Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Myl3'

44292

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

038368-MU

Accession Numbers

Essential gene?

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

Stock #

R0081 (G1)

Quality Score

186

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: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,703 (GRCm39)	D485G	probably damaging	Het
Adamts19	T	C	18: 59,036,137 (GRCm39)		probably null	Het
Adgrd1	A	T	5: 129,255,146 (GRCm39)	I598F	probably damaging	Het
Adh5	A	G	3: 138,157,174 (GRCm39)	D245G	probably benign	Het
Adra2b	T	C	2: 127,206,212 (GRCm39)	V238A	probably benign	Het
Ank1	G	A	8: 23,606,258 (GRCm39)	V1188I	possibly damaging	Het
Asap1	C	T	15: 63,971,413 (GRCm39)	G905D	probably damaging	Het
AW554918	T	C	18: 25,477,959 (GRCm39)	V428A	probably benign	Het
Birc6	T	A	17: 74,950,436 (GRCm39)	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280 (GRCm39)		probably benign	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Dcaf17	T	A	2: 70,908,812 (GRCm39)		probably benign	Het
Dclre1a	A	G	19: 56,531,139 (GRCm39)	F736L	probably damaging	Het
Ddx41	A	T	13: 55,683,193 (GRCm39)	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,895,257 (GRCm39)	Q1258K	probably benign	Het
Dock10	T	C	1: 80,584,295 (GRCm39)	D137G	probably damaging	Het
Dpyd	G	A	3: 118,737,904 (GRCm39)	V482I	probably benign	Het
Erich6	A	T	3: 58,543,547 (GRCm39)		probably benign	Het
Fam193b	A	G	13: 55,702,024 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,405,643 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,577,252 (GRCm39)		probably null	Het
Gas2l2	A	G	11: 83,313,693 (GRCm39)	S540P	possibly damaging	Het
Glis2	T	C	16: 4,431,517 (GRCm39)	V348A	probably benign	Het
Gm14443	C	A	2: 175,011,729 (GRCm39)	G239V	probably damaging	Het
Gpr158	T	C	2: 21,831,528 (GRCm39)	V876A	probably damaging	Het
H1f8	A	G	6: 115,926,942 (GRCm39)	E273G	probably benign	Het
Hadh	C	T	3: 131,029,285 (GRCm39)	D245N	probably damaging	Het
Hk2	A	T	6: 82,711,957 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,767,163 (GRCm39)	Y108*	probably null	Het
Il10ra	T	G	9: 45,167,247 (GRCm39)	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,521,973 (GRCm39)		probably null	Het
Kank4	G	T	4: 98,666,567 (GRCm39)	P627T	probably benign	Het
Kif16b	A	G	2: 142,549,346 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,054,376 (GRCm39)	I205V	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myh1	T	C	11: 67,106,683 (GRCm39)	M1255T	probably benign	Het
Myo1d	T	G	11: 80,448,349 (GRCm39)	K925N	probably benign	Het
Myoz1	T	A	14: 20,699,622 (GRCm39)	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nf1	C	A	11: 79,344,805 (GRCm39)		probably benign	Het
Npepl1	C	T	2: 173,957,879 (GRCm39)	P239S	probably damaging	Het
Olfml1	A	G	7: 107,170,506 (GRCm39)	K131R	probably benign	Het
Or12k5	G	A	2: 36,895,462 (GRCm39)	L55F	probably damaging	Het
Or1e29	A	G	11: 73,667,935 (GRCm39)	F73L	possibly damaging	Het
Or1j15	T	A	2: 36,458,893 (GRCm39)	Y94*	probably null	Het
Or1j20	T	C	2: 36,760,022 (GRCm39)	L148S	possibly damaging	Het
Or4c10	T	A	2: 89,760,423 (GRCm39)	I90K	possibly damaging	Het
Or4f7	A	C	2: 111,644,213 (GRCm39)	I286S	probably damaging	Het
Or5p52	C	T	7: 107,502,212 (GRCm39)	T96I	probably benign	Het
Or6c202	C	T	10: 128,996,707 (GRCm39)	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,295,697 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,903,519 (GRCm39)	C591R	probably benign	Het
Pkn2	T	G	3: 142,559,343 (GRCm39)	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,058,711 (GRCm39)	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,644,958 (GRCm39)	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,895,567 (GRCm39)	N440K	possibly damaging	Het
Rbm34	T	A	8: 127,676,234 (GRCm39)	K340N	probably damaging	Het
Samd3	T	C	10: 26,147,399 (GRCm39)		probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sigirr	T	C	7: 140,671,285 (GRCm39)	D399G	probably damaging	Het
Slc17a7	A	G	7: 44,824,371 (GRCm39)	E554G	probably benign	Het
Smc3	A	G	19: 53,589,993 (GRCm39)		probably benign	Het
Tdrd1	T	C	19: 56,819,703 (GRCm39)	Y68H	probably benign	Het
Tespa1	T	A	10: 130,196,719 (GRCm39)	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,740,673 (GRCm39)	S436G	probably benign	Het
Ttn	T	A	2: 76,581,423 (GRCm39)	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,401,044 (GRCm39)	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,572,235 (GRCm39)	D532V	probably benign	Het
Vwa8	C	A	14: 79,320,222 (GRCm39)	L1078I	probably benign	Het
Vwce	A	T	19: 10,641,453 (GRCm39)		probably null	Het
Zpr1	A	G	9: 46,190,995 (GRCm39)	D300G	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
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
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

2013-06-11