Incidental Mutation 'IGL02499:Mki67'
ID 295958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mki67
Ensembl Gene ENSMUSG00000031004
Gene Name antigen identified by monoclonal antibody Ki 67
Synonyms D630048A14Rik, Ki-67, Ki67
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL02499
Quality Score
Status
Chromosome 7
Chromosomal Location 135291513-135318090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135296056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2993 (S2993P)
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: S2993P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033310
Gene: ENSMUSG00000031004
AA Change: S2993P

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
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Abr A T 11: 76,399,916 (GRCm39) F27Y probably benign Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Bdh1 G T 16: 31,256,866 (GRCm39) R5L possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cd209e T A 8: 3,904,238 (GRCm39) M6L probably benign Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kat14 A G 2: 144,235,751 (GRCm39) E161G probably benign Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Sqor T A 2: 122,650,007 (GRCm39) M417K possibly damaging Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) probably benign 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
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
R5506:Mki67 UTSW 7 135,301,710 (GRCm39) missense possibly damaging 0.60
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
Posted On 2015-04-16