Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Pkmyt1'

507858

Institutional Source

Beutler Lab

Gene Symbol

Pkmyt1

Ensembl Gene

ENSMUSG00000023908

Gene Name

protein kinase, membrane associated tyrosine/threonine 1

Synonyms

Myt1

MMRRC Submission

044449-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R6279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23945385-23955709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23951476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 10 (P10L)

Ref Sequence

ENSEMBL: ENSMUSP00000024701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024701] [ENSMUST00000024702]

AlphaFold

Q9ESG9

Predicted Effect

probably benign
Transcript: ENSMUST00000024701
AA Change: P10L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908
AA Change: P10L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	101	347	3.4e-22	PFAM
Pfam:Pkinase	101	350	1.2e-47	PFAM
Pfam:Kinase-like	205	334	6.8e-11	PFAM
low complexity region	397	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000024702

SMART Domains

Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	254	1e-26	PFAM

Meta Mutation Damage Score

0.1096

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Arid1b	C	A	17: 5,392,274 (GRCm39)	L1935M	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,258,169 (GRCm39)	K150N	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Faap24	A	C	7: 35,095,709 (GRCm39)	V12G	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Ggta1	A	G	2: 35,298,006 (GRCm39)	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il12a	A	T	3: 68,605,312 (GRCm39)	I193F	probably damaging	Het
Il2rb	T	C	15: 78,365,738 (GRCm39)	N520D	possibly damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Lrba	A	G	3: 86,256,171 (GRCm39)	D1171G	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Msh6	T	C	17: 88,287,677 (GRCm39)	W106R	probably damaging	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or10w3	A	G	19: 13,704,029 (GRCm39)	I135V	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or4c105	A	T	2: 88,647,719 (GRCm39)	D68V	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pde10a	T	C	17: 9,197,789 (GRCm39)	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,606,496 (GRCm39)	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pphln1-ps1	T	C	16: 13,495,134 (GRCm39)	S78P	probably damaging	Het
Prr5l	A	T	2: 101,547,765 (GRCm39)	Y253*	probably null	Het
Rdh9	A	G	10: 127,612,627 (GRCm39)	T92A	probably benign	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr1	A	T	7: 28,786,853 (GRCm39)	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,011,409 (GRCm39)	I332F	possibly damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Slk	A	G	19: 47,630,443 (GRCm39)	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Tnpo1	G	A	13: 99,027,216 (GRCm39)	P25L	possibly damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Tshz1	A	T	18: 84,033,436 (GRCm39)	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	Het

Other mutations in Pkmyt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03278:Pkmyt1	APN	17	23,953,221 (GRCm39)	missense	probably damaging	1.00
R3977:Pkmyt1	UTSW	17	23,954,305 (GRCm39)	missense	probably benign
R4329:Pkmyt1	UTSW	17	23,951,709 (GRCm39)	missense	probably damaging	1.00
R5215:Pkmyt1	UTSW	17	23,951,566 (GRCm39)	missense	probably benign	0.02
R5992:Pkmyt1	UTSW	17	23,954,300 (GRCm39)	missense	probably benign	0.19
R6192:Pkmyt1	UTSW	17	23,953,167 (GRCm39)	missense	probably damaging	1.00
R6344:Pkmyt1	UTSW	17	23,951,730 (GRCm39)	missense	possibly damaging	0.82
R6358:Pkmyt1	UTSW	17	23,952,630 (GRCm39)	splice site	probably null
R7096:Pkmyt1	UTSW	17	23,953,087 (GRCm39)	missense	probably damaging	1.00
R8174:Pkmyt1	UTSW	17	23,952,813 (GRCm39)	missense	probably damaging	1.00
R8257:Pkmyt1	UTSW	17	23,953,148 (GRCm39)	missense	probably benign	0.00
R8391:Pkmyt1	UTSW	17	23,954,013 (GRCm39)	missense	probably damaging	1.00
R9532:Pkmyt1	UTSW	17	23,954,691 (GRCm39)	missense	probably benign
X0020:Pkmyt1	UTSW	17	23,951,734 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTCTGCAGGTACTTGTGGC -3'
(R):5'- TCATACCCAGGACTCTGCAG -3'

Sequencing Primer
(F):5'- AGGTACTTGTGGCCCACAC -3'
(R):5'- CTCTGAGGTCTCACACAGGAAAG -3'

Posted On

2018-03-15