Mutagenetix > Incidental Mutation

Incidental Mutation 'R7412:Plk4'

575127

Institutional Source

Beutler Lab

Gene Symbol

Plk4

Ensembl Gene

ENSMUSG00000025758

Gene Name

polo like kinase 4

Synonyms

Stk18, Sak

MMRRC Submission

045493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7412 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40754463-40771318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40766613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 764 (V764I)

Ref Sequence

ENSEMBL: ENSMUSP00000026858 (fasta)

Gene Model

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

AlphaFold

Q64702

PDB Structure

Murine Sak Polo Domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000026858
AA Change: V764I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: V764I

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: ENSMUST00000167556
AA Change: V761I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: V761I

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
AA Change: V737I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: V737I

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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (71/73)

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
1700017N19Rik	T	A	10: 100,448,691 (GRCm39)	Y335*	probably null	Het
Alpk1	A	T	3: 127,466,143 (GRCm39)	L1121Q	probably damaging	Het
Alpk1	A	G	3: 127,489,382 (GRCm39)	I99T	probably damaging	Het
Ap2a2	T	A	7: 141,206,049 (GRCm39)	F717I	probably damaging	Het
Arhgap33	C	T	7: 30,222,477 (GRCm39)	D1152N	probably benign	Het
Arvcf	A	G	16: 18,220,350 (GRCm39)	D642G	probably benign	Het
Astn1	T	G	1: 158,329,919 (GRCm39)	M258R	probably damaging	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Ccdc177	A	G	12: 80,805,792 (GRCm39)	F161L	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cnot10	A	G	9: 114,454,971 (GRCm39)	Y221H	probably damaging	Het
Col6a3	T	A	1: 90,755,855 (GRCm39)	I145F	probably damaging	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp4f37	A	G	17: 32,848,818 (GRCm39)	S229G	possibly damaging	Het
Ddx56	G	A	11: 6,211,720 (GRCm39)	T462I	probably damaging	Het
Dhx30	T	C	9: 109,921,966 (GRCm39)	M239V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephb6	A	G	6: 41,597,173 (GRCm39)	K994E	probably damaging	Het
Fam83a	A	C	15: 57,849,821 (GRCm39)	T122P	probably benign	Het
Fbxo24	C	A	5: 137,617,885 (GRCm39)	C293F	possibly damaging	Het
Fech	A	T	18: 64,591,255 (GRCm39)	S390T	probably benign	Het
Fras1	A	G	5: 96,762,748 (GRCm39)	H750R	probably benign	Het
Frmpd2	A	G	14: 33,293,926 (GRCm39)	D1364G	probably benign	Het
Ganab	T	C	19: 8,889,892 (GRCm39)	I652T	probably benign	Het
Gm21103	T	A	14: 17,482,943 (GRCm39)	T153S	probably benign	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG	18: 80,132,967 (GRCm39)		probably benign	Het
Gm5799	A	G	14: 43,781,995 (GRCm39)	I56V	possibly damaging	Het
Gm7276	T	C	18: 77,273,183 (GRCm39)	R184G	unknown	Het
Gmip	T	G	8: 70,273,149 (GRCm39)	D845E	probably benign	Het
Hspa9	T	C	18: 35,082,082 (GRCm39)	K175E	probably damaging	Het
Ipo13	A	G	4: 117,752,068 (GRCm39)	F890L	probably benign	Het
Irag1	A	T	7: 110,522,963 (GRCm39)	V160D	probably benign	Het
Klrb1f	C	T	6: 129,033,308 (GRCm39)	R179*	probably null	Het
Nasp	A	G	4: 116,467,785 (GRCm39)	V400A	possibly damaging	Het
Ncoa7	T	A	10: 30,598,847 (GRCm39)	K25N	possibly damaging	Het
Ndrg1	A	C	15: 66,832,382 (GRCm39)	M1R	probably null	Het
Nf1	G	A	11: 79,364,240 (GRCm39)	A1557T	probably damaging	Het
Nrde2	G	A	12: 100,108,509 (GRCm39)	Q361*	probably null	Het
Opn1sw	A	T	6: 29,379,856 (GRCm39)	L126Q	probably damaging	Het
Or10ak16	A	T	4: 118,750,327 (GRCm39)	I16F	possibly damaging	Het
Or1af1	C	T	2: 37,109,774 (GRCm39)	T91I	possibly damaging	Het
Or1j4	T	C	2: 36,740,478 (GRCm39)	L140P	probably benign	Het
Or5au1	A	T	14: 52,273,310 (GRCm39)	L86*	probably null	Het
Or7g17	A	T	9: 18,768,085 (GRCm39)	I46F	possibly damaging	Het
Or8g50	T	C	9: 39,648,422 (GRCm39)	F104L	probably benign	Het
Osmr	A	G	15: 6,853,048 (GRCm39)	Y616H	probably damaging	Het
Pagr1a	T	C	7: 126,615,736 (GRCm39)	T120A	probably benign	Het
Patj	A	G	4: 98,299,376 (GRCm39)	E166G	probably damaging	Het
Polr3h	G	A	15: 81,800,602 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,177,043 (GRCm39)	D989E	probably benign	Het
Sdk2	A	T	11: 113,758,909 (GRCm39)		probably null	Het
Setd1b	C	A	5: 123,290,639 (GRCm39)	R869S	unknown	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Skint8	G	A	4: 111,785,758 (GRCm39)	G68D	probably benign	Het
Slc22a7	A	T	17: 46,745,553 (GRCm39)	V326E	probably benign	Het
Slc39a1	T	G	3: 90,156,396 (GRCm39)	L38R	probably damaging	Het
Slc4a4	A	G	5: 89,362,506 (GRCm39)		probably null	Het
Sptlc3	A	G	2: 139,431,537 (GRCm39)	E353G	possibly damaging	Het
Ssh2	G	T	11: 77,340,934 (GRCm39)	L695F	probably damaging	Het
Tacr2	C	A	10: 62,097,427 (GRCm39)	Y302*	probably null	Het
Tas2r117	T	C	6: 132,780,192 (GRCm39)	L110P	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,468,645 (GRCm39)	T195S	probably benign	Het
Trcg1	T	A	9: 57,148,766 (GRCm39)	S113T	probably benign	Het
Trpa1	A	T	1: 14,954,422 (GRCm39)	F826I	probably benign	Het
Usp17lc	A	G	7: 103,067,575 (GRCm39)	Y290C	probably damaging	Het
Vmn2r32	T	A	7: 7,477,212 (GRCm39)	D393V	possibly damaging	Het
Wdfy4	A	G	14: 32,871,541 (GRCm39)	L290P		Het
Xpnpep1	G	C	19: 52,994,722 (GRCm39)	A302G	probably benign	Het
Xrn2	T	C	2: 146,891,266 (GRCm39)	L692P	probably damaging	Het
Zgrf1	A	G	3: 127,356,720 (GRCm39)	S649G	probably benign	Het
Zscan4b	C	T	7: 10,634,791 (GRCm39)	C484Y	probably damaging	Het
Zscan4b	T	C	7: 10,635,820 (GRCm39)	D169G	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
R4765:Plk4	UTSW	3	40,756,457 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGGCTTTCTACTTAATTTTCAGGAGC -3'
(R):5'- TTCTGAGATGGAGTGGCCTC -3'

Sequencing Primer
(F):5'- TGGACCATGCTAATGAGGTATGTACC -3'
(R):5'- AGTGGCCTCCAGTCCTC -3'

Posted On

2019-10-07