
Dhtkd1 A G 2: 5,924,324 (GRCm39) C430R probably damaging Het
Dlg5 T C 14: 24,186,690 (GRCm39) E1847G probably damaging Het
Dync2i1 A T 12: 116,177,033 (GRCm39) N856K probably benign Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Ephb3 A G 16: 21,039,197 (GRCm39) D351G probably damaging Het
Exd2 T A 12: 80,543,564 (GRCm39) N582K probably damaging Het
Fam161a T A 11: 22,970,397 (GRCm39) C192S probably damaging Het
Fbn1 A G 2: 125,308,615 (GRCm39) V149A probably benign Het
Fbxw16 A G 9: 109,270,232 (GRCm39) S170P probably damaging Het
Fndc1 T A 17: 7,990,802 (GRCm39) R965* probably null Het
Frem2 T C 3: 53,442,617 (GRCm39) D2640G probably benign Het
Gfm1 T C 3: 67,380,877 (GRCm39) V664A probably damaging Het
Gm10803 A C 2: 93,394,517 (GRCm39) L96F probably damaging Het
Gm14569 T C X: 35,694,470 (GRCm39) D1413G probably benign Het
Gm44501 A G 17: 40,889,563 (GRCm39) T26A probably benign Het
Gpc4 G A X: 51,163,440 (GRCm39) R148C probably damaging Het
Gpsm1 G A 2: 26,215,369 (GRCm39) R277Q probably damaging Het
Inmt T A 6: 55,151,883 (GRCm39) H29L probably benign Het
Insrr T A 3: 87,722,572 (GRCm39) C1265S probably benign Het
Kctd12 A G 14: 103,219,045 (GRCm39) F278L possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lag3 T A 6: 124,882,318 (GRCm39) I393F possibly damaging Het
Lama2 C T 10: 27,040,982 (GRCm39) C1447Y probably damaging Het
Lama3 G A 18: 12,665,005 (GRCm39) G2275S probably null Het
Lrrc17 A T 5: 21,780,307 (GRCm39) H427L probably benign Het
Med13l T A 5: 118,856,558 (GRCm39) S164T probably damaging Het
Milr1 A G 11: 106,657,791 (GRCm39) D131G possibly damaging Het
Myo5c A T 9: 75,208,155 (GRCm39) T1630S probably damaging Het
Nbeal2 A T 9: 110,460,073 (GRCm39) N1848K probably damaging Het
Ncor2 A T 5: 125,125,130 (GRCm39) V307E possibly damaging Het
Ndufs3 C A 2: 90,729,004 (GRCm39) A161S probably benign Het
Neo1 T C 9: 58,897,554 (GRCm39) D134G probably damaging Het
Nexmif A T X: 103,130,956 (GRCm39) N320K probably damaging Het
Nipal3 T A 4: 135,194,167 (GRCm39) I289F probably damaging Het
Nrg4 A G 9: 55,189,880 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,804 (GRCm39) I528F probably damaging Het
Or11h23 A C 14: 50,948,669 (GRCm39) N294T probably damaging Het
Or3a10 T A 11: 73,935,881 (GRCm39) D73V probably damaging Het
Pate2 T C 9: 35,597,407 (GRCm39) probably benign Het
Pcnx2 T C 8: 126,581,930 (GRCm39) I935M possibly damaging Het
Pik3c2a G T 7: 115,975,518 (GRCm39) T683K possibly damaging Het
Pip5k1c G A 10: 81,146,723 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,781,747 (GRCm39) T766I probably benign Het
Polr3c C A 3: 96,619,373 (GRCm39) L508F probably damaging Het
Por A G 5: 135,759,756 (GRCm39) D189G probably damaging Het
Potefam1 A T 2: 111,055,766 (GRCm39) F207I probably benign Het
Prim2 A T 1: 33,669,441 (GRCm39) L178* probably null Het
Prima1 C A 12: 103,168,864 (GRCm39) probably null Het
Ptpn21 G A 12: 98,645,666 (GRCm39) R1091C probably damaging Het
Ptpn23 G A 9: 110,217,624 (GRCm39) T744I probably benign Het
Rad21 A T 15: 51,830,102 (GRCm39) I503K probably benign Het
Rbm12 A T 2: 155,938,806 (GRCm39) C489S probably benign Het
Rpl10a A T 17: 28,549,607 (GRCm39) H140L probably benign Het
Rpl7-ps8 A T 15: 59,083,004 (GRCm39) noncoding transcript Het
Rtbdn T C 8: 85,681,638 (GRCm39) F143S probably damaging Het
Scamp3 T A 3: 89,089,600 (GRCm39) probably benign Het
Setd5 A G 6: 113,114,922 (GRCm39) S848G probably damaging Het
Sez6 T C 11: 77,863,979 (GRCm39) V487A probably damaging Het
Shc2 G A 10: 79,459,706 (GRCm39) P413S probably benign Het
Sipa1l3 T C 7: 29,070,618 (GRCm39) N966S probably damaging Het
Slc39a8 A G 3: 135,554,790 (GRCm39) E78G probably benign Het
Slc8a3 A G 12: 81,246,332 (GRCm39) V900A probably damaging Het
Slitrk3 T C 3: 72,957,981 (GRCm39) T264A probably benign Het
Spire2 G A 8: 124,084,940 (GRCm39) R260H probably damaging Het
Stk39 T A 2: 68,051,292 (GRCm39) I518F probably damaging Het
Tardbp T A 4: 148,703,813 (GRCm39) probably null Het
Tep1 A G 14: 51,066,456 (GRCm39) Y2335H probably benign Het
Tesl1 G A X: 23,773,480 (GRCm39) G327E probably damaging Het
Tll2 A G 19: 41,105,705 (GRCm39) V358A probably benign Het
Tmem268 C G 4: 63,486,777 (GRCm39) S100C probably damaging Het
Tnfsf9 A G 17: 57,412,444 (GRCm39) T5A probably benign Het
Trappc10 G T 10: 78,052,994 (GRCm39) F260L possibly damaging Het
Trim5 A G 7: 103,914,630 (GRCm39) Y480H probably damaging Het
Trmt112 T C 19: 6,888,121 (GRCm39) V91A probably benign Het
Ttn T A 2: 76,577,379 (GRCm39) K22759* probably null Het
Ttn C A 2: 76,748,988 (GRCm39) L4020F probably benign Het
Ubash3b A G 9: 40,948,755 (GRCm39) C187R possibly damaging Het
Ube3b T C 5: 114,544,318 (GRCm39) F572L probably benign Het
Ubr5 A G 15: 38,004,353 (GRCm39) V1332A probably damaging Het
Ubtd2 C A 11: 32,466,320 (GRCm39) R180S probably damaging Het
Ubtf A G 11: 102,197,913 (GRCm39) S673P probably damaging Het
Ubtfl1 A T 9: 18,320,487 (GRCm39) D5V possibly damaging Het
Usp17la G A 7: 104,510,330 (GRCm39) V312I possibly damaging Het
Usp17ld G T 7: 102,899,655 (GRCm39) H426N probably benign Het
Usp34 A G 11: 23,408,086 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,567,575 (GRCm39) T290S possibly damaging Het
Vmn1r33 T C 6: 66,589,089 (GRCm39) N155S probably benign Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vmn2r6 T A 3: 64,445,207 (GRCm39) K839N probably damaging Het
Vmn2r65 A G 7: 84,589,819 (GRCm39) I699T probably damaging Het
Vps16 A G 2: 130,281,372 (GRCm39) S235G probably benign Het
Vwde T C 6: 13,192,641 (GRCm39) I421V possibly damaging Het
Xiap T C X: 41,183,342 (GRCm39) F23L probably benign Het
Xkr7 A G 2: 152,896,300 (GRCm39) T385A probably benign Het
Znfx1 T C 2: 166,881,746 (GRCm39) Y217C probably damaging 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
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
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
Posted On 2016-06-06