Incidental Mutation 'R0653:Cenpf'
ID 62356
Institutional Source Beutler Lab
Gene Symbol Cenpf
Ensembl Gene ENSMUSG00000026605
Gene Name centromere protein F
Synonyms 6530404A22Rik, mitosin, Lek1
MMRRC Submission 038838-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # R0653 (G1)
Quality Score 83
Status Not validated
Chromosome 1
Chromosomal Location 189372803-189420283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 189392183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 550 (K550E)
Ref Sequence ENSEMBL: ENSMUSP00000129738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165962] [ENSMUST00000171929]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000165962
AA Change: K533E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605
AA Change: K533E

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: K550E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: K550E

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Akr1c18 A T 13: 4,195,307 (GRCm39) D50E probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Gtf3c5 A T 2: 28,468,008 (GRCm39) M151K probably benign Het
Hgs G A 11: 120,359,904 (GRCm39) R36H probably damaging Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Spag16 G T 1: 69,909,504 (GRCm39) K200N probably damaging Het
Supt6 G T 11: 78,116,841 (GRCm39) Q604K probably benign Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G probably benign 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
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
R4592:Cenpf UTSW 1 189,411,230 (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'- CCTTCTGATGCTTTTGGTCCGAGGA -3'
(R):5'- TGTCAAGTTTTACAGGATGTGACAGCC -3'

Sequencing Primer
(F):5'- TTCTCTCATTAGAGTCAGGACTTAC -3'
(R):5'- CAGGATGTGACAGCCtattaatttc -3'
Posted On 2013-07-30