Incidental Mutation 'R1828:Cenpe'
ID 206991
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 039855-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1828 (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 G at 134952257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1373 (T1373A)
Ref Sequence ENSEMBL: ENSMUSP00000057938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062893] [ENSMUST00000197369]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062893
AA Change: T1373A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: T1373A

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 possibly damaging
Transcript: ENSMUST00000197369
AA Change: T145A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143435
Gene: ENSMUSG00000045328
AA Change: T145A

DomainStartEndE-ValueType
coiled coil region 2 49 N/A INTRINSIC
coiled coil region 85 172 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,190,962 (GRCm39) T156A probably benign Het
9230106D20Rik A T 10: 19,536,065 (GRCm39) noncoding transcript Het
Abca3 A G 17: 24,585,171 (GRCm39) D144G probably benign Het
Anxa2 T A 9: 69,390,260 (GRCm39) L121Q probably damaging Het
Anxa7 A T 14: 20,512,732 (GRCm39) I267N probably damaging Het
Asb14 A T 14: 26,633,797 (GRCm39) D334V possibly damaging Het
Batf3 A G 1: 190,830,714 (GRCm39) N20S probably benign Het
Bub1b A G 2: 118,468,920 (GRCm39) H895R probably benign Het
C1qtnf12 G A 4: 156,050,160 (GRCm39) probably null Het
Cars1 T C 7: 143,130,385 (GRCm39) I294V probably damaging Het
Ccdc142 G A 6: 83,084,462 (GRCm39) A527T probably damaging Het
Ccdc168 A T 1: 44,096,234 (GRCm39) N1621K possibly damaging Het
Ccdc92 T C 5: 124,913,242 (GRCm39) N96D probably benign Het
Ceacam18 T A 7: 43,288,880 (GRCm39) D210E probably benign Het
Cfap161 T G 7: 83,440,932 (GRCm39) probably null Het
Cimip4 T C 15: 78,270,588 (GRCm39) Y60C possibly damaging Het
Cldn19 A G 4: 119,112,990 (GRCm39) D74G probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cox7a2l T A 17: 83,811,397 (GRCm39) Q78L probably benign Het
Crot T C 5: 9,019,080 (GRCm39) N491S probably benign Het
Cspg4b T A 13: 113,505,342 (GRCm39) L2157Q probably damaging Het
Ctr9 A G 7: 110,643,165 (GRCm39) probably null Het
Cyp4f14 T G 17: 33,130,209 (GRCm39) D190A probably damaging Het
D630039A03Rik C T 4: 57,910,240 (GRCm39) V191I probably benign Het
Dnah10 A T 5: 124,838,343 (GRCm39) N1124I probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Epdr1 G A 13: 19,778,773 (GRCm39) Q6* probably null Het
Erbin A G 13: 103,996,577 (GRCm39) probably null Het
Ero1a A T 14: 45,525,217 (GRCm39) I436K probably damaging Het
Exph5 A T 9: 53,287,941 (GRCm39) Q1674L possibly damaging Het
Fat4 A T 3: 39,037,607 (GRCm39) Y3753F probably damaging Het
Gaa T C 11: 119,174,098 (GRCm39) V763A probably damaging Het
Golim4 G A 3: 75,809,745 (GRCm39) T216I probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gtf2f2 A G 14: 76,245,143 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,469,694 (GRCm39) Y70C probably damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hecw2 T C 1: 53,965,182 (GRCm39) D548G probably benign Het
Hr G A 14: 70,809,477 (GRCm39) probably null Het
Hrg A C 16: 22,774,853 (GRCm39) E161A probably damaging Het
Hydin A T 8: 111,237,526 (GRCm39) N1933I probably benign Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kif5c T C 2: 49,570,252 (GRCm39) probably null Het
Mgat5b C A 11: 116,868,614 (GRCm39) H512Q probably damaging Het
Mtmr4 T C 11: 87,502,943 (GRCm39) V999A probably benign Het
Mttp G T 3: 137,813,041 (GRCm39) Q545K probably damaging Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nexn A G 3: 151,948,405 (GRCm39) I386T probably damaging Het
Nrip3 A G 7: 109,365,763 (GRCm39) S85P probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olr1 T C 6: 129,465,895 (GRCm39) N37S possibly damaging Het
Or14j5 C T 17: 38,161,966 (GRCm39) A161V probably benign Het
Or4b1d A G 2: 89,968,931 (GRCm39) L184S probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or5p80 G T 7: 108,229,855 (GRCm39) V219F possibly damaging Het
Pax4 T C 6: 28,443,446 (GRCm39) Y290C probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pglyrp4 T C 3: 90,640,310 (GRCm39) Y187H probably damaging Het
Pi4ka A G 16: 17,098,614 (GRCm39) M2017T probably benign Het
Pkdrej T C 15: 85,703,483 (GRCm39) T818A possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Pygm T C 19: 6,447,637 (GRCm39) I648T possibly damaging Het
Rab4a A T 8: 124,550,565 (GRCm39) K15I probably damaging Het
Rasa3 T C 8: 13,635,035 (GRCm39) E428G probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rpl3 C T 15: 79,964,591 (GRCm39) V222M possibly damaging Het
Rtl9 C T X: 141,886,011 (GRCm39) S1141F possibly damaging Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Sfswap C T 5: 129,590,148 (GRCm39) T215I probably damaging Het
Slit2 A G 5: 48,461,372 (GRCm39) D1456G probably damaging Het
Tex19.2 C T 11: 121,008,317 (GRCm39) V44I probably benign Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Tpd52 G T 3: 9,012,579 (GRCm39) N59K probably damaging Het
Trpc3 G A 3: 36,692,695 (GRCm39) P766S possibly damaging Het
Usp17la T A 7: 104,510,331 (GRCm39) V312D probably damaging Het
Xirp2 A G 2: 67,345,582 (GRCm39) N2608D possibly damaging Het
Zfp764l1 T A 7: 126,991,081 (GRCm39) H302L probably damaging Het
Zscan25 C A 5: 145,227,858 (GRCm39) H507Q 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
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
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'- AGAACATGGGCAGTCACAGC -3'
(R):5'- AGTATTCAAACACAGTCTCCTTCGG -3'

Sequencing Primer
(F):5'- ATGGGCAGTCACAGCATCTCAG -3'
(R):5'- AAACACAGTCTCCTTCGGGTTTC -3'
Posted On 2014-06-23