Incidental Mutation 'R0624:Cenpe'
ID 58783
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 038813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0624 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 134918324-134979301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134952347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1403 (T1403A)
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: T1403A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057938
Gene: ENSMUSG00000045328
AA Change: T1403A

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
AA Change: T175A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143435
Gene: ENSMUSG00000045328
AA Change: T175A

DomainStartEndE-ValueType
coiled coil region 2 49 N/A INTRINSIC
coiled coil region 85 172 N/A INTRINSIC
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (88/90)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,446 (GRCm39) D767V probably damaging Het
Add1 T A 5: 34,763,197 (GRCm39) N128K probably damaging Het
Ado A T 10: 67,384,058 (GRCm39) D182E probably benign Het
Anapc4 T A 5: 53,002,761 (GRCm39) probably benign Het
Ano10 A G 9: 122,088,661 (GRCm39) probably benign Het
Apba2 A G 7: 64,364,263 (GRCm39) probably null Het
Apc2 A G 10: 80,150,417 (GRCm39) T1795A probably benign Het
Atp4a A G 7: 30,418,424 (GRCm39) N571D probably benign Het
Birc6 A G 17: 74,887,344 (GRCm39) N891D probably benign Het
Bltp2 G A 11: 78,159,283 (GRCm39) E494K probably damaging Het
Car3 G T 3: 14,931,864 (GRCm39) M78I probably benign Het
Cc2d2a A T 5: 43,887,371 (GRCm39) H1267L probably benign Het
Cdk18 A G 1: 132,046,610 (GRCm39) L192P probably damaging Het
Cdk9 A T 2: 32,599,836 (GRCm39) Y134N probably damaging Het
Ceacam5 A T 7: 17,448,888 (GRCm39) T85S probably benign Het
Chd8 C T 14: 52,457,214 (GRCm39) G918D possibly damaging Het
Csnk1e T A 15: 79,304,098 (GRCm39) probably benign Het
Dctpp1 A T 7: 126,856,365 (GRCm39) I119N probably damaging Het
Defb34 T A 8: 19,173,784 (GRCm39) F6Y unknown Het
Dnai4 T C 4: 102,930,054 (GRCm39) probably benign Het
Dvl1 C G 4: 155,939,232 (GRCm39) N248K probably damaging Het
Dync1h1 T C 12: 110,618,181 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,211,910 (GRCm39) D199G probably damaging Het
Eml5 T A 12: 98,831,738 (GRCm39) R407W probably damaging Het
Epb41l5 T C 1: 119,551,688 (GRCm39) D99G probably damaging Het
Fat1 A T 8: 45,504,205 (GRCm39) N4566I possibly damaging Het
Gm21834 T C 17: 58,049,015 (GRCm39) E67G possibly damaging Het
Gsap T A 5: 21,458,949 (GRCm39) probably null Het
Guf1 T C 5: 69,715,923 (GRCm39) I108T probably damaging Het
Hsd3b5 T C 3: 98,526,720 (GRCm39) D242G probably damaging Het
Kcna7 A G 7: 45,059,114 (GRCm39) D467G probably null Het
Lars1 A G 18: 42,375,849 (GRCm39) probably benign Het
Lrrc56 A T 7: 140,786,366 (GRCm39) D248V probably damaging Het
Map3k14 T A 11: 103,133,117 (GRCm39) E27V possibly damaging Het
Med12l G A 3: 58,945,123 (GRCm39) W116* probably null Het
Mgll A G 6: 88,702,799 (GRCm39) R33G probably damaging Het
Mmp13 A G 9: 7,280,221 (GRCm39) S384G possibly damaging Het
Nalcn C T 14: 123,607,444 (GRCm39) C675Y probably benign Het
Nrxn1 A G 17: 91,396,117 (GRCm39) L13P unknown Het
Ocstamp A G 2: 165,239,772 (GRCm39) V138A probably damaging Het
Or12e8 T G 2: 87,188,026 (GRCm39) Y79* probably null Het
Or2z8 T A 8: 72,812,006 (GRCm39) S161T possibly damaging Het
Or4a68 A G 2: 89,270,482 (GRCm39) V47A possibly damaging Het
Or4f7 T C 2: 111,645,056 (GRCm39) N5S probably damaging Het
Or5p51 A G 7: 107,444,323 (GRCm39) S206P possibly damaging Het
Or9i1b T G 19: 13,896,808 (GRCm39) C141W probably damaging Het
Patj T C 4: 98,569,472 (GRCm39) probably benign Het
Pcdhb22 A G 18: 37,651,780 (GRCm39) I83V probably benign Het
Pclo A G 5: 14,719,670 (GRCm39) E1269G unknown Het
Plagl2 T C 2: 153,077,973 (GRCm39) T3A probably benign Het
Plcb1 C T 2: 135,136,831 (GRCm39) P309S possibly damaging Het
Pld3 A T 7: 27,239,000 (GRCm39) L175Q possibly damaging Het
Prrx1 A G 1: 163,075,974 (GRCm39) probably benign Het
Psap T G 10: 60,135,345 (GRCm39) probably benign Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Reep2 A T 18: 34,973,824 (GRCm39) I6F probably benign Het
Rraga A G 4: 86,494,454 (GRCm39) E100G probably benign Het
Rrm2b T C 15: 37,931,889 (GRCm39) D37G probably benign Het
Rtl1 T C 12: 109,559,153 (GRCm39) I895M probably damaging Het
Ryr1 G A 7: 28,774,034 (GRCm39) A2445V probably damaging Het
Sbf1 C T 15: 89,186,532 (GRCm39) D898N possibly damaging Het
Sh3d19 G A 3: 86,022,213 (GRCm39) V548I possibly damaging Het
Shf C A 2: 122,199,116 (GRCm39) probably benign Het
Sipa1l3 T C 7: 29,086,676 (GRCm39) E638G probably damaging Het
Slc13a3 G T 2: 165,253,807 (GRCm39) P449T probably damaging Het
Slc2a13 C T 15: 91,234,215 (GRCm39) V374I possibly damaging Het
Slc4a7 T C 14: 14,794,059 (GRCm38) probably null Het
Slc7a2 T A 8: 41,361,568 (GRCm39) S414T probably benign Het
Slc9c1 A G 16: 45,393,719 (GRCm39) E554G probably benign Het
Smad2 T C 18: 76,433,064 (GRCm39) I332T probably damaging Het
Snrnp40 C T 4: 130,256,451 (GRCm39) P59S probably damaging Het
Sorcs2 A T 5: 36,222,777 (GRCm39) I154N probably damaging Het
Sort1 G A 3: 108,255,946 (GRCm39) G631S probably damaging Het
Sox10 T C 15: 79,043,586 (GRCm39) D149G possibly damaging Het
Spn C T 7: 126,735,380 (GRCm39) V376M possibly damaging Het
Tacc2 A G 7: 130,179,239 (GRCm39) D9G probably damaging Het
Tapt1 T G 5: 44,334,448 (GRCm39) L514F possibly damaging Het
Tcf3 A G 10: 80,249,168 (GRCm39) L480P probably damaging Het
Tenm4 G C 7: 96,423,227 (GRCm39) G637A probably damaging Het
Tex14 T A 11: 87,411,525 (GRCm39) N950K probably benign Het
Tgfbrap1 T G 1: 43,098,289 (GRCm39) H497P probably benign Het
Tnfrsf18 A T 4: 156,110,986 (GRCm39) Y48F possibly damaging Het
Tnxb A C 17: 34,902,522 (GRCm39) H1002P probably damaging Het
Ttn A G 2: 76,593,571 (GRCm39) probably benign Het
Ugt2b34 C G 5: 87,041,591 (GRCm39) probably null Het
Vldlr A G 19: 27,215,663 (GRCm39) D220G possibly damaging Het
Vmn1r33 A T 6: 66,589,121 (GRCm39) Y144* probably null Het
Xrcc4 T C 13: 90,140,594 (GRCm39) E205G 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
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
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'- GCAGTCACAGCATCTCAGAAGTCAC -3'
(R):5'- TTGTGTATTCAGCCGCAGCCTGTC -3'

Sequencing Primer
(F):5'- CACAGATAAAATAGTTTCCTCTTTGC -3'
(R):5'- TTCAAACACAGTCTCCTTCGGG -3'
Posted On 2013-07-11