Incidental Mutation 'R6747:Cenpf'
ID 530563
Institutional Source Beutler Lab
Gene Symbol Cenpf
Ensembl Gene ENSMUSG00000026605
Gene Name centromere protein F
Synonyms mitosin, 6530404A22Rik, Lek1
MMRRC Submission 044864-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 189640606-189688086 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 189652854 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 2410 (T2410S)
Ref Sequence ENSEMBL: ENSMUSP00000129738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171929]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000165798
SMART Domains Protein: ENSMUSP00000132430
Gene: ENSMUSG00000026605

DomainStartEndE-ValueType
Pfam:CENP-F_C_Rb_bdg 23 50 1.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171929
AA Change: T2410S

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: T2410S

DomainStartEndE-ValueType
Pfam:CENP-F_N 1 300 2.8e-144 PFAM
low complexity region 349 364 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 589 609 N/A INTRINSIC
internal_repeat_5 678 707 8.32e-5 PROSPERO
internal_repeat_3 743 798 2.21e-5 PROSPERO
internal_repeat_1 780 812 2.12e-7 PROSPERO
coiled coil region 829 881 N/A INTRINSIC
coiled coil region 902 1169 N/A INTRINSIC
coiled coil region 1206 1364 N/A INTRINSIC
internal_repeat_2 1381 1413 3.02e-6 PROSPERO
internal_repeat_3 1412 1470 2.21e-5 PROSPERO
low complexity region 1526 1542 N/A INTRINSIC
coiled coil region 1560 1650 N/A INTRINSIC
internal_repeat_2 1655 1687 3.02e-6 PROSPERO
low complexity region 1744 1755 N/A INTRINSIC
coiled coil region 1822 1852 N/A INTRINSIC
Pfam:CENP-F_leu_zip 1893 2035 1.2e-14 PFAM
Pfam:CENP-F_leu_zip 2131 2270 1.5e-47 PFAM
Pfam:CENP-F_leu_zip 2313 2449 1e-46 PFAM
low complexity region 2544 2555 N/A INTRINSIC
low complexity region 2642 2654 N/A INTRINSIC
low complexity region 2755 2769 N/A INTRINSIC
internal_repeat_4 2778 2801 4.28e-5 PROSPERO
low complexity region 2837 2847 N/A INTRINSIC
Pfam:CENP-F_C_Rb_bdg 2850 2896 6.6e-29 PFAM
internal_repeat_1 2935 2964 2.12e-7 PROSPERO
internal_repeat_4 2946 2969 4.28e-5 PROSPERO
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 122,126,313 (GRCm38) probably null Het
Acyp1 C T 12: 85,278,905 (GRCm38) V107I probably null Het
Aftph T C 11: 20,726,144 (GRCm38) probably null Het
Agtpbp1 A T 13: 59,544,353 (GRCm38) probably null Het
Arhgap15 C A 2: 44,116,677 (GRCm38) P269T probably damaging Het
Arhgap30 T C 1: 171,407,729 (GRCm38) V557A probably damaging Het
Asb3 T A 11: 31,081,493 (GRCm38) M410K probably benign Het
B4galnt2 T C 11: 95,868,634 (GRCm38) probably null Het
Birc3 A G 9: 7,860,261 (GRCm38) probably null Het
Cav2 A T 6: 17,286,951 (GRCm38) N69Y probably damaging Het
Cc2d2b G A 19: 40,795,667 (GRCm38) C826Y probably benign Het
Chchd1 A G 14: 20,703,380 (GRCm38) D24G probably benign Het
Cmip G A 8: 117,436,879 (GRCm38) G450S probably benign Het
Col11a1 C T 3: 114,212,450 (GRCm38) Q534* probably null Het
Col3a1 G T 1: 45,338,622 (GRCm38) probably benign Het
Cox4i1 T C 8: 120,673,230 (GRCm38) I31T possibly damaging Het
Cstf3 G T 2: 104,646,767 (GRCm38) V168F probably damaging Het
Dapk1 T C 13: 60,725,340 (GRCm38) I352T probably benign Het
Ddx52 T C 11: 83,955,302 (GRCm38) V456A probably damaging Het
Dmxl2 A T 9: 54,416,088 (GRCm38) H1337Q probably damaging Het
Dnah7a T C 1: 53,636,062 (GRCm38) T369A probably benign Het
Dppa1 T A 11: 46,625,595 (GRCm38) I8F unknown Het
Ebf1 G T 11: 44,883,814 (GRCm38) V213F probably damaging Het
Foxb2 C A 19: 16,872,833 (GRCm38) E270* probably null Het
Gclc A T 9: 77,788,245 (GRCm38) R450W probably damaging Het
Gm13128 T C 4: 144,332,978 (GRCm38) W420R probably benign Het
Grin2d T C 7: 45,862,268 (GRCm38) E251G probably damaging Het
Hal A T 10: 93,500,677 (GRCm38) N423Y probably damaging Het
Krtap4-8 T A 11: 99,780,091 (GRCm38) I185F unknown Het
Lrp3 T A 7: 35,211,437 (GRCm38) Q61L probably benign Het
Met A C 6: 17,571,467 (GRCm38) Q1296H probably damaging Het
Mphosph9 T A 5: 124,297,699 (GRCm38) N557I possibly damaging Het
Mrpl46 C A 7: 78,782,981 (GRCm38) W16C probably benign Het
Myh13 G A 11: 67,350,419 (GRCm38) R874Q probably damaging Het
Nelfb G A 2: 25,203,381 (GRCm38) T453I probably benign Het
Nos2 A G 11: 78,952,954 (GRCm38) D909G probably damaging Het
Nr5a2 T C 1: 136,882,344 (GRCm38) E431G possibly damaging Het
Nsmce2 A G 15: 59,591,724 (GRCm38) D149G probably benign Het
Olfr203 T C 16: 59,303,641 (GRCm38) F164L probably benign Het
Olfr690 C T 7: 105,330,027 (GRCm38) R55H probably benign Het
Pcbp4 C A 9: 106,460,648 (GRCm38) probably null Het
Peg10 A G 6: 4,757,137 (GRCm38) probably benign Het
Pms2 C T 5: 143,925,419 (GRCm38) P154L probably benign Het
Pou6f2 A C 13: 18,129,187 (GRCm38) L112R probably benign Het
Prdm6 A T 18: 53,465,046 (GRCm38) probably benign Het
Prob1 G A 18: 35,655,154 (GRCm38) R12W probably damaging Het
Rif1 T A 2: 52,078,263 (GRCm38) probably null Het
Rpl9-ps6 A G 19: 32,466,143 (GRCm38) S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 (GRCm38) probably benign Homo
Sec23ip A G 7: 128,752,849 (GRCm38) silent Het
Slc38a9 T C 13: 112,690,180 (GRCm38) C151R probably benign Het
Slc39a8 T C 3: 135,849,180 (GRCm38) probably null Het
Slc6a18 C A 13: 73,677,991 (GRCm38) probably benign Het
Snw1 T C 12: 87,464,710 (GRCm38) D57G probably damaging Het
Sox6 C G 7: 115,541,731 (GRCm38) R505P probably damaging Het
Speg T C 1: 75,410,395 (GRCm38) probably null Het
Spire2 C T 8: 123,356,846 (GRCm38) R190C probably damaging Het
Stard9 A C 2: 120,698,383 (GRCm38) H1707P possibly damaging Het
Tenm3 G T 8: 48,343,243 (GRCm38) T237K probably damaging Het
Themis2 T A 4: 132,796,262 (GRCm38) E31V possibly damaging Het
Trim56 T G 5: 137,114,521 (GRCm38) Q47P probably damaging Het
Trim58 T C 11: 58,651,264 (GRCm38) I350T probably benign Het
Ttll7 C T 3: 146,944,056 (GRCm38) P639S probably benign Het
Ubxn6 A G 17: 56,070,650 (GRCm38) probably null Het
Vmn2r114 A T 17: 23,309,876 (GRCm38) F417L probably benign Het
Vmn2r29 T A 7: 7,231,422 (GRCm38) M822L probably benign Het
Vps9d1 T C 8: 123,254,007 (GRCm38) D27G probably damaging Het
Wdr3 C T 3: 100,138,724 (GRCm38) R931Q probably damaging Het
Whamm G A 7: 81,578,302 (GRCm38) probably null Het
Zcchc24 T C 14: 25,757,033 (GRCm38) H142R probably damaging Het
Zfp292 T C 4: 34,806,894 (GRCm38) K2050R probably damaging Het
Other mutations in Cenpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Cenpf APN 1 189,654,912 (GRCm38) missense probably benign 0.01
IGL01154:Cenpf APN 1 189,680,333 (GRCm38) missense probably benign 0.19
IGL01434:Cenpf APN 1 189,657,868 (GRCm38) nonsense probably null
IGL01461:Cenpf APN 1 189,657,096 (GRCm38) missense probably damaging 1.00
IGL01615:Cenpf APN 1 189,653,184 (GRCm38) missense possibly damaging 0.68
IGL01720:Cenpf APN 1 189,651,215 (GRCm38) missense probably damaging 0.99
IGL01720:Cenpf APN 1 189,682,386 (GRCm38) missense probably benign 0.05
IGL01803:Cenpf APN 1 189,654,771 (GRCm38) nonsense probably null
IGL02152:Cenpf APN 1 189,649,012 (GRCm38) missense probably benign
IGL02222:Cenpf APN 1 189,654,444 (GRCm38) missense probably benign
IGL02338:Cenpf APN 1 189,680,418 (GRCm38) missense probably damaging 1.00
IGL02580:Cenpf APN 1 189,657,441 (GRCm38) missense probably benign 0.20
IGL02629:Cenpf APN 1 189,652,334 (GRCm38) missense probably damaging 1.00
IGL02650:Cenpf APN 1 189,652,473 (GRCm38) missense possibly damaging 0.91
IGL02660:Cenpf APN 1 189,654,782 (GRCm38) missense probably damaging 1.00
IGL02703:Cenpf APN 1 189,659,758 (GRCm38) missense probably benign 0.14
IGL02809:Cenpf APN 1 189,682,358 (GRCm38) splice site probably benign
IGL02851:Cenpf APN 1 189,658,030 (GRCm38) missense probably damaging 1.00
IGL02903:Cenpf APN 1 189,646,876 (GRCm38) missense probably damaging 0.99
IGL03126:Cenpf APN 1 189,659,010 (GRCm38) missense probably damaging 1.00
IGL03235:Cenpf APN 1 189,683,927 (GRCm38) missense probably damaging 1.00
IGL03336:Cenpf APN 1 189,652,647 (GRCm38) missense probably damaging 0.99
IGL03402:Cenpf APN 1 189,655,076 (GRCm38) missense probably damaging 1.00
IGL02799:Cenpf UTSW 1 189,659,652 (GRCm38) missense probably damaging 1.00
R0011:Cenpf UTSW 1 189,650,706 (GRCm38) missense probably benign 0.05
R0129:Cenpf UTSW 1 189,659,650 (GRCm38) missense probably benign 0.26
R0157:Cenpf UTSW 1 189,652,359 (GRCm38) missense probably benign 0.07
R0270:Cenpf UTSW 1 189,650,714 (GRCm38) missense probably benign 0.01
R0607:Cenpf UTSW 1 189,682,463 (GRCm38) splice site probably null
R0621:Cenpf UTSW 1 189,672,628 (GRCm38) missense probably benign
R0639:Cenpf UTSW 1 189,658,062 (GRCm38) missense probably benign 0.01
R0653:Cenpf UTSW 1 189,659,986 (GRCm38) missense probably damaging 1.00
R0718:Cenpf UTSW 1 189,653,984 (GRCm38) missense probably damaging 1.00
R1157:Cenpf UTSW 1 189,658,453 (GRCm38) missense probably benign 0.20
R1331:Cenpf UTSW 1 189,642,801 (GRCm38) missense probably damaging 0.99
R1463:Cenpf UTSW 1 189,654,739 (GRCm38) missense probably damaging 0.97
R1514:Cenpf UTSW 1 189,679,141 (GRCm38) missense possibly damaging 0.67
R1529:Cenpf UTSW 1 189,660,038 (GRCm38) missense probably benign 0.00
R1574:Cenpf UTSW 1 189,652,713 (GRCm38) missense probably damaging 1.00
R1574:Cenpf UTSW 1 189,652,713 (GRCm38) missense probably damaging 1.00
R1662:Cenpf UTSW 1 189,657,771 (GRCm38) missense probably damaging 0.99
R1671:Cenpf UTSW 1 189,679,144 (GRCm38) splice site probably null
R1725:Cenpf UTSW 1 189,680,479 (GRCm38) missense probably damaging 0.99
R1743:Cenpf UTSW 1 189,654,263 (GRCm38) missense probably benign 0.19
R1874:Cenpf UTSW 1 189,683,816 (GRCm38) missense probably damaging 1.00
R1884:Cenpf UTSW 1 189,646,849 (GRCm38) missense probably benign
R1980:Cenpf UTSW 1 189,653,915 (GRCm38) missense probably benign 0.04
R2074:Cenpf UTSW 1 189,656,901 (GRCm38) missense probably damaging 1.00
R2096:Cenpf UTSW 1 189,653,459 (GRCm38) missense possibly damaging 0.95
R2109:Cenpf UTSW 1 189,679,067 (GRCm38) missense probably damaging 0.99
R2113:Cenpf UTSW 1 189,679,102 (GRCm38) missense probably damaging 0.96
R2134:Cenpf UTSW 1 189,658,642 (GRCm38) missense probably benign 0.03
R2209:Cenpf UTSW 1 189,652,598 (GRCm38) missense probably benign 0.04
R2875:Cenpf UTSW 1 189,658,644 (GRCm38) missense probably benign 0.11
R2876:Cenpf UTSW 1 189,658,644 (GRCm38) missense probably benign 0.11
R3433:Cenpf UTSW 1 189,659,949 (GRCm38) missense probably damaging 0.99
R3709:Cenpf UTSW 1 189,648,812 (GRCm38) missense possibly damaging 0.72
R3786:Cenpf UTSW 1 189,658,337 (GRCm38) missense probably damaging 1.00
R4014:Cenpf UTSW 1 189,653,159 (GRCm38) missense probably benign 0.01
R4108:Cenpf UTSW 1 189,683,868 (GRCm38) missense probably damaging 1.00
R4119:Cenpf UTSW 1 189,653,045 (GRCm38) missense probably benign 0.01
R4177:Cenpf UTSW 1 189,668,619 (GRCm38) missense possibly damaging 0.95
R4422:Cenpf UTSW 1 189,658,350 (GRCm38) missense probably damaging 1.00
R4546:Cenpf UTSW 1 189,654,650 (GRCm38) missense probably damaging 1.00
R4592:Cenpf UTSW 1 189,679,033 (GRCm38) missense probably damaging 1.00
R4643:Cenpf UTSW 1 189,659,589 (GRCm38) missense probably benign 0.00
R4650:Cenpf UTSW 1 189,660,038 (GRCm38) missense probably benign 0.00
R4801:Cenpf UTSW 1 189,651,220 (GRCm38) missense probably damaging 1.00
R4802:Cenpf UTSW 1 189,651,220 (GRCm38) missense probably damaging 1.00
R4817:Cenpf UTSW 1 189,682,369 (GRCm38) missense possibly damaging 0.93
R4871:Cenpf UTSW 1 189,658,531 (GRCm38) missense probably damaging 1.00
R5037:Cenpf UTSW 1 189,683,846 (GRCm38) missense probably damaging 1.00
R5106:Cenpf UTSW 1 189,683,808 (GRCm38) missense probably benign 0.00
R5208:Cenpf UTSW 1 189,671,046 (GRCm38) critical splice donor site probably null
R5213:Cenpf UTSW 1 189,654,980 (GRCm38) missense probably benign 0.04
R5237:Cenpf UTSW 1 189,659,533 (GRCm38) missense probably benign 0.28
R5255:Cenpf UTSW 1 189,672,627 (GRCm38) missense possibly damaging 0.49
R5378:Cenpf UTSW 1 189,653,466 (GRCm38) missense possibly damaging 0.95
R5468:Cenpf UTSW 1 189,652,371 (GRCm38) missense probably damaging 1.00
R5510:Cenpf UTSW 1 189,682,903 (GRCm38) missense probably benign 0.14
R5616:Cenpf UTSW 1 189,657,286 (GRCm38) missense probably damaging 1.00
R5652:Cenpf UTSW 1 189,657,082 (GRCm38) missense probably damaging 0.99
R5735:Cenpf UTSW 1 189,654,363 (GRCm38) missense probably benign 0.10
R5841:Cenpf UTSW 1 189,657,444 (GRCm38) missense possibly damaging 0.90
R5943:Cenpf UTSW 1 189,659,969 (GRCm38) missense possibly damaging 0.75
R6082:Cenpf UTSW 1 189,658,104 (GRCm38) missense probably benign 0.11
R6108:Cenpf UTSW 1 189,662,013 (GRCm38) missense probably benign 0.03
R6269:Cenpf UTSW 1 189,659,920 (GRCm38) missense probably benign 0.37
R6284:Cenpf UTSW 1 189,652,742 (GRCm38) missense probably damaging 1.00
R6425:Cenpf UTSW 1 189,659,898 (GRCm38) missense probably benign 0.09
R6587:Cenpf UTSW 1 189,658,374 (GRCm38) missense probably damaging 1.00
R6811:Cenpf UTSW 1 189,654,542 (GRCm38) missense probably benign 0.06
R6834:Cenpf UTSW 1 189,659,446 (GRCm38) missense probably damaging 1.00
R6951:Cenpf UTSW 1 189,653,792 (GRCm38) missense probably damaging 1.00
R7095:Cenpf UTSW 1 189,659,176 (GRCm38) missense probably benign 0.01
R7128:Cenpf UTSW 1 189,684,991 (GRCm38) missense probably damaging 1.00
R7185:Cenpf UTSW 1 189,653,489 (GRCm38) missense probably damaging 1.00
R7292:Cenpf UTSW 1 189,650,694 (GRCm38) missense probably damaging 1.00
R7353:Cenpf UTSW 1 189,654,138 (GRCm38) nonsense probably null
R7402:Cenpf UTSW 1 189,659,378 (GRCm38) nonsense probably null
R7460:Cenpf UTSW 1 189,654,050 (GRCm38) missense probably damaging 0.97
R7484:Cenpf UTSW 1 189,656,821 (GRCm38) missense probably damaging 1.00
R7574:Cenpf UTSW 1 189,658,667 (GRCm38) missense probably damaging 1.00
R7691:Cenpf UTSW 1 189,658,207 (GRCm38) nonsense probably null
R7698:Cenpf UTSW 1 189,662,072 (GRCm38) missense probably benign 0.01
R7901:Cenpf UTSW 1 189,657,248 (GRCm38) missense probably damaging 1.00
R7941:Cenpf UTSW 1 189,657,286 (GRCm38) missense probably damaging 1.00
R8007:Cenpf UTSW 1 189,646,947 (GRCm38) missense
R8194:Cenpf UTSW 1 189,682,403 (GRCm38) missense probably benign 0.06
R8420:Cenpf UTSW 1 189,672,585 (GRCm38) missense probably damaging 1.00
R8429:Cenpf UTSW 1 189,657,307 (GRCm38) missense possibly damaging 0.72
R8477:Cenpf UTSW 1 189,653,188 (GRCm38) missense probably benign
R8492:Cenpf UTSW 1 189,658,729 (GRCm38) missense probably damaging 0.99
R8510:Cenpf UTSW 1 189,650,706 (GRCm38) missense probably benign 0.01
R8686:Cenpf UTSW 1 189,659,604 (GRCm38) missense probably benign 0.00
R8696:Cenpf UTSW 1 189,657,997 (GRCm38) missense probably benign 0.20
R8855:Cenpf UTSW 1 189,653,233 (GRCm38) missense probably benign 0.11
R8901:Cenpf UTSW 1 189,662,051 (GRCm38) missense probably benign 0.30
R8958:Cenpf UTSW 1 189,653,153 (GRCm38) missense possibly damaging 0.81
R9109:Cenpf UTSW 1 189,659,374 (GRCm38) missense probably benign 0.06
R9135:Cenpf UTSW 1 189,672,549 (GRCm38) missense probably damaging 1.00
R9136:Cenpf UTSW 1 189,671,155 (GRCm38) missense probably benign 0.02
R9198:Cenpf UTSW 1 189,656,790 (GRCm38) missense probably damaging 1.00
R9240:Cenpf UTSW 1 189,656,970 (GRCm38) missense probably benign 0.01
R9303:Cenpf UTSW 1 189,660,074 (GRCm38) critical splice acceptor site probably null
R9305:Cenpf UTSW 1 189,660,074 (GRCm38) critical splice acceptor site probably null
R9354:Cenpf UTSW 1 189,646,917 (GRCm38) missense
R9502:Cenpf UTSW 1 189,656,781 (GRCm38) missense probably damaging 1.00
R9619:Cenpf UTSW 1 189,653,768 (GRCm38) missense probably benign 0.01
RF006:Cenpf UTSW 1 189,657,386 (GRCm38) missense probably damaging 1.00
X0025:Cenpf UTSW 1 189,653,874 (GRCm38) missense possibly damaging 0.79
X0066:Cenpf UTSW 1 189,657,929 (GRCm38) missense probably benign 0.23
Z1088:Cenpf UTSW 1 189,652,931 (GRCm38) missense probably damaging 1.00
Z1176:Cenpf UTSW 1 189,659,472 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTACCCAGATTCTGTTCTTTGG -3'
(R):5'- ACCGAGTTGAGAACCTTGAAC -3'

Sequencing Primer
(F):5'- CCAGATTCTGTTCTTTGGTCTTAGAG -3'
(R):5'- AGTTGAGAACCTTGAACAAGAATTG -3'
Posted On 2018-08-01