Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01906:Plk4'

179665

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plk4

Ensembl Gene

ENSMUSG00000025758

Gene Name

polo like kinase 4

Synonyms

Stk18, Sak

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01906

Quality Score

Status

Chromosome

Chromosomal Location

40800019-40816883 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40810381 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 603 (M603I)

Ref Sequence

ENSEMBL: ENSMUSP00000126945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204032]

Predicted Effect

probably null
Transcript: ENSMUST00000026858
AA Change: M606I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: M606I

Domain	Start	End	E-Value	Type
S_TKc	12	265	3.46e-100	SMART
low complexity region	288	312	N/A	INTRINSIC
low complexity region	329	341	N/A	INTRINSIC
PDB:4G7N\|B	554	774	6e-41	PDB
low complexity region	820	831	N/A	INTRINSIC
Pfam:POLO_box	849	910	7e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167556
AA Change: M603I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: M603I

Domain	Start	End	E-Value	Type
S_TKc	12	265	3.46e-100	SMART
low complexity region	288	312	N/A	INTRINSIC
low complexity region	329	341	N/A	INTRINSIC
PDB:4G7N\|B	551	771	6e-41	PDB
low complexity region	817	828	N/A	INTRINSIC
Pfam:POLO_box	844	908	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203295

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758

Domain	Start	End	E-Value	Type
S_TKc	12	265	3.46e-100	SMART
low complexity region	288	312	N/A	INTRINSIC
low complexity region	329	341	N/A	INTRINSIC
PDB:4G7N\|B	554	747	3e-32	PDB
low complexity region	793	804	N/A	INTRINSIC
Pfam:POLO_box	822	883	6.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203320

Predicted Effect

probably benign
Transcript: ENSMUST00000203895

SMART Domains

Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758

Domain	Start	End	E-Value	Type
STYKc	12	143	3.5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204032

SMART Domains

Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
Pfam:POLO_box	81	142	2.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204594

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to the nucleolus during G2, to centrosomes during G2/M, and to the cleavage furrow during cytokinesis. It is required for progression through mitosis, cell survival, and embryonic development. The mouse genome contains a pseudogene similar to this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene die before birth. Development is arrested around E7.5. Mice heterozygous for an ENU-induced allele or gene trap alele exhibit male hypogonadism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,216,225	Q24L	probably damaging	Het
Adam1b	A	T	5: 121,501,475	N502K	probably benign	Het
Adam6a	T	A	12: 113,544,331	M108K	probably benign	Het
Akr1b10	A	G	6: 34,387,811	K69R	probably benign	Het
Ap5b1	T	A	19: 5,570,979	L809*	probably null	Het
Asxl3	A	T	18: 22,522,281	H1116L	probably benign	Het
Birc6	A	G	17: 74,638,358	T2794A	probably damaging	Het
Bst1	T	C	5: 43,837,519	F248L	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cep120	A	T	18: 53,714,912	V625E	probably benign	Het
Cgnl1	T	C	9: 71,724,567	M501V	probably benign	Het
Col19a1	T	A	1: 24,317,429	D661V	probably damaging	Het
Copb2	A	T	9: 98,580,330	E456V	probably benign	Het
Csk	A	G	9: 57,629,021	I201T	probably damaging	Het
Cttnbp2	G	T	6: 18,378,376	S977*	probably null	Het
Ddr2	A	G	1: 169,982,099	W770R	probably damaging	Het
Dnah7b	T	C	1: 46,175,453	I1126T	probably damaging	Het
Dusp27	A	C	1: 166,099,523	L840R	probably damaging	Het
Ephb4	A	T	5: 137,361,194	E342V	probably damaging	Het
Erc2	T	A	14: 28,141,306	L496Q	probably damaging	Het
Faim2	G	A	15: 99,514,433	T140I	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Haus3	A	C	5: 34,168,323		probably benign	Het
Hmcn1	T	C	1: 150,667,887	T2846A	probably benign	Het
Mto1	T	C	9: 78,464,931	V561A	probably benign	Het
Myb	T	C	10: 21,152,634	Y110C	probably damaging	Het
Olfr1280	T	C	2: 111,315,901	C141R	probably damaging	Het
Plcd3	T	C	11: 103,076,856	Y420C	probably damaging	Het
Scgb1b24	T	C	7: 33,744,113	C66R	probably damaging	Het
Sec23a	T	C	12: 59,007,044	Y56C	probably damaging	Het
Setd1b	C	A	5: 123,157,667	D1099E	unknown	Het
Sh2d7	G	A	9: 54,539,466		probably benign	Het
Slc30a10	A	T	1: 185,456,396	K221*	probably null	Het
Slc5a1	T	C	5: 33,154,653	L463P	probably damaging	Het
Strc	T	C	2: 121,377,634	T419A	probably benign	Het
Ttc39a	T	C	4: 109,421,394	M82T	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps13b	T	C	15: 35,639,847		probably benign	Het

Other mutations in Plk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Plk4	APN	3	40801789	missense	probably damaging	1.00
IGL01730:Plk4	APN	3	40805850	missense	probably benign	0.00
IGL02021:Plk4	APN	3	40810708	missense	probably damaging	0.97
IGL02718:Plk4	APN	3	40815021	missense	probably damaging	1.00
IGL03287:Plk4	APN	3	40805118	missense	probably benign	0.11
R0058:Plk4	UTSW	3	40805872	missense	probably benign
R0058:Plk4	UTSW	3	40805872	missense	probably benign
R0312:Plk4	UTSW	3	40813547	missense	probably damaging	0.97
R0387:Plk4	UTSW	3	40812884	splice site	probably benign
R0411:Plk4	UTSW	3	40811219	unclassified	probably benign
R0480:Plk4	UTSW	3	40805640	missense	probably benign	0.15
R1170:Plk4	UTSW	3	40801847	missense	probably damaging	1.00
R1268:Plk4	UTSW	3	40811369	missense	probably damaging	1.00
R1529:Plk4	UTSW	3	40806536	missense	probably benign	0.09
R1987:Plk4	UTSW	3	40805817	missense	possibly damaging	0.60
R1988:Plk4	UTSW	3	40805817	missense	possibly damaging	0.60
R2050:Plk4	UTSW	3	40810380	missense	probably benign
R4409:Plk4	UTSW	3	40806549	missense	probably damaging	0.98
R4727:Plk4	UTSW	3	40805154	missense	probably benign	0.00
R4765:Plk4	UTSW	3	40802022	missense	probably damaging	1.00
R4772:Plk4	UTSW	3	40805190	missense	probably damaging	1.00
R5022:Plk4	UTSW	3	40802077	splice site	probably null
R5363:Plk4	UTSW	3	40801984	missense	possibly damaging	0.71
R5651:Plk4	UTSW	3	40813505	missense	probably benign	0.00
R5665:Plk4	UTSW	3	40813586	missense	possibly damaging	0.79
R5724:Plk4	UTSW	3	40801046	missense	probably damaging	1.00
R6391:Plk4	UTSW	3	40808973	missense	probably benign	0.05
R6694:Plk4	UTSW	3	40801828	missense	probably damaging	1.00
R7412:Plk4	UTSW	3	40812178	missense	probably benign
R8047:Plk4	UTSW	3	40805752	missense	probably benign
R8165:Plk4	UTSW	3	40813574	missense	probably damaging	0.99
R8399:Plk4	UTSW	3	40808830	nonsense	probably null
R8411:Plk4	UTSW	3	40813466	missense	probably benign
R8724:Plk4	UTSW	3	40813587	missense	probably damaging	0.97

Posted On

2014-05-07