Mutagenetix > Incidental Mutations

Incidental Mutation 'R8029:Mylk2'

617804

Institutional Source

Beutler Lab

Gene Symbol

Mylk2

Ensembl Gene

ENSMUSG00000027470

Gene Name

myosin, light polypeptide kinase 2, skeletal muscle

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152911352-152923068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152920299 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 497 (S497P)

Ref Sequence

ENSEMBL: ENSMUSP00000028970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028970]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028970
AA Change: S497P

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

SMART Domains

Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: S497P

Domain	Start	End	E-Value	Type
low complexity region	90	122	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	278	285	N/A	INTRINSIC
S_TKc	302	557	6.08e-87	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	probably damaging	Het

Other mutations in Mylk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Mylk2	APN	2	152915214	missense	probably benign	0.20
IGL02097:Mylk2	APN	2	152915136	missense	probably damaging	0.98
IGL02158:Mylk2	APN	2	152919157	missense	probably damaging	1.00
IGL02189:Mylk2	APN	2	152915154	missense	probably damaging	1.00
IGL02243:Mylk2	APN	2	152920553	missense	probably damaging	1.00
IGL02716:Mylk2	APN	2	152922153	makesense	probably null
IGL02946:Mylk2	APN	2	152919210	nonsense	probably null
IGL03105:Mylk2	APN	2	152917359	missense	possibly damaging	0.94
R1184:Mylk2	UTSW	2	152913741	critical splice donor site	probably null
R1443:Mylk2	UTSW	2	152919416	missense	probably damaging	1.00
R1957:Mylk2	UTSW	2	152917607	missense	possibly damaging	0.86
R2496:Mylk2	UTSW	2	152913668	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152919348	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152919348	missense	probably damaging	1.00
R3081:Mylk2	UTSW	2	152919354	missense	probably benign	0.31
R4510:Mylk2	UTSW	2	152917410	missense	probably damaging	1.00
R4511:Mylk2	UTSW	2	152917410	missense	probably damaging	1.00
R4600:Mylk2	UTSW	2	152917556	missense	probably damaging	1.00
R4633:Mylk2	UTSW	2	152917415	missense	probably benign	0.00
R4890:Mylk2	UTSW	2	152920354	missense	possibly damaging	0.88
R5267:Mylk2	UTSW	2	152913549	missense	probably benign
R5430:Mylk2	UTSW	2	152917548	missense	probably damaging	1.00
R5447:Mylk2	UTSW	2	152912510	missense	probably damaging	0.96
R6167:Mylk2	UTSW	2	152915753	splice site	probably null
R6327:Mylk2	UTSW	2	152913693	missense	possibly damaging	0.77
R6391:Mylk2	UTSW	2	152917395	missense	probably damaging	1.00
R6913:Mylk2	UTSW	2	152913690	missense	possibly damaging	0.76
R7066:Mylk2	UTSW	2	152911668	splice site	probably null
R7092:Mylk2	UTSW	2	152915190	missense	probably benign	0.21
R7403:Mylk2	UTSW	2	152917341	missense	probably damaging	1.00
R7442:Mylk2	UTSW	2	152911426	start gained	probably benign
R7443:Mylk2	UTSW	2	152911426	start gained	probably benign
R7453:Mylk2	UTSW	2	152912433	missense	probably damaging	1.00
R7477:Mylk2	UTSW	2	152920341	missense	probably damaging	1.00
R7529:Mylk2	UTSW	2	152915704	missense	probably damaging	1.00
Z1177:Mylk2	UTSW	2	152920330	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCACCCTGGGGCAGATC -3'
(R):5'- TCCTAGAACATACAGGGTCCC -3'

Sequencing Primer
(F):5'- TTCACTGCAACCCTGGGAAG -3'
(R):5'- ATACAGGGTCCCCAGCC -3'

Posted On

2020-01-23