Incidental Mutation 'R5106:Cenpf'
ID 392608
Institutional Source Beutler Lab
Gene Symbol Cenpf
Ensembl Gene ENSMUSG00000026605
Gene Name centromere protein F
Synonyms 6530404A22Rik, mitosin, Lek1
MMRRC Submission 042694-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # R5106 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189372803-189420283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 189416005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 107 (C107S)
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 benign
Transcript: ENSMUST00000165962
AA Change: C107S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605
AA Change: C107S

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 benign
Transcript: ENSMUST00000171929
AA Change: C107S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: C107S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194165
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf2 G A 11: 43,376,880 (GRCm39) R84Q possibly damaging Het
Carmil2 T A 8: 106,420,638 (GRCm39) probably null Het
Cideb T C 14: 55,991,982 (GRCm39) M191V probably benign Het
Cope C A 8: 70,763,097 (GRCm39) R213S possibly damaging Het
Ctcf T C 8: 106,408,130 (GRCm39) probably benign Het
Daam2 T C 17: 49,783,489 (GRCm39) Y647C probably damaging Het
Dlg2 T C 7: 92,091,894 (GRCm39) Y920H probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fdps C A 3: 89,006,710 (GRCm39) R127L probably damaging Het
G6pd2 C T 5: 61,967,695 (GRCm39) T490I probably benign Het
Gm6401 A G 14: 41,787,463 (GRCm39) M121T probably damaging Het
Gnl2 T C 4: 124,947,329 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l A G 17: 89,002,073 (GRCm39) S310G possibly damaging Het
Igdcc4 T C 9: 65,031,983 (GRCm39) F500L probably damaging Het
Lgr4 A T 2: 109,827,940 (GRCm39) H207L probably damaging Het
Llcfc1 A G 6: 41,662,310 (GRCm39) M105V probably benign Het
Macroh2a1 A G 13: 56,236,106 (GRCm39) V213A possibly damaging Het
Map2k3 A G 11: 60,832,708 (GRCm39) K18E probably damaging Het
Mccc1 T A 3: 36,026,713 (GRCm39) D528V probably benign Het
Nedd4l C T 18: 65,326,376 (GRCm39) T568M probably damaging Het
Nr3c1 A C 18: 39,619,654 (GRCm39) I211S possibly damaging Het
Nudt5 C T 2: 5,859,640 (GRCm39) probably benign Het
Or2ag20 T A 7: 106,464,595 (GRCm39) M136K probably damaging Het
Or5d46 T C 2: 88,170,454 (GRCm39) Y182H probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or9k2b A T 10: 130,016,177 (GRCm39) S191T probably benign Het
Pcid2 A T 8: 13,129,648 (GRCm39) F326I probably damaging Het
Pcnt A T 10: 76,237,278 (GRCm39) I1336N probably damaging Het
Pomk T C 8: 26,476,404 (GRCm39) D50G probably benign Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Ptprz1 A G 6: 23,000,027 (GRCm39) T706A probably benign Het
Rad54l G A 4: 115,956,961 (GRCm39) probably benign Het
Raph1 T C 1: 60,572,459 (GRCm39) D36G probably damaging Het
Rgs7 A G 1: 174,904,416 (GRCm39) S166P possibly damaging Het
Rnf183 C G 4: 62,346,465 (GRCm39) R111P probably damaging Het
Rp1l1 A T 14: 64,265,395 (GRCm39) D327V probably damaging Het
Rpl3l A G 17: 24,951,411 (GRCm39) Y156C probably damaging Het
Slc25a54 G T 3: 109,020,180 (GRCm39) C398F probably benign Het
Slc39a2 A G 14: 52,132,988 (GRCm39) *310W probably null Het
Slit3 T C 11: 35,503,194 (GRCm39) C464R probably damaging Het
Smu1 A T 4: 40,743,104 (GRCm39) F345I possibly damaging Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stxbp3 T C 3: 108,702,243 (GRCm39) Y521C probably benign Het
Tenm4 T C 7: 96,492,356 (GRCm39) S1061P probably damaging Het
Thoc5 T C 11: 4,860,630 (GRCm39) S103P probably damaging Het
Tmem221 A G 8: 72,008,522 (GRCm39) F173L probably benign Het
Trit1 T C 4: 122,948,106 (GRCm39) probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r106 T C 17: 20,499,395 (GRCm39) probably null Het
Vmn2r38 C A 7: 9,078,169 (GRCm39) V738L possibly damaging Het
Zfp160 T A 17: 21,247,023 (GRCm39) H524Q probably damaging Het
Zfp791 T A 8: 85,837,259 (GRCm39) K202* probably null Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R probably damaging Het
Zkscan7 T C 9: 122,725,198 (GRCm39) probably benign Het
Zwilch A C 9: 64,060,866 (GRCm39) F329V probably damaging 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
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
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'- TTGGTCTTTCTGCAGGCAC -3'
(R):5'- AGAGCCAGGCTTATATGTGATAC -3'

Sequencing Primer
(F):5'- GGCACTGTACACTGAGACCCTTAG -3'
(R):5'- GTGATACTTGGTAAGTACATGACTG -3'
Posted On 2016-06-15