Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Myl3'

40480

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

038304-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R0009 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

110592746-110598870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110596997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 119 (D119A)

Ref Sequence

ENSEMBL: ENSMUSP00000142530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079784] [ENSMUST00000124267] [ENSMUST00000136695] [ENSMUST00000200011]

AlphaFold

P09542

Predicted Effect

probably damaging
Transcript: ENSMUST00000079784
AA Change: D119A

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

SMART Domains

Protein: ENSMUSP00000078715
Gene: ENSMUSG00000059741
AA Change: D119A

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
internal_repeat_1	61	124	1.28e-5	PROSPERO
internal_repeat_1	140	198	1.28e-5	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000124267
AA Change: D42A

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

SMART Domains

Protein: ENSMUSP00000142424
Gene: ENSMUSG00000059741
AA Change: D42A

Domain	Start	End	E-Value	Type
SCOP:d1ggwa_	1	127	2e-23	SMART
PDB:1W7J\|B	2	126	3e-68	PDB
Blast:EFh	64	92	5e-12	BLAST
Blast:EFh	99	126	2e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000136695
AA Change: D42A

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

SMART Domains

Protein: ENSMUSP00000142791
Gene: ENSMUSG00000059741
AA Change: D42A

Domain	Start	End	E-Value	Type
SCOP:d1ggwa_	1	127	2e-23	SMART
PDB:1W7J\|B	2	126	3e-68	PDB
Blast:EFh	64	92	5e-12	BLAST
Blast:EFh	99	126	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153142

Predicted Effect

probably damaging
Transcript: ENSMUST00000200011
AA Change: D119A

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

SMART Domains

Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741
AA Change: D119A

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

Meta Mutation Damage Score

0.3993

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,380,103 (GRCm39)	V14E	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,746,636 (GRCm39)	P151S	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm39)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	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
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
R7059:Myl3	UTSW	9	110,571,105 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCAGGCGTTCCTAAGTAGACCATC -3'
(R):5'- GCCCTGTGGTCAAGTGACACAAAG -3'

Sequencing Primer
(F):5'- GTTCCTAAGTAGACCATCAGGGC -3'
(R):5'- GTCAAGTGACACAAAGGTTTCC -3'

Posted On

2013-05-23