Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Plk4'

633705

Institutional Source

Beutler Lab

Gene Symbol

Plk4

Ensembl Gene

ENSMUSG00000025758

Gene Name

polo like kinase 4

Synonyms

Stk18, Sak

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40800019-40816883 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 40813574 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 851 (V851L)

Ref Sequence

ENSEMBL: ENSMUSP00000026858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000026859] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204032]

PDB Structure

Murine Sak Polo Domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026858
AA Change: V851L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: V851L

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 benign
Transcript: ENSMUST00000026859

SMART Domains

Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	31	235	3.6e-13	PFAM
Pfam:MFS_1	43	387	4.2e-31	PFAM
transmembrane domain	417	439	N/A	INTRINSIC
transmembrane domain	452	474	N/A	INTRINSIC
transmembrane domain	484	503	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167556
AA Change: V848L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: V848L

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 damaging
Transcript: ENSMUST00000203295
AA Change: V824L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: V824L

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

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 damaging
Transcript: ENSMUST00000204032
AA Change: V83L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758
AA Change: V83L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	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
IGL01906:Plk4	APN	3	40810381	missense	probably null	0.01
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
R8399:Plk4	UTSW	3	40808830	nonsense	probably null
R8411:Plk4	UTSW	3	40813466	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATTCGCCAACTTTAGCTAC -3'
(R):5'- GACATCATTCTCTATTCTGCAAAACCC -3'

Sequencing Primer
(F):5'- CAGAAGACATGATTTGGCCTTCC -3'
(R):5'- TTCTGCAAAACCCTTATCATGAC -3'

Posted On

2020-07-13