Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Myl3'

15566

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

038334-MU

Accession Numbers

Essential gene?

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

Stock #

R0040 (G1)

Quality Score

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: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,622,165 (GRCm39)	L356R	possibly damaging	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Arpp21	T	C	9: 111,976,477 (GRCm39)		probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Cacng5	A	T	11: 107,775,336 (GRCm39)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,822,429 (GRCm39)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,497,212 (GRCm39)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,677,114 (GRCm39)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gucy2g	T	A	19: 55,205,734 (GRCm39)	T709S	possibly damaging	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kri1	T	C	9: 21,192,401 (GRCm39)	Y131C	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lox	A	T	18: 52,653,898 (GRCm39)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,496,320 (GRCm39)	H317R	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Pira6	A	G	7: 4,284,482 (GRCm39)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,437,021 (GRCm39)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rnf168	T	A	16: 32,096,991 (GRCm39)		probably null	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Scara5	C	T	14: 66,000,166 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zfp867	C	T	11: 59,354,691 (GRCm39)	A213T	possibly damaging	Het
Zkscan3	A	T	13: 21,579,090 (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
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

Posted On

2012-12-21