Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Myl3'

360720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myl3

Ensembl Gene

ENSMUSG00000059741

Gene Name

myosin, light polypeptide 3

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

110592746-110598870 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 110597059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 140 (E140*)

Ref Sequence

ENSEMBL: ENSMUSP00000142530 (fasta)

Gene Model

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

AlphaFold

P09542

Predicted Effect

probably null
Transcript: ENSMUST00000079784
AA Change: E140*

SMART Domains

Protein: ENSMUSP00000078715
Gene: ENSMUSG00000059741
AA Change: E140*

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 null
Transcript: ENSMUST00000124267
AA Change: E63*

SMART Domains

Protein: ENSMUSP00000142424
Gene: ENSMUSG00000059741
AA Change: E63*

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 null
Transcript: ENSMUST00000136695
AA Change: E63*

SMART Domains

Protein: ENSMUSP00000142791
Gene: ENSMUSG00000059741
AA Change: E63*

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 null
Transcript: ENSMUST00000200011
AA Change: E140*

SMART Domains

Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741
AA Change: E140*

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

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gjb5	C	T	4: 127,249,355 (GRCm39)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,021,033 (GRCm39)	S130P	probably damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or13a26	T	C	7: 140,285,046 (GRCm39)	L294P	probably damaging	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,339,588 (GRCm39)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly 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
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
R7059:Myl3	UTSW	9	110,571,105 (GRCm39)	splice site	probably benign

Posted On

2015-12-18