Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Plk4'

166436

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 #

R1529 (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 40760971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 434 (T434A)

Ref Sequence

ENSEMBL: ENSMUSP00000145277 (fasta)

Gene Model

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

AlphaFold

Q64702

Predicted Effect

probably benign
Transcript: ENSMUST00000026858
AA Change: T434A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758
AA Change: T434A

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: T434A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758
AA Change: T434A

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: T434A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758
AA Change: T434A

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: ENSMUST00000205046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204594

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ecpas	T	C	4: 58,832,701 (GRCm39)		probably null	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hif3a	A	C	7: 16,776,564 (GRCm39)	S459A	probably benign	Het
Hnrnpl	T	A	7: 28,513,348 (GRCm39)	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Samd8	T	A	14: 21,825,227 (GRCm39)	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tmtc2	G	A	10: 105,139,519 (GRCm39)	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	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
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
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'- AGCTGTGATACTGACTGCCTTCTGA -3'
(R):5'- AAGAATCCTGGCTCTTCCGCCT -3'

Sequencing Primer
(F):5'- CTGACTGCCTTCTGATATGAACAG -3'
(R):5'- CTGTGCAAACCAAGATCTGTG -3'

Posted On

2014-04-13