Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Plk4'

367588

Institutional Source

Beutler Lab

Gene Symbol

Plk4

Ensembl Gene

ENSMUSG00000025758

Gene Name

polo like kinase 4

Synonyms

Stk18, Sak

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40754463-40771318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40759625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 174 (T174A)

Ref Sequence

ENSEMBL: ENSMUSP00000145277 (fasta)

Gene Model

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

AlphaFold

Q64702

Predicted Effect

probably damaging
Transcript: ENSMUST00000026858
AA Change: T174A

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

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: T174A

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: T174A

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

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: T174A

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: T174A

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

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: T174A

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

noncoding transcript
Transcript: ENSMUST00000204289

Predicted Effect

probably benign
Transcript: ENSMUST00000204473

SMART Domains

Protein: ENSMUSP00000144693
Gene: ENSMUSG00000025758

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

Meta Mutation Damage Score

0.9326

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	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
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'- GCACCAGATTATCACAGGAATG -3'
(R):5'- GATCTGCAGGGTTTCTACGAAG -3'

Sequencing Primer
(F):5'- GGGACCTCACACTCTCTA -3'
(R):5'- TCGTGACAAAAAGGCTGGCATTTC -3'

Posted On

2015-12-29