Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Plk4'

366043

Institutional Source

Beutler Lab

Gene Symbol

Plk4

Ensembl Gene

ENSMUSG00000025758

Gene Name

polo like kinase 4

Synonyms

Stk18, Sak

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40754463-40771318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40756457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

Ref Sequence

ENSEMBL: ENSMUSP00000144693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204473]

AlphaFold

Q64702

Predicted Effect

probably damaging
Transcript: ENSMUST00000026858
AA Change: E96G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: E96G

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 damaging
Transcript: ENSMUST00000167556
AA Change: E96G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: E96G

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: ENSMUST00000169566
AA Change: E97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133225
Gene: ENSMUSG00000025758
AA Change: E97G

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	13	114	9.6e-17	PFAM
Pfam:Pkinase	13	115	9e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203295
AA Change: E96G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: E96G

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 damaging
Transcript: ENSMUST00000203895
AA Change: E96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758
AA Change: E96G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204289

Predicted Effect

probably damaging
Transcript: ENSMUST00000204473
AA Change: E97G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758
AA Change: E97G

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	13	114	4.9e-17	PFAM
Pfam:Pkinase	13	115	2.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205046

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	probably benign	Het

Other mutations in Plk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Plk4	APN	3	40,756,224 (GRCm39)	missense	probably damaging	1.00
IGL01730:Plk4	APN	3	40,760,285 (GRCm39)	missense	probably benign	0.00
IGL01906:Plk4	APN	3	40,764,816 (GRCm39)	missense	probably null	0.01
IGL02021:Plk4	APN	3	40,765,143 (GRCm39)	missense	probably damaging	0.97
IGL02718:Plk4	APN	3	40,769,456 (GRCm39)	missense	probably damaging	1.00
IGL03287:Plk4	APN	3	40,759,553 (GRCm39)	missense	probably benign	0.11
R0058:Plk4	UTSW	3	40,760,307 (GRCm39)	missense	probably benign
R0058:Plk4	UTSW	3	40,760,307 (GRCm39)	missense	probably benign
R0312:Plk4	UTSW	3	40,767,982 (GRCm39)	missense	probably damaging	0.97
R0387:Plk4	UTSW	3	40,767,319 (GRCm39)	splice site	probably benign
R0411:Plk4	UTSW	3	40,765,654 (GRCm39)	unclassified	probably benign
R0480:Plk4	UTSW	3	40,760,075 (GRCm39)	missense	probably benign	0.15
R1170:Plk4	UTSW	3	40,756,282 (GRCm39)	missense	probably damaging	1.00
R1268:Plk4	UTSW	3	40,765,804 (GRCm39)	missense	probably damaging	1.00
R1529:Plk4	UTSW	3	40,760,971 (GRCm39)	missense	probably benign	0.09
R1987:Plk4	UTSW	3	40,760,252 (GRCm39)	missense	possibly damaging	0.60
R1988:Plk4	UTSW	3	40,760,252 (GRCm39)	missense	possibly damaging	0.60
R2050:Plk4	UTSW	3	40,764,815 (GRCm39)	missense	probably benign
R4409:Plk4	UTSW	3	40,760,984 (GRCm39)	missense	probably damaging	0.98
R4727:Plk4	UTSW	3	40,759,589 (GRCm39)	missense	probably benign	0.00
R4772:Plk4	UTSW	3	40,759,625 (GRCm39)	missense	probably damaging	1.00
R5022:Plk4	UTSW	3	40,756,512 (GRCm39)	splice site	probably null
R5363:Plk4	UTSW	3	40,756,419 (GRCm39)	missense	possibly damaging	0.71
R5651:Plk4	UTSW	3	40,767,940 (GRCm39)	missense	probably benign	0.00
R5665:Plk4	UTSW	3	40,768,021 (GRCm39)	missense	possibly damaging	0.79
R5724:Plk4	UTSW	3	40,755,481 (GRCm39)	missense	probably damaging	1.00
R6391:Plk4	UTSW	3	40,763,408 (GRCm39)	missense	probably benign	0.05
R6694:Plk4	UTSW	3	40,756,263 (GRCm39)	missense	probably damaging	1.00
R7412:Plk4	UTSW	3	40,766,613 (GRCm39)	missense	probably benign
R8047:Plk4	UTSW	3	40,760,187 (GRCm39)	missense	probably benign
R8165:Plk4	UTSW	3	40,768,009 (GRCm39)	missense	probably damaging	0.99
R8399:Plk4	UTSW	3	40,763,265 (GRCm39)	nonsense	probably null
R8411:Plk4	UTSW	3	40,767,901 (GRCm39)	missense	probably benign
R8724:Plk4	UTSW	3	40,768,022 (GRCm39)	missense	probably damaging	0.97
R9222:Plk4	UTSW	3	40,760,990 (GRCm39)	missense	possibly damaging	0.94
R9294:Plk4	UTSW	3	40,766,326 (GRCm39)	missense	probably damaging	1.00
R9573:Plk4	UTSW	3	40,763,257 (GRCm39)	missense	probably benign	0.00
R9794:Plk4	UTSW	3	40,759,535 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTTGAAACACCCCTCTGTC -3'
(R):5'- GAGGCACACTTATACACATGCC -3'

Sequencing Primer
(F):5'- CCCTCTGTCTTGGAGGTAAGATAC -3'
(R):5'- GTGGATAAGAGTCCTAGCTCACC -3'

Posted On

2015-12-21