Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Plk1'

376978

Institutional Source

Beutler Lab

Gene Symbol

Plk1

Ensembl Gene

ENSMUSG00000030867

Gene Name

polo like kinase 1

Synonyms

Plk, STPK13

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122159439-122169873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122168605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 411 (V411A)

Ref Sequence

ENSEMBL: ENSMUSP00000033154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198] [ENSMUST00000206470]

AlphaFold

Q07832

Predicted Effect

probably benign
Transcript: ENSMUST00000033153

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
PQQ	33	64	5.5e-8	SMART
PQQ	115	147	4.7e-4	SMART
PQQ	148	180	6.1e-2	SMART
PQQ	192	223	6.2e-3	SMART
low complexity region	449	461	N/A	INTRINSIC
S_TKc	508	768	2.5e-11	SMART
PUG	831	888	9e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000033154
AA Change: V411A

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

SMART Domains

Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
AA Change: V411A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	20	35	N/A	INTRINSIC
S_TKc	53	305	7.36e-95	SMART
low complexity region	354	365	N/A	INTRINSIC
Pfam:POLO_box	418	479	4.4e-24	PFAM
Pfam:POLO_box	516	583	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206202

Predicted Effect

probably benign
Transcript: ENSMUST00000206470

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and may play a role in DNA replication during S phase. This gene is expressed in all embryonic tissues, but restricted to thymus and ovaries in adult tissues. Homozygous knockout mice were embryonic lethal, suggesting that this gene is important for early embryonic development. This gene is thought to be a potential oncogene because it is overexpressed in a variety of tumors and tumor cell lines. Depletion of this protein in cancer cells has been shown to inhibit cell proliferation and suppress oncogenic transformation; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display lethality before implantation, embryonic growth arrest, and impaired mitosis. Mice heterozygous for a null mutation display increased tumor incidence and increased incidence of aneuploidy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324 (GRCm38)	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165 (GRCm38)	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252 (GRCm38)	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701 (GRCm38)	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821 (GRCm38)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614 (GRCm38)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378 (GRCm38)	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475 (GRCm38)	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188 (GRCm38)	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099 (GRCm38)	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509 (GRCm38)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192 (GRCm38)	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113 (GRCm38)	R333*	probably null	Het
Brca2	T	A	5: 150,556,937 (GRCm38)	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378 (GRCm38)	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734 (GRCm38)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287 (GRCm38)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772 (GRCm38)	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524 (GRCm38)	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218 (GRCm38)	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635 (GRCm38)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832 (GRCm38)	C267Y	probably benign	Het
Cep68	G	A	11: 20,239,239 (GRCm38)	T591M	probably benign	Het
Chil4	T	C	3: 106,204,144 (GRCm38)	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859 (GRCm38)	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276 (GRCm38)	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296 (GRCm38)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068 (GRCm38)	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159 (GRCm38)	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759 (GRCm38)	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758 (GRCm38)		probably null	Het
Ednrb	T	C	14: 103,820,011 (GRCm38)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610 (GRCm38)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253 (GRCm38)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm38)	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774 (GRCm38)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961 (GRCm38)	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316 (GRCm38)	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416 (GRCm38)	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949 (GRCm38)	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071 (GRCm38)		probably benign	Het
Gm884	T	C	11: 103,614,872 (GRCm38)	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747 (GRCm38)	R51C	possibly damaging	Het
Herc3	T	C	6: 58,887,499 (GRCm38)	V706A	probably damaging	Het
Hist1h4a	T	C	13: 23,760,952 (GRCm38)	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934 (GRCm38)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650 (GRCm38)	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156 (GRCm38)	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701 (GRCm38)	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698 (GRCm38)	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130 (GRCm38)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536 (GRCm38)	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520 (GRCm38)	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809 (GRCm38)	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114 (GRCm38)	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384 (GRCm38)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm38)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409 (GRCm38)		probably benign	Het
Ms4a2	A	G	19: 11,618,429 (GRCm38)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103 (GRCm38)	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054 (GRCm38)	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434 (GRCm38)	C1270*	probably null	Het
Ncoa5	A	G	2: 165,002,150 (GRCm38)	L111P	probably damaging	Het
Nup107	T	C	10: 117,770,478 (GRCm38)	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358 (GRCm38)	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891 (GRCm38)	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688 (GRCm38)	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096 (GRCm38)	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101 (GRCm38)	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235 (GRCm38)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942 (GRCm38)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328 (GRCm38)	C76S	probably damaging	Het
Pole	C	T	5: 110,324,753 (GRCm38)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881 (GRCm38)	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721 (GRCm38)	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113 (GRCm38)	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694 (GRCm38)	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704 (GRCm38)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708 (GRCm38)	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800 (GRCm38)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752 (GRCm38)	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978 (GRCm38)	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752 (GRCm38)	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831 (GRCm38)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,746,934 (GRCm38)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,809,100 (GRCm38)	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386 (GRCm38)	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312 (GRCm38)	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131 (GRCm38)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665 (GRCm38)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986 (GRCm38)	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774 (GRCm38)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,071,002 (GRCm38)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm38)	C394Y	possibly damaging	Het

Other mutations in Plk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Plk1	APN	7	122,168,925 (GRCm38)	missense	probably damaging	0.96
IGL02895:Plk1	APN	7	122,169,166 (GRCm38)	missense	possibly damaging	0.91
IGL03143:Plk1	APN	7	122,161,654 (GRCm38)	intron	probably benign
R0018:Plk1	UTSW	7	122,168,985 (GRCm38)	critical splice donor site	probably null
R1365:Plk1	UTSW	7	122,168,629 (GRCm38)	missense	probably damaging	1.00
R1710:Plk1	UTSW	7	122,168,898 (GRCm38)	missense	probably damaging	1.00
R2016:Plk1	UTSW	7	122,162,440 (GRCm38)	missense	probably damaging	1.00
R2248:Plk1	UTSW	7	122,168,821 (GRCm38)	unclassified	probably benign
R2327:Plk1	UTSW	7	122,159,895 (GRCm38)	missense	probably benign
R6246:Plk1	UTSW	7	122,169,436 (GRCm38)	missense	probably damaging	1.00
R7698:Plk1	UTSW	7	122,169,258 (GRCm38)	missense	probably damaging	1.00
R9319:Plk1	UTSW	7	122,168,899 (GRCm38)	missense	probably damaging	0.97
Z1176:Plk1	UTSW	7	122,167,650 (GRCm38)	missense	not run
Z1177:Plk1	UTSW	7	122,167,650 (GRCm38)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TAGAGTACAGGGGCTCACTC -3'
(R):5'- AGGCCTTGGAAGAACTCAGTAG -3'

Sequencing Primer
(F):5'- CTCACTCGTGATGAAGTGGGC -3'
(R):5'- GAACTCAGTAGTACAATGCTTGCC -3'

Posted On

2016-03-17