Incidental Mutation 'IGL02799:Cenpf'
ID 392250
Institutional Source Beutler Lab
Gene Symbol Cenpf
Ensembl Gene ENSMUSG00000026605
Gene Name centromere protein F
Synonyms 6530404A22Rik, mitosin, Lek1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # IGL02799 (G1)
Quality Score 212
Status Validated
Chromosome 1
Chromosomal Location 189372803-189420283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 189391849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 661 (E661G)
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: E644G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605
AA Change: E644G

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: E661G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: E661G

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 0.1898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G 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
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
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'- CCAGTGAGCTTATTTGCTTTCAAG -3'
(R):5'- AGTTTGAAACTTTGCTGAGTGC -3'

Sequencing Primer
(F):5'- AAGCACATATTCTCTATCTCCTTCTG -3'
(R):5'- AAACTTTGCTGAGTGCTTTGG -3'
Posted On 2016-06-09