Incidental Mutation 'R4592:Cenpf'
ID 342875
Institutional Source Beutler Lab
Gene Symbol Cenpf
Ensembl Gene ENSMUSG00000026605
Gene Name centromere protein F
Synonyms 6530404A22Rik, mitosin, Lek1
MMRRC Submission 041808-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R4592 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189372803-189420283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 189411230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 318 (T318M)
Ref Sequence ENSEMBL: ENSMUSP00000129738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165663] [ENSMUST00000165962] [ENSMUST00000171929]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000165663
SMART Domains Protein: ENSMUSP00000130308
Gene: ENSMUSG00000026605

DomainStartEndE-ValueType
Pfam:CENP-F_N 1 65 8.7e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165962
AA Change: T301M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605
AA Change: T301M

DomainStartEndE-ValueType
Pfam:CENP-F_N 1 300 7.3e-135 PFAM
low complexity region 332 347 N/A INTRINSIC
low complexity region 361 379 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
low complexity region 572 592 N/A INTRINSIC
internal_repeat_1 737 759 3.18e-5 PROSPERO
internal_repeat_1 751 773 3.18e-5 PROSPERO
internal_repeat_2 789 804 5.94e-5 PROSPERO
coiled coil region 812 864 N/A INTRINSIC
coiled coil region 885 923 N/A INTRINSIC
low complexity region 925 936 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171929
AA Change: T318M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: T318M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,164 (GRCm39) V161E possibly damaging Het
Arhgap40 T C 2: 158,388,629 (GRCm39) V521A possibly damaging Het
Atrn T C 2: 130,841,050 (GRCm39) probably benign Het
Casp12 T C 9: 5,352,923 (GRCm39) probably benign Het
Cfap119 C T 7: 127,184,663 (GRCm39) R172H probably benign Het
Clcn2 T C 16: 20,527,892 (GRCm39) K525E probably damaging Het
Cntln A G 4: 84,889,419 (GRCm39) T301A probably benign Het
Crat T C 2: 30,305,378 (GRCm39) probably benign Het
Cul5 A G 9: 53,545,027 (GRCm39) probably benign Het
Cxcl14 A T 13: 56,443,708 (GRCm39) I34N probably damaging Het
Cyp2b19 A G 7: 26,470,819 (GRCm39) I487V probably benign Het
Cyp4a10 T A 4: 115,386,690 (GRCm39) F446I probably damaging Het
D430041D05Rik T A 2: 104,063,824 (GRCm39) M659L possibly damaging Het
Dclk3 T C 9: 111,296,963 (GRCm39) F169S probably damaging Het
Ddx52 T C 11: 83,848,306 (GRCm39) I532T probably damaging Het
Dnm1 T C 2: 32,226,023 (GRCm39) D352G probably damaging Het
Eif4g2 T C 7: 110,677,509 (GRCm39) E174G probably damaging Het
Enpp6 G T 8: 47,546,067 (GRCm39) V386L probably damaging Het
Entr1 C A 2: 26,278,909 (GRCm39) probably benign Het
Eps15l1 T C 8: 73,095,238 (GRCm39) D904G probably damaging Het
Esrrb A G 12: 86,565,604 (GRCm39) Y356C probably damaging Het
Flt3 A T 5: 147,291,509 (GRCm39) S619T possibly damaging Het
Fndc7 A T 3: 108,766,218 (GRCm39) C716S probably damaging Het
Gm26996 T A 6: 130,556,448 (GRCm39) noncoding transcript Het
Grik2 A T 10: 49,298,711 (GRCm39) F50I possibly damaging Het
Guf1 T C 5: 69,723,786 (GRCm39) V367A possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ifnar2 T C 16: 91,188,684 (GRCm39) V55A probably benign Het
Impg1 T A 9: 80,322,907 (GRCm39) I33F probably benign Het
Ltbp4 A C 7: 27,024,608 (GRCm39) V674G probably damaging Het
Mroh2b T A 15: 4,947,772 (GRCm39) L529H probably damaging Het
Negr1 T C 3: 156,914,023 (GRCm39) probably benign Het
Neurog3 A G 10: 61,969,599 (GRCm39) T25A probably damaging Het
Or10v1 T C 19: 11,874,126 (GRCm39) V247A probably benign Het
Or4a69 T A 2: 89,313,100 (GRCm39) K126N probably damaging Het
Or51h1 A C 7: 102,308,685 (GRCm39) Y219S probably damaging Het
Or5k17 T C 16: 58,746,455 (GRCm39) T160A probably benign Het
Pax8 T A 2: 24,333,201 (GRCm39) probably benign Het
Pcsk6 A C 7: 65,581,480 (GRCm39) I254L possibly damaging Het
Pde3a A G 6: 141,404,942 (GRCm39) K389R probably benign Het
Rab3gap1 C A 1: 127,852,996 (GRCm39) probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Rptor A G 11: 119,689,666 (GRCm39) D321G probably null Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Skp1 T C 11: 52,134,446 (GRCm39) I59T possibly damaging Het
Slc23a3 T G 1: 75,105,200 (GRCm39) N456T probably damaging Het
Slc4a7 G A 14: 14,778,850 (GRCm38) G920S probably damaging Het
Smarcd3 T C 5: 24,797,802 (GRCm39) I467V probably benign Het
Spata31d1c C T 13: 65,183,874 (GRCm39) A472V probably damaging Het
Spmap1 A G 11: 97,662,441 (GRCm39) S144P probably damaging Het
Srsf6 T C 2: 162,773,643 (GRCm39) I18T probably damaging Het
Stom C T 2: 35,213,758 (GRCm39) G80D probably damaging Het
Svep1 A T 4: 58,084,028 (GRCm39) Y1915N possibly damaging Het
Tmf1 C T 6: 97,150,361 (GRCm39) V449I probably benign Het
Triobp C T 15: 78,851,295 (GRCm39) A483V probably benign Het
Vdac1 G A 11: 52,265,799 (GRCm39) probably null Het
Vmn2r75 T G 7: 85,815,494 (GRCm39) E123D probably benign Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Zdbf2 T G 1: 63,345,750 (GRCm39) N1376K possibly damaging Het
Zeb1os1 T C 18: 5,525,375 (GRCm39) noncoding transcript Het
Other mutations in Cenpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Cenpf APN 1 189,387,109 (GRCm39) missense probably benign 0.01
IGL01154:Cenpf APN 1 189,412,530 (GRCm39) missense probably benign 0.19
IGL01434:Cenpf APN 1 189,390,065 (GRCm39) nonsense probably null
IGL01461:Cenpf APN 1 189,389,293 (GRCm39) missense probably damaging 1.00
IGL01615:Cenpf APN 1 189,385,381 (GRCm39) missense possibly damaging 0.68
IGL01720:Cenpf APN 1 189,383,412 (GRCm39) missense probably damaging 0.99
IGL01720:Cenpf APN 1 189,414,583 (GRCm39) missense probably benign 0.05
IGL01803:Cenpf APN 1 189,386,968 (GRCm39) nonsense probably null
IGL02152:Cenpf APN 1 189,381,209 (GRCm39) missense probably benign
IGL02222:Cenpf APN 1 189,386,641 (GRCm39) missense probably benign
IGL02338:Cenpf APN 1 189,412,615 (GRCm39) missense probably damaging 1.00
IGL02580:Cenpf APN 1 189,389,638 (GRCm39) missense probably benign 0.20
IGL02629:Cenpf APN 1 189,384,531 (GRCm39) missense probably damaging 1.00
IGL02650:Cenpf APN 1 189,384,670 (GRCm39) missense possibly damaging 0.91
IGL02660:Cenpf APN 1 189,386,979 (GRCm39) missense probably damaging 1.00
IGL02703:Cenpf APN 1 189,391,955 (GRCm39) missense probably benign 0.14
IGL02809:Cenpf APN 1 189,414,555 (GRCm39) splice site probably benign
IGL02851:Cenpf APN 1 189,390,227 (GRCm39) missense probably damaging 1.00
IGL02903:Cenpf APN 1 189,379,073 (GRCm39) missense probably damaging 0.99
IGL03126:Cenpf APN 1 189,391,207 (GRCm39) missense probably damaging 1.00
IGL03235:Cenpf APN 1 189,416,124 (GRCm39) missense probably damaging 1.00
IGL03336:Cenpf APN 1 189,384,844 (GRCm39) missense probably damaging 0.99
IGL03402:Cenpf APN 1 189,387,273 (GRCm39) missense probably damaging 1.00
IGL02799:Cenpf UTSW 1 189,391,849 (GRCm39) missense probably damaging 1.00
R0011:Cenpf UTSW 1 189,382,903 (GRCm39) missense probably benign 0.05
R0129:Cenpf UTSW 1 189,391,847 (GRCm39) missense probably benign 0.26
R0157:Cenpf UTSW 1 189,384,556 (GRCm39) missense probably benign 0.07
R0270:Cenpf UTSW 1 189,382,911 (GRCm39) missense probably benign 0.01
R0607:Cenpf UTSW 1 189,414,660 (GRCm39) splice site probably null
R0621:Cenpf UTSW 1 189,404,825 (GRCm39) missense probably benign
R0639:Cenpf UTSW 1 189,390,259 (GRCm39) missense probably benign 0.01
R0653:Cenpf UTSW 1 189,392,183 (GRCm39) missense probably damaging 1.00
R0718:Cenpf UTSW 1 189,386,181 (GRCm39) missense probably damaging 1.00
R1157:Cenpf UTSW 1 189,390,650 (GRCm39) missense probably benign 0.20
R1331:Cenpf UTSW 1 189,374,998 (GRCm39) missense probably damaging 0.99
R1463:Cenpf UTSW 1 189,386,936 (GRCm39) missense probably damaging 0.97
R1514:Cenpf UTSW 1 189,411,338 (GRCm39) missense possibly damaging 0.67
R1529:Cenpf UTSW 1 189,392,235 (GRCm39) missense probably benign 0.00
R1574:Cenpf UTSW 1 189,384,910 (GRCm39) missense probably damaging 1.00
R1574:Cenpf UTSW 1 189,384,910 (GRCm39) missense probably damaging 1.00
R1662:Cenpf UTSW 1 189,389,968 (GRCm39) missense probably damaging 0.99
R1671:Cenpf UTSW 1 189,411,341 (GRCm39) splice site probably null
R1725:Cenpf UTSW 1 189,412,676 (GRCm39) missense probably damaging 0.99
R1743:Cenpf UTSW 1 189,386,460 (GRCm39) missense probably benign 0.19
R1874:Cenpf UTSW 1 189,416,013 (GRCm39) missense probably damaging 1.00
R1884:Cenpf UTSW 1 189,379,046 (GRCm39) missense probably benign
R1980:Cenpf UTSW 1 189,386,112 (GRCm39) missense probably benign 0.04
R2074:Cenpf UTSW 1 189,389,098 (GRCm39) missense probably damaging 1.00
R2096:Cenpf UTSW 1 189,385,656 (GRCm39) missense possibly damaging 0.95
R2109:Cenpf UTSW 1 189,411,264 (GRCm39) missense probably damaging 0.99
R2113:Cenpf UTSW 1 189,411,299 (GRCm39) missense probably damaging 0.96
R2134:Cenpf UTSW 1 189,390,839 (GRCm39) missense probably benign 0.03
R2209:Cenpf UTSW 1 189,384,795 (GRCm39) missense probably benign 0.04
R2875:Cenpf UTSW 1 189,390,841 (GRCm39) missense probably benign 0.11
R2876:Cenpf UTSW 1 189,390,841 (GRCm39) missense probably benign 0.11
R3433:Cenpf UTSW 1 189,392,146 (GRCm39) missense probably damaging 0.99
R3709:Cenpf UTSW 1 189,381,009 (GRCm39) missense possibly damaging 0.72
R3786:Cenpf UTSW 1 189,390,534 (GRCm39) missense probably damaging 1.00
R4014:Cenpf UTSW 1 189,385,356 (GRCm39) missense probably benign 0.01
R4108:Cenpf UTSW 1 189,416,065 (GRCm39) missense probably damaging 1.00
R4119:Cenpf UTSW 1 189,385,242 (GRCm39) missense probably benign 0.01
R4177:Cenpf UTSW 1 189,400,816 (GRCm39) missense possibly damaging 0.95
R4422:Cenpf UTSW 1 189,390,547 (GRCm39) missense probably damaging 1.00
R4546:Cenpf UTSW 1 189,386,847 (GRCm39) missense probably damaging 1.00
R4643:Cenpf UTSW 1 189,391,786 (GRCm39) missense probably benign 0.00
R4650:Cenpf UTSW 1 189,392,235 (GRCm39) missense probably benign 0.00
R4801:Cenpf UTSW 1 189,383,417 (GRCm39) missense probably damaging 1.00
R4802:Cenpf UTSW 1 189,383,417 (GRCm39) missense probably damaging 1.00
R4817:Cenpf UTSW 1 189,414,566 (GRCm39) missense possibly damaging 0.93
R4871:Cenpf UTSW 1 189,390,728 (GRCm39) missense probably damaging 1.00
R5037:Cenpf UTSW 1 189,416,043 (GRCm39) missense probably damaging 1.00
R5106:Cenpf UTSW 1 189,416,005 (GRCm39) missense probably benign 0.00
R5208:Cenpf UTSW 1 189,403,243 (GRCm39) critical splice donor site probably null
R5213:Cenpf UTSW 1 189,387,177 (GRCm39) missense probably benign 0.04
R5237:Cenpf UTSW 1 189,391,730 (GRCm39) missense probably benign 0.28
R5255:Cenpf UTSW 1 189,404,824 (GRCm39) missense possibly damaging 0.49
R5378:Cenpf UTSW 1 189,385,663 (GRCm39) missense possibly damaging 0.95
R5468:Cenpf UTSW 1 189,384,568 (GRCm39) missense probably damaging 1.00
R5510:Cenpf UTSW 1 189,415,100 (GRCm39) missense probably benign 0.14
R5616:Cenpf UTSW 1 189,389,483 (GRCm39) missense probably damaging 1.00
R5652:Cenpf UTSW 1 189,389,279 (GRCm39) missense probably damaging 0.99
R5735:Cenpf UTSW 1 189,386,560 (GRCm39) missense probably benign 0.10
R5841:Cenpf UTSW 1 189,389,641 (GRCm39) missense possibly damaging 0.90
R5943:Cenpf UTSW 1 189,392,166 (GRCm39) missense possibly damaging 0.75
R6082:Cenpf UTSW 1 189,390,301 (GRCm39) missense probably benign 0.11
R6108:Cenpf UTSW 1 189,394,210 (GRCm39) missense probably benign 0.03
R6269:Cenpf UTSW 1 189,392,117 (GRCm39) missense probably benign 0.37
R6284:Cenpf UTSW 1 189,384,939 (GRCm39) missense probably damaging 1.00
R6425:Cenpf UTSW 1 189,392,095 (GRCm39) missense probably benign 0.09
R6587:Cenpf UTSW 1 189,390,571 (GRCm39) missense probably damaging 1.00
R6747:Cenpf UTSW 1 189,385,051 (GRCm39) missense probably benign 0.15
R6811:Cenpf UTSW 1 189,386,739 (GRCm39) missense probably benign 0.06
R6834:Cenpf UTSW 1 189,391,643 (GRCm39) missense probably damaging 1.00
R6951:Cenpf UTSW 1 189,385,989 (GRCm39) missense probably damaging 1.00
R7095:Cenpf UTSW 1 189,391,373 (GRCm39) missense probably benign 0.01
R7128:Cenpf UTSW 1 189,417,188 (GRCm39) missense probably damaging 1.00
R7185:Cenpf UTSW 1 189,385,686 (GRCm39) missense probably damaging 1.00
R7292:Cenpf UTSW 1 189,382,891 (GRCm39) missense probably damaging 1.00
R7353:Cenpf UTSW 1 189,386,335 (GRCm39) nonsense probably null
R7402:Cenpf UTSW 1 189,391,575 (GRCm39) nonsense probably null
R7460:Cenpf UTSW 1 189,386,247 (GRCm39) missense probably damaging 0.97
R7484:Cenpf UTSW 1 189,389,018 (GRCm39) missense probably damaging 1.00
R7574:Cenpf UTSW 1 189,390,864 (GRCm39) missense probably damaging 1.00
R7691:Cenpf UTSW 1 189,390,404 (GRCm39) nonsense probably null
R7698:Cenpf UTSW 1 189,394,269 (GRCm39) missense probably benign 0.01
R7901:Cenpf UTSW 1 189,389,445 (GRCm39) missense probably damaging 1.00
R7941:Cenpf UTSW 1 189,389,483 (GRCm39) missense probably damaging 1.00
R8007:Cenpf UTSW 1 189,379,144 (GRCm39) missense
R8194:Cenpf UTSW 1 189,414,600 (GRCm39) missense probably benign 0.06
R8420:Cenpf UTSW 1 189,404,782 (GRCm39) missense probably damaging 1.00
R8429:Cenpf UTSW 1 189,389,504 (GRCm39) missense possibly damaging 0.72
R8477:Cenpf UTSW 1 189,385,385 (GRCm39) missense probably benign
R8492:Cenpf UTSW 1 189,390,926 (GRCm39) missense probably damaging 0.99
R8510:Cenpf UTSW 1 189,382,903 (GRCm39) missense probably benign 0.01
R8686:Cenpf UTSW 1 189,391,801 (GRCm39) missense probably benign 0.00
R8696:Cenpf UTSW 1 189,390,194 (GRCm39) missense probably benign 0.20
R8855:Cenpf UTSW 1 189,385,430 (GRCm39) missense probably benign 0.11
R8901:Cenpf UTSW 1 189,394,248 (GRCm39) missense probably benign 0.30
R8958:Cenpf UTSW 1 189,385,350 (GRCm39) missense possibly damaging 0.81
R9109:Cenpf UTSW 1 189,391,571 (GRCm39) missense probably benign 0.06
R9135:Cenpf UTSW 1 189,404,746 (GRCm39) missense probably damaging 1.00
R9136:Cenpf UTSW 1 189,403,352 (GRCm39) missense probably benign 0.02
R9198:Cenpf UTSW 1 189,388,987 (GRCm39) missense probably damaging 1.00
R9240:Cenpf UTSW 1 189,389,167 (GRCm39) missense probably benign 0.01
R9303:Cenpf UTSW 1 189,392,271 (GRCm39) critical splice acceptor site probably null
R9305:Cenpf UTSW 1 189,392,271 (GRCm39) critical splice acceptor site probably null
R9354:Cenpf UTSW 1 189,379,114 (GRCm39) missense
R9502:Cenpf UTSW 1 189,388,978 (GRCm39) missense probably damaging 1.00
R9619:Cenpf UTSW 1 189,385,965 (GRCm39) missense probably benign 0.01
RF006:Cenpf UTSW 1 189,389,583 (GRCm39) missense probably damaging 1.00
X0025:Cenpf UTSW 1 189,386,071 (GRCm39) missense possibly damaging 0.79
X0066:Cenpf UTSW 1 189,390,126 (GRCm39) missense probably benign 0.23
Z1088:Cenpf UTSW 1 189,385,128 (GRCm39) missense probably damaging 1.00
Z1176:Cenpf UTSW 1 189,391,669 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTGCAAAGGCCTTTACTAAG -3'
(R):5'- TGCTGACTGCTCAAGTTACATTC -3'

Sequencing Primer
(F):5'- TGCAAAGGCCTTTACTAAGAATTAC -3'
(R):5'- GACTGCTCAAGTTACATTCAGTTAG -3'
Posted On 2015-09-24