Incidental Mutation 'IGL01063:Mki67'
ID 51419
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 # IGL01063
Quality Score
Status
Chromosome 7
Chromosomal Location 135291513-135318090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135296651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2794 (D2794E)
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: D2794E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033310
Gene: ENSMUSG00000031004
AA Change: D2794E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S 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
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
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 2013-06-21