Incidental Mutation 'R5506:Mki67'
ID 430924
Institutional Source Beutler Lab
Gene Symbol Mki67
Ensembl Gene ENSMUSG00000031004
Gene Name antigen identified by monoclonal antibody Ki 67
Synonyms D630048A14Rik, Ki-67, Ki67
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 135291513-135318090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135301710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1108 (K1108R)
Ref Sequence ENSEMBL: ENSMUSP00000033310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033310]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033310
AA Change: K1108R

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033310
Gene: ENSMUSG00000031004
AA Change: K1108R

DomainStartEndE-ValueType
FHA 26 76 1.03e-11 SMART
Pfam:PP1_bind 462 519 2.8e-20 PFAM
low complexity region 535 545 N/A INTRINSIC
low complexity region 869 882 N/A INTRINSIC
Pfam:K167R 889 982 1.5e-9 PFAM
K167R 993 1102 2.01e-39 SMART
K167R 1107 1217 1.87e-57 SMART
K167R 1228 1337 1.33e-53 SMART
K167R 1348 1451 6.57e-44 SMART
K167R 1462 1570 9.09e-38 SMART
K167R 1580 1686 5.02e-40 SMART
K167R 1697 1807 9.6e-37 SMART
K167R 1818 1926 5.94e-51 SMART
K167R 1937 2047 1.6e-56 SMART
K167R 2058 2164 4.04e-53 SMART
K167R 2175 2285 1.52e-57 SMART
K167R 2296 2407 1.78e-40 SMART
K167R 2418 2527 1.71e-42 SMART
K167R 2538 2640 7.41e-20 SMART
K167R 2642 2750 1.06e-38 SMART
K167R 2761 2872 2.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211238
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice carrying a reporter allele show expression in actively dividing cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Mki67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Mki67 APN 7 135,291,849 (GRCm39) missense probably benign 0.32
IGL00264:Mki67 APN 7 135,309,549 (GRCm39) nonsense probably null
IGL00328:Mki67 APN 7 135,298,424 (GRCm39) missense probably benign 0.03
IGL00570:Mki67 APN 7 135,309,830 (GRCm39) missense possibly damaging 0.88
IGL00584:Mki67 APN 7 135,297,424 (GRCm39) missense probably damaging 1.00
IGL00756:Mki67 APN 7 135,300,460 (GRCm39) missense possibly damaging 0.76
IGL01063:Mki67 APN 7 135,296,651 (GRCm39) missense possibly damaging 0.93
IGL01112:Mki67 APN 7 135,315,745 (GRCm39) missense probably damaging 1.00
IGL01360:Mki67 APN 7 135,307,505 (GRCm39) missense probably damaging 1.00
IGL01457:Mki67 APN 7 135,301,275 (GRCm39) missense probably benign 0.00
IGL01686:Mki67 APN 7 135,309,542 (GRCm39) missense probably benign 0.00
IGL01731:Mki67 APN 7 135,298,278 (GRCm39) missense probably benign 0.03
IGL01775:Mki67 APN 7 135,300,005 (GRCm39) missense possibly damaging 0.71
IGL01806:Mki67 APN 7 135,300,686 (GRCm39) missense probably damaging 0.98
IGL01860:Mki67 APN 7 135,300,686 (GRCm39) missense probably damaging 0.98
IGL01938:Mki67 APN 7 135,296,059 (GRCm39) missense probably benign 0.04
IGL02249:Mki67 APN 7 135,302,251 (GRCm39) missense possibly damaging 0.47
IGL02260:Mki67 APN 7 135,303,697 (GRCm39) missense probably benign 0.00
IGL02270:Mki67 APN 7 135,300,361 (GRCm39) missense probably damaging 1.00
IGL02406:Mki67 APN 7 135,300,522 (GRCm39) missense probably benign 0.00
IGL02499:Mki67 APN 7 135,296,056 (GRCm39) missense possibly damaging 0.94
IGL02655:Mki67 APN 7 135,315,748 (GRCm39) missense probably damaging 0.98
IGL02700:Mki67 APN 7 135,309,931 (GRCm39) missense probably benign 0.02
IGL03370:Mki67 APN 7 135,297,219 (GRCm39) missense probably benign 0.00
Advisement UTSW 7 135,299,923 (GRCm39) missense probably damaging 1.00
chocotoff UTSW 7 135,300,628 (GRCm39) missense possibly damaging 0.92
Godiva UTSW 7 135,303,691 (GRCm39) missense probably benign 0.10
sees UTSW 7 135,302,644 (GRCm39) missense possibly damaging 0.68
Whitman UTSW 7 135,315,594 (GRCm39) missense probably damaging 1.00
BB003:Mki67 UTSW 7 135,298,869 (GRCm39) missense possibly damaging 0.91
BB013:Mki67 UTSW 7 135,298,869 (GRCm39) missense possibly damaging 0.91
PIT4468001:Mki67 UTSW 7 135,300,876 (GRCm39) missense probably benign 0.00
R0001:Mki67 UTSW 7 135,302,748 (GRCm39) missense probably damaging 0.99
R0001:Mki67 UTSW 7 135,300,901 (GRCm39) missense probably damaging 1.00
R0043:Mki67 UTSW 7 135,302,310 (GRCm39) missense probably benign 0.16
R0043:Mki67 UTSW 7 135,302,310 (GRCm39) missense probably benign 0.16
R0102:Mki67 UTSW 7 135,315,532 (GRCm39) missense probably benign 0.16
R0130:Mki67 UTSW 7 135,298,188 (GRCm39) missense probably damaging 1.00
R0149:Mki67 UTSW 7 135,300,153 (GRCm39) missense probably benign 0.00
R0356:Mki67 UTSW 7 135,306,135 (GRCm39) missense probably benign 0.34
R0482:Mki67 UTSW 7 135,301,158 (GRCm39) missense possibly damaging 0.60
R0508:Mki67 UTSW 7 135,302,075 (GRCm39) missense probably benign
R0532:Mki67 UTSW 7 135,299,893 (GRCm39) nonsense probably null
R0548:Mki67 UTSW 7 135,298,637 (GRCm39) missense possibly damaging 0.82
R0548:Mki67 UTSW 7 135,296,985 (GRCm39) missense probably damaging 1.00
R0557:Mki67 UTSW 7 135,300,990 (GRCm39) missense possibly damaging 0.48
R0627:Mki67 UTSW 7 135,309,987 (GRCm39) missense probably benign 0.31
R0631:Mki67 UTSW 7 135,306,117 (GRCm39) missense probably damaging 0.98
R0848:Mki67 UTSW 7 135,302,772 (GRCm39) missense probably benign 0.21
R1075:Mki67 UTSW 7 135,299,040 (GRCm39) missense probably benign 0.03
R1105:Mki67 UTSW 7 135,302,779 (GRCm39) missense probably benign 0.09
R1272:Mki67 UTSW 7 135,302,143 (GRCm39) nonsense probably null
R1331:Mki67 UTSW 7 135,300,005 (GRCm39) missense possibly damaging 0.71
R1486:Mki67 UTSW 7 135,301,449 (GRCm39) missense probably benign 0.00
R1510:Mki67 UTSW 7 135,297,900 (GRCm39) missense probably benign 0.26
R1573:Mki67 UTSW 7 135,296,845 (GRCm39) missense possibly damaging 0.93
R1586:Mki67 UTSW 7 135,315,701 (GRCm39) nonsense probably null
R1599:Mki67 UTSW 7 135,301,663 (GRCm39) missense probably benign 0.34
R1623:Mki67 UTSW 7 135,310,547 (GRCm39) splice site probably null
R1706:Mki67 UTSW 7 135,302,295 (GRCm39) missense probably benign 0.37
R1718:Mki67 UTSW 7 135,297,223 (GRCm39) missense probably damaging 1.00
R1785:Mki67 UTSW 7 135,305,970 (GRCm39) critical splice acceptor site probably null
R1816:Mki67 UTSW 7 135,309,116 (GRCm39) missense possibly damaging 0.68
R1862:Mki67 UTSW 7 135,301,090 (GRCm39) missense probably benign 0.09
R1929:Mki67 UTSW 7 135,299,794 (GRCm39) missense possibly damaging 0.46
R1957:Mki67 UTSW 7 135,300,128 (GRCm39) missense probably benign 0.01
R1971:Mki67 UTSW 7 135,315,688 (GRCm39) critical splice donor site probably null
R1998:Mki67 UTSW 7 135,307,499 (GRCm39) missense probably benign 0.00
R2004:Mki67 UTSW 7 135,300,238 (GRCm39) nonsense probably null
R2005:Mki67 UTSW 7 135,300,238 (GRCm39) nonsense probably null
R2006:Mki67 UTSW 7 135,300,238 (GRCm39) nonsense probably null
R2109:Mki67 UTSW 7 135,299,592 (GRCm39) missense probably damaging 1.00
R2130:Mki67 UTSW 7 135,305,970 (GRCm39) critical splice acceptor site probably null
R2131:Mki67 UTSW 7 135,305,970 (GRCm39) critical splice acceptor site probably null
R2133:Mki67 UTSW 7 135,305,970 (GRCm39) critical splice acceptor site probably null
R2140:Mki67 UTSW 7 135,297,321 (GRCm39) missense possibly damaging 0.94
R2141:Mki67 UTSW 7 135,297,321 (GRCm39) missense possibly damaging 0.94
R2142:Mki67 UTSW 7 135,297,321 (GRCm39) missense possibly damaging 0.94
R2284:Mki67 UTSW 7 135,301,674 (GRCm39) missense probably damaging 0.99
R2869:Mki67 UTSW 7 135,309,878 (GRCm39) missense probably benign 0.19
R2869:Mki67 UTSW 7 135,309,878 (GRCm39) missense probably benign 0.19
R2871:Mki67 UTSW 7 135,309,878 (GRCm39) missense probably benign 0.19
R2871:Mki67 UTSW 7 135,309,878 (GRCm39) missense probably benign 0.19
R2913:Mki67 UTSW 7 135,302,415 (GRCm39) missense possibly damaging 0.71
R3404:Mki67 UTSW 7 135,309,204 (GRCm39) missense probably benign 0.01
R3405:Mki67 UTSW 7 135,309,204 (GRCm39) missense probably benign 0.01
R3406:Mki67 UTSW 7 135,309,204 (GRCm39) missense probably benign 0.01
R3777:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3778:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3787:Mki67 UTSW 7 135,302,012 (GRCm39) missense possibly damaging 0.93
R3847:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3848:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3853:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3971:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R3972:Mki67 UTSW 7 135,297,859 (GRCm39) missense probably benign 0.10
R4258:Mki67 UTSW 7 135,297,017 (GRCm39) missense possibly damaging 0.86
R4343:Mki67 UTSW 7 135,296,847 (GRCm39) missense probably benign 0.10
R4488:Mki67 UTSW 7 135,299,400 (GRCm39) missense probably benign 0.01
R4528:Mki67 UTSW 7 135,297,088 (GRCm39) missense probably damaging 1.00
R4713:Mki67 UTSW 7 135,297,198 (GRCm39) missense probably benign 0.35
R4867:Mki67 UTSW 7 135,301,585 (GRCm39) missense probably damaging 0.97
R4874:Mki67 UTSW 7 135,310,500 (GRCm39) missense probably damaging 0.97
R4897:Mki67 UTSW 7 135,298,474 (GRCm39) missense probably damaging 1.00
R5045:Mki67 UTSW 7 135,309,633 (GRCm39) missense possibly damaging 0.84
R5306:Mki67 UTSW 7 135,315,730 (GRCm39) missense probably damaging 1.00
R5309:Mki67 UTSW 7 135,302,559 (GRCm39) missense probably damaging 1.00
R5312:Mki67 UTSW 7 135,302,559 (GRCm39) missense probably damaging 1.00
R5379:Mki67 UTSW 7 135,299,190 (GRCm39) missense possibly damaging 0.95
R5513:Mki67 UTSW 7 135,309,479 (GRCm39) missense probably damaging 0.98
R5742:Mki67 UTSW 7 135,306,102 (GRCm39) missense probably benign 0.20
R5806:Mki67 UTSW 7 135,306,334 (GRCm39) missense probably damaging 1.00
R6008:Mki67 UTSW 7 135,299,158 (GRCm39) missense probably damaging 1.00
R6037:Mki67 UTSW 7 135,298,532 (GRCm39) missense possibly damaging 0.69
R6037:Mki67 UTSW 7 135,298,532 (GRCm39) missense possibly damaging 0.69
R6221:Mki67 UTSW 7 135,299,643 (GRCm39) missense probably benign 0.18
R6294:Mki67 UTSW 7 135,306,319 (GRCm39) missense probably benign 0.09
R6377:Mki67 UTSW 7 135,298,050 (GRCm39) missense possibly damaging 0.67
R6456:Mki67 UTSW 7 135,301,204 (GRCm39) missense possibly damaging 0.59
R6608:Mki67 UTSW 7 135,300,090 (GRCm39) missense probably benign 0.01
R6609:Mki67 UTSW 7 135,301,558 (GRCm39) missense possibly damaging 0.94
R6648:Mki67 UTSW 7 135,299,169 (GRCm39) missense probably damaging 1.00
R6901:Mki67 UTSW 7 135,310,489 (GRCm39) splice site probably null
R6978:Mki67 UTSW 7 135,303,691 (GRCm39) missense probably benign 0.10
R6985:Mki67 UTSW 7 135,315,594 (GRCm39) missense probably damaging 1.00
R7076:Mki67 UTSW 7 135,307,358 (GRCm39) missense probably damaging 0.98
R7217:Mki67 UTSW 7 135,305,911 (GRCm39) missense probably damaging 1.00
R7239:Mki67 UTSW 7 135,301,905 (GRCm39) missense possibly damaging 0.91
R7250:Mki67 UTSW 7 135,301,053 (GRCm39) missense possibly damaging 0.90
R7313:Mki67 UTSW 7 135,296,400 (GRCm39) missense probably benign 0.29
R7336:Mki67 UTSW 7 135,315,568 (GRCm39) missense probably benign 0.03
R7422:Mki67 UTSW 7 135,300,099 (GRCm39) missense probably damaging 1.00
R7451:Mki67 UTSW 7 135,301,080 (GRCm39) missense probably benign 0.01
R7502:Mki67 UTSW 7 135,302,512 (GRCm39) missense possibly damaging 0.53
R7513:Mki67 UTSW 7 135,294,952 (GRCm39) missense probably benign
R7578:Mki67 UTSW 7 135,302,644 (GRCm39) missense possibly damaging 0.68
R7619:Mki67 UTSW 7 135,301,106 (GRCm39) missense probably benign 0.01
R7646:Mki67 UTSW 7 135,298,498 (GRCm39) missense possibly damaging 0.63
R7659:Mki67 UTSW 7 135,299,155 (GRCm39) missense probably damaging 1.00
R7691:Mki67 UTSW 7 135,303,721 (GRCm39) missense not run
R7780:Mki67 UTSW 7 135,315,697 (GRCm39) missense probably benign 0.02
R7796:Mki67 UTSW 7 135,299,923 (GRCm39) missense probably damaging 1.00
R7904:Mki67 UTSW 7 135,294,816 (GRCm39) missense possibly damaging 0.90
R7911:Mki67 UTSW 7 135,306,333 (GRCm39) missense probably damaging 1.00
R7921:Mki67 UTSW 7 135,296,933 (GRCm39) missense probably benign 0.01
R7926:Mki67 UTSW 7 135,298,869 (GRCm39) missense possibly damaging 0.91
R7950:Mki67 UTSW 7 135,301,453 (GRCm39) nonsense probably null
R8130:Mki67 UTSW 7 135,299,293 (GRCm39) missense probably damaging 1.00
R8145:Mki67 UTSW 7 135,296,065 (GRCm39) missense probably benign 0.07
R8196:Mki67 UTSW 7 135,297,237 (GRCm39) missense probably damaging 1.00
R8220:Mki67 UTSW 7 135,299,850 (GRCm39) missense probably benign 0.03
R8299:Mki67 UTSW 7 135,306,349 (GRCm39) missense probably damaging 1.00
R8334:Mki67 UTSW 7 135,298,245 (GRCm39) missense probably damaging 0.98
R8350:Mki67 UTSW 7 135,300,200 (GRCm39) missense possibly damaging 0.82
R8358:Mki67 UTSW 7 135,301,855 (GRCm39) missense possibly damaging 0.46
R8529:Mki67 UTSW 7 135,315,688 (GRCm39) critical splice donor site probably null
R8698:Mki67 UTSW 7 135,296,937 (GRCm39) missense possibly damaging 0.87
R8700:Mki67 UTSW 7 135,307,436 (GRCm39) missense
R8737:Mki67 UTSW 7 135,315,504 (GRCm39) missense probably damaging 1.00
R8914:Mki67 UTSW 7 135,299,595 (GRCm39) missense
R8930:Mki67 UTSW 7 135,300,628 (GRCm39) missense possibly damaging 0.92
R8932:Mki67 UTSW 7 135,300,628 (GRCm39) missense possibly damaging 0.92
R8972:Mki67 UTSW 7 135,297,364 (GRCm39) missense possibly damaging 0.54
R8973:Mki67 UTSW 7 135,297,364 (GRCm39) missense possibly damaging 0.54
R8975:Mki67 UTSW 7 135,300,129 (GRCm39) missense probably benign 0.01
R8975:Mki67 UTSW 7 135,297,364 (GRCm39) missense possibly damaging 0.54
R9071:Mki67 UTSW 7 135,301,205 (GRCm39) missense probably benign 0.00
R9241:Mki67 UTSW 7 135,297,653 (GRCm39) missense possibly damaging 0.93
R9387:Mki67 UTSW 7 135,302,378 (GRCm39) missense probably damaging 0.99
R9524:Mki67 UTSW 7 135,305,913 (GRCm39) missense probably damaging 1.00
R9565:Mki67 UTSW 7 135,309,233 (GRCm39) frame shift probably null
R9782:Mki67 UTSW 7 135,306,066 (GRCm39) critical splice donor site probably null
X0020:Mki67 UTSW 7 135,315,730 (GRCm39) missense probably damaging 0.96
X0065:Mki67 UTSW 7 135,315,573 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTCCATGAAGGCTGTGCTGTC -3'
(R):5'- GGGGAATCCAGGCATAATCC -3'

Sequencing Primer
(F):5'- CATGAAGGCTGTGCTGTCATTTTC -3'
(R):5'- TCCCAAAATTTTAAAACTTGAGTGTG -3'
Posted On 2016-10-05