Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Myl3'

548131

Institutional Source

Beutler Lab

Gene Symbol

Myl3

Ensembl Gene

ENSMUSG00000059741

Gene Name

myosin, light polypeptide 3

Synonyms

slow skeletal, alkali, Mylc, MLC1s, ventricular, MLC1v

MMRRC Submission

045156-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110592746-110598870 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 110571105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199791] [ENSMUST00000199862] [ENSMUST00000200011]

AlphaFold

P09542

Predicted Effect

probably benign
Transcript: ENSMUST00000006005

SMART Domains

Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	3.5e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166716

SMART Domains

Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	9.2e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196057

SMART Domains

Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
HormR	104	179	7.8e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198865

SMART Domains

Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
HormR	104	179	1.28e-25	SMART
Pfam:7tm_2	184	455	3.5e-89	PFAM
low complexity region	509	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199791

SMART Domains

Protein: ENSMUSP00000142957
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199862

SMART Domains

Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

Domain	Start	End	E-Value	Type
HormR	98	173	7.8e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200011

SMART Domains

Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
Pfam:EF-hand_6	62	93	4.7e-3	PFAM
internal_repeat_1	140	182	5.24e-5	PROSPERO

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,509 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,020,971 (GRCm39)	T5A	probably benign	Het
Abraxas1	T	C	5: 100,954,103 (GRCm39)	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,468,295 (GRCm39)	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,492,127 (GRCm39)	T125S	probably benign	Het
Asah1	A	T	8: 41,800,106 (GRCm39)	N169K	probably damaging	Het
Atl3	A	G	19: 7,511,333 (GRCm39)	N515D	probably benign	Het
Atl3	A	C	19: 7,511,334 (GRCm39)	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,339,005 (GRCm39)	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,081,813 (GRCm39)	I134K	probably damaging	Het
Brd10	T	A	19: 29,696,945 (GRCm39)	E849D	probably benign	Het
Btbd10	C	T	7: 112,929,129 (GRCm39)	R159H	probably damaging	Het
Chmp6	T	C	11: 119,806,866 (GRCm39)	F7L	probably damaging	Het
Colq	C	A	14: 31,247,991 (GRCm39)	C409F	probably damaging	Het
Cpox	T	A	16: 58,491,290 (GRCm39)	V167E	probably damaging	Het
Cul3	T	C	1: 80,254,141 (GRCm39)	Y545C	probably benign	Het
Dqx1	C	T	6: 83,041,790 (GRCm39)	A544V	probably benign	Het
Dzip3	A	G	16: 48,801,305 (GRCm39)	I73T	probably benign	Het
Epha3	T	A	16: 63,388,818 (GRCm39)	Y810F	probably damaging	Het
Esp36	A	T	17: 38,727,942 (GRCm39)	I113N	unknown	Het
Fbxw17	T	A	13: 50,586,584 (GRCm39)	W429R	probably damaging	Het
Fcrl2	A	T	3: 87,164,647 (GRCm39)	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,118,975 (GRCm39)	L148H	probably benign	Het
Gpr39	C	A	1: 125,605,696 (GRCm39)	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,935,017 (GRCm39)	E1662G	probably damaging	Het
Hgfac	T	A	5: 35,201,773 (GRCm39)	L302Q	possibly damaging	Het
Itih1	G	A	14: 30,653,266 (GRCm39)	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,524,075 (GRCm39)	I372V	probably benign	Het
Kcnk1	T	A	8: 126,756,466 (GRCm39)	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,981 (GRCm39)	I115F	probably damaging	Het
Kif1a	C	T	1: 92,974,551 (GRCm39)		probably benign	Het
Lcn2	T	A	2: 32,277,608 (GRCm39)	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,166,355 (GRCm39)	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,909,312 (GRCm39)	I55V	probably benign	Het
Mapk9	T	C	11: 49,757,874 (GRCm39)		probably null	Het
Mrpl18	A	G	17: 13,132,668 (GRCm39)	S154P	possibly damaging	Het
Mst1	C	A	9: 107,961,263 (GRCm39)	H524Q	probably benign	Het
Mtpap	T	C	18: 4,396,202 (GRCm39)	L498P	probably damaging	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Mzf1	G	T	7: 12,786,985 (GRCm39)	S28R	probably damaging	Het
Olfm1	T	C	2: 28,112,628 (GRCm39)	S205P	probably damaging	Het
Or52e8	A	T	7: 104,625,224 (GRCm39)		probably null	Het
Prrc2a	G	A	17: 35,376,364 (GRCm39)	P809S	probably damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rbm48	A	T	5: 3,640,625 (GRCm39)	C251*	probably null	Het
Rxfp1	A	T	3: 79,559,576 (GRCm39)	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,183,257 (GRCm39)	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,000,090 (GRCm39)	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc38a4	G	T	15: 96,906,895 (GRCm39)	S281*	probably null	Het
Syne1	A	T	10: 5,296,859 (GRCm39)	S1201T	probably damaging	Het
Tex15	C	A	8: 34,064,758 (GRCm39)	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,764,641 (GRCm39)		probably null	Het

Other mutations in Myl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Myl3	APN	9	110,595,557 (GRCm39)	missense	possibly damaging	0.95
IGL01292:Myl3	APN	9	110,597,045 (GRCm39)	missense	probably damaging	1.00
IGL02814:Myl3	APN	9	110,597,059 (GRCm39)	nonsense	probably null
R0009:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0010:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0015:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0040:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0045:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0045:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0080:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0081:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0095:Myl3	UTSW	9	110,596,997 (GRCm39)	missense	probably damaging	1.00
R0194:Myl3	UTSW	9	110,598,189 (GRCm39)	missense	probably benign	0.00
R1938:Myl3	UTSW	9	110,595,802 (GRCm39)	missense	probably damaging	1.00
R2230:Myl3	UTSW	9	110,596,979 (GRCm39)	missense	probably damaging	1.00
R2231:Myl3	UTSW	9	110,596,979 (GRCm39)	missense	probably damaging	1.00
R2315:Myl3	UTSW	9	110,595,809 (GRCm39)	missense	probably damaging	1.00
R3884:Myl3	UTSW	9	110,597,027 (GRCm39)	missense	probably damaging	1.00
R5473:Myl3	UTSW	9	110,597,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCGCAGTGTGTGATACTC -3'
(R):5'- AGTGCTCAGCTCCGCATATG -3'

Sequencing Primer
(F):5'- TGTGATACTCCACACCCAGAAC -3'
(R):5'- GCATATGCGCTGGTAAGTCTCTC -3'

Posted On

2019-05-13