Incidental Mutation 'R4983:Cenpe'
ID 385703
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 042577-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4983 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 134918324-134979301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134940689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 649 (S649R)
Ref Sequence ENSEMBL: ENSMUSP00000057938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062893]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062893
AA Change: S649R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: S649R

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
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (103/106)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T G 19: 42,041,515 (GRCm39) S215R possibly damaging Het
Abcc9 T C 6: 142,627,867 (GRCm39) M388V probably benign Het
Acbd6 A C 1: 155,477,275 (GRCm39) T154P probably benign Het
Ago1 T C 4: 126,347,447 (GRCm39) D434G probably damaging Het
Ankib1 A T 5: 3,819,652 (GRCm39) M89K probably benign Het
Arap2 A T 5: 62,833,868 (GRCm39) H866Q probably damaging Het
Armh3 T C 19: 45,939,146 (GRCm39) T335A probably benign Het
Capn12 A T 7: 28,589,795 (GRCm39) H622L probably benign Het
Capns2 T G 8: 93,628,530 (GRCm39) F140V probably damaging Het
Catsper1 T G 19: 5,385,991 (GRCm39) F75V probably benign Het
Ccdc24 T C 4: 117,729,297 (GRCm39) N16S probably benign Het
Cdkn2aip A T 8: 48,165,964 (GRCm39) L114Q probably damaging Het
Chgb A T 2: 132,635,602 (GRCm39) R515W probably damaging Het
Chrnb1 A G 11: 69,684,804 (GRCm39) F123S probably damaging Het
Copz2 A T 11: 96,748,377 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Daw1 C A 1: 83,165,719 (GRCm39) A178E probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epb41l5 T C 1: 119,482,801 (GRCm39) D629G probably benign Het
Erap1 A G 13: 74,838,829 (GRCm39) E925G probably benign Het
Exoc7 A C 11: 116,180,095 (GRCm39) F657V probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Homo
Fry A G 5: 150,321,719 (GRCm39) E1018G probably damaging Het
Galc A T 12: 98,209,027 (GRCm39) L15* probably null Het
Gm11232 T A 4: 71,675,138 (GRCm39) K121N possibly damaging Het
Hectd1 A T 12: 51,831,045 (GRCm39) D931E probably benign Het
Hecw2 T C 1: 53,871,830 (GRCm39) H1372R probably benign Het
Ighv3-2 T A 12: 113,997,606 (GRCm39) noncoding transcript Het
Kcns2 T G 15: 34,839,751 (GRCm39) S371R probably damaging Het
Kif23 T C 9: 61,843,985 (GRCm39) K175E probably benign Het
Kmt2c G A 5: 25,500,509 (GRCm39) R436W possibly damaging Het
Lama5 A G 2: 179,835,242 (GRCm39) S1317P probably benign Het
Lce1e T C 3: 92,615,135 (GRCm39) S71G unknown Het
Lrrc37a T A 11: 103,388,444 (GRCm39) E2327V unknown Het
Map3k20 A G 2: 72,232,411 (GRCm39) M356V probably benign Het
Med12l C T 3: 59,169,350 (GRCm39) A1580V probably damaging Het
Metap2 G T 10: 93,725,462 (GRCm39) T30K possibly damaging Het
Mysm1 T A 4: 94,861,207 (GRCm39) T53S probably benign Het
Nasp A T 4: 116,459,382 (GRCm39) D717E probably damaging Het
Ndnf G A 6: 65,680,555 (GRCm39) R278H possibly damaging Het
Neb A T 2: 52,106,273 (GRCm39) N4205K probably damaging Het
Nebl A T 2: 17,380,082 (GRCm39) I764N possibly damaging Het
Nucb1 A G 7: 45,148,313 (GRCm39) Y131H probably damaging Het
Or14c39 A C 7: 86,343,687 (GRCm39) T8P probably benign Het
Or1e22 A G 11: 73,377,623 (GRCm39) I9T probably benign Het
Or5l14 G T 2: 87,793,042 (GRCm39) H65N probably benign Het
Oscp1 T A 4: 125,970,555 (GRCm39) C115S probably benign Het
Paip2 C T 18: 35,746,412 (GRCm39) R59C possibly damaging Het
Pate10 T G 9: 35,653,465 (GRCm39) F90V probably benign Het
Pcdhga4 G A 18: 37,819,572 (GRCm39) D374N probably damaging Het
Pcolce G T 5: 137,603,936 (GRCm39) probably benign Het
Pcyox1l T C 18: 61,832,468 (GRCm39) E193G probably damaging Het
Pde6b A T 5: 108,573,196 (GRCm39) Q522L probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf11a A G 14: 59,521,887 (GRCm39) F95L probably benign Het
Pja2 A C 17: 64,616,053 (GRCm39) S281A probably benign Het
Plekhm2 A G 4: 141,361,687 (GRCm39) F272S probably damaging Het
Pom121l2 T C 13: 22,167,984 (GRCm39) S752P probably benign Het
Ppl T C 16: 4,906,582 (GRCm39) T1238A possibly damaging Het
Prmt7 A G 8: 106,976,995 (GRCm39) Y569C probably damaging Het
Prss37 G A 6: 40,493,070 (GRCm39) T132I probably benign Het
Psmf1 A T 2: 151,571,377 (GRCm39) probably benign Het
Ptprj A C 2: 90,290,876 (GRCm39) I528S probably damaging Het
Reg1 A G 6: 78,405,196 (GRCm39) T140A possibly damaging Het
Rtn4 A G 11: 29,657,217 (GRCm39) N457S probably benign Het
Rusf1 C T 7: 127,875,645 (GRCm39) probably benign Het
Scn9a T C 2: 66,396,614 (GRCm39) K93R probably benign Het
Sec16a A G 2: 26,329,531 (GRCm39) V828A probably benign Het
Sec23b T A 2: 144,423,873 (GRCm39) D507E probably benign Het
Sirt4 A T 5: 115,620,850 (GRCm39) F107L probably benign Het
Slc14a2 A T 18: 78,193,616 (GRCm39) L862Q probably damaging Het
Slc16a4 T C 3: 107,208,176 (GRCm39) S229P probably benign Het
Slc37a3 A T 6: 39,329,651 (GRCm39) C185* probably null Het
Slc5a2 A T 7: 127,870,982 (GRCm39) *154C probably null Het
Snx17 A G 5: 31,353,138 (GRCm39) S42G possibly damaging Het
Tgm6 T C 2: 129,983,113 (GRCm39) V234A probably damaging Het
Thbs4 A G 13: 92,927,207 (GRCm39) M94T probably benign Het
Thtpa A G 14: 55,309,605 (GRCm39) probably benign Het
Tie1 T C 4: 118,340,952 (GRCm39) E343G probably damaging Het
Tmem145 A G 7: 25,008,027 (GRCm39) I238V probably benign Het
Tmprss11f T C 5: 86,685,858 (GRCm39) S170G probably benign Het
Tnk2 T A 16: 32,499,283 (GRCm39) D865E probably damaging Het
Ttll8 T C 15: 88,809,785 (GRCm39) E337G probably benign Het
Ttn G A 2: 76,697,790 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,990,494 (GRCm39) E710G probably damaging Het
Txndc2 T A 17: 65,945,055 (GRCm39) H374L probably benign Het
Unc80 G T 1: 66,713,891 (GRCm39) probably null Het
Vmn2r23 G A 6: 123,710,308 (GRCm39) C537Y probably damaging Het
Vmn2r45 A G 7: 8,486,116 (GRCm39) F391L probably damaging Het
Vstm4 A T 14: 32,641,202 (GRCm39) T262S probably benign Het
Zfp180 C T 7: 23,805,503 (GRCm39) R641C probably damaging Het
Zfp979 A T 4: 147,698,371 (GRCm39) S113T possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Zswim5 T A 4: 116,842,883 (GRCm39) M876K possibly 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
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'- GCATAGCTTCACATTTGATCATCTAGG -3'
(R):5'- GCGTTGATACATCTGAATGTCAC -3'

Sequencing Primer
(F):5'- TATCATCTGCCTAGGACG -3'
(R):5'- GAATGTCACTTTCCATTTGCTTACGG -3'
Posted On 2016-05-10