Mutagenetix > Incidental Mutation

Incidental Mutation 'R4488:Mki67'

330595

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

041744-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R4488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135291513-135318090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135299400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1878 (T1878I)

Ref Sequence

ENSEMBL: ENSMUSP00000033310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033310]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033310
AA Change: T1878I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033310
Gene: ENSMUSG00000031004
AA Change: T1878I

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal1	A	T	1: 6,429,631 (GRCm39)	Q26L	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Brox	A	G	1: 183,062,514 (GRCm39)	L280S	probably benign	Het
Cep41	A	T	6: 30,655,688 (GRCm39)		probably benign	Het
Cryz	C	A	3: 154,324,094 (GRCm39)		probably benign	Het
Cyp26c1	T	C	19: 37,681,658 (GRCm39)	V487A	probably benign	Het
Dlx6	T	C	6: 6,867,207 (GRCm39)	M270T	probably damaging	Het
Glb1	T	C	9: 114,272,182 (GRCm39)	I273T	probably damaging	Het
Glp1r	A	C	17: 31,137,905 (GRCm39)	H112P	probably benign	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hao2	T	A	3: 98,789,341 (GRCm39)	I116F	probably damaging	Het
Hcrtr1	A	G	4: 130,029,556 (GRCm39)	V175A	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Ncoa6	A	G	2: 155,249,396 (GRCm39)	F1303L	possibly damaging	Het
Ngf	G	A	3: 102,428,015 (GRCm39)	D255N	probably damaging	Het
Nutf2	T	A	8: 106,603,059 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Rbm45	T	C	2: 76,206,740 (GRCm39)	S251P	probably damaging	Het
Rnaset2b	A	G	17: 7,265,469 (GRCm39)	Y155C	probably damaging	Het
Rnf122	A	G	8: 31,618,283 (GRCm39)	T92A	probably damaging	Het
Rnf220	A	G	4: 117,347,011 (GRCm39)	S134P	probably damaging	Het
Shprh	A	T	10: 11,036,215 (GRCm39)	I351F	probably benign	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Sulf1	G	T	1: 12,856,739 (GRCm39)		probably benign	Het
Svil	T	C	18: 5,049,067 (GRCm39)	Y202H	probably damaging	Het
Tek	A	G	4: 94,737,993 (GRCm39)	D681G	possibly damaging	Het
Tra2a	A	G	6: 49,229,428 (GRCm39)		probably benign	Het
Vcp	A	T	4: 42,993,826 (GRCm39)	I102N	probably damaging	Het
Vmn2r25	A	T	6: 123,799,819 (GRCm39)	I841N	probably damaging	Het
Zfp949	T	C	9: 88,452,142 (GRCm39)	S571P	probably damaging	Het
Zkscan16	A	G	4: 58,957,431 (GRCm39)	E571G	possibly damaging	Het
Zup1	G	A	10: 33,824,960 (GRCm39)	T174I	probably damaging	Het

Other mutations in Mki67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TTCAACACTCACAGGGTCAC -3'
(R):5'- CTCTTTCAAACACCAGCCAGTG -3'

Sequencing Primer
(F):5'- CCAGCTGGTGTTTGAAAGA -3'
(R):5'- GACCCAGTAACTGTTGATGAAAC -3'

Posted On

2015-07-21