Incidental Mutation 'R2230:Myl3'
ID 240002
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 040231-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R2230 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110592746-110598870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110596979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
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: L113P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078715
Gene: ENSMUSG00000059741
AA Change: L113P

DomainStartEndE-ValueType
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: L36P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142424
Gene: ENSMUSG00000059741
AA Change: L36P

DomainStartEndE-ValueType
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: L36P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142791
Gene: ENSMUSG00000059741
AA Change: L36P

DomainStartEndE-ValueType
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: L113P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142530
Gene: ENSMUSG00000059741
AA Change: L113P

DomainStartEndE-ValueType
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 0.1508 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,521,347 (GRCm39) N280K probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,340 (GRCm39) K53R probably benign Het
Atr A G 9: 95,802,818 (GRCm39) R1827G probably damaging Het
Ccdc61 T C 7: 18,625,032 (GRCm39) E502G probably damaging Het
Ccn2 T A 10: 24,472,371 (GRCm39) M138K possibly damaging Het
Cdon T C 9: 35,403,222 (GRCm39) probably null Het
Cyp2c68 T A 19: 39,687,804 (GRCm39) S398C probably benign Het
Cyp2e1 T C 7: 140,344,827 (GRCm39) S98P probably damaging Het
Dock2 T A 11: 34,244,323 (GRCm39) I1036F probably damaging Het
Entpd7 T C 19: 43,710,255 (GRCm39) V304A probably benign Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
F2 T C 2: 91,456,102 (GRCm39) D553G probably benign Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Gm10650 A G 3: 127,833,412 (GRCm39) noncoding transcript Het
Gm21850 G T 2: 153,900,248 (GRCm39) V202L probably benign Het
Hdc T A 2: 126,435,938 (GRCm39) E644D possibly damaging Het
Hypk G A 2: 121,287,773 (GRCm39) probably null Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
Mgll G A 6: 88,802,714 (GRCm39) V318M possibly damaging Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Musk A T 4: 58,333,672 (GRCm39) I256F possibly damaging Het
Myo5c A G 9: 75,180,888 (GRCm39) D759G probably benign Het
Nkx2-1 G A 12: 56,580,071 (GRCm39) Q290* probably null Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Or7g16 A G 9: 18,727,021 (GRCm39) S190P probably damaging Het
Or8c13 T C 9: 38,091,442 (GRCm39) T226A probably benign Het
Pabpc2 G A 18: 39,908,123 (GRCm39) V463I probably benign Het
Piezo2 A T 18: 63,278,143 (GRCm39) C254S probably damaging Het
Plxnd1 C A 6: 115,941,105 (GRCm39) R1302L probably damaging Het
Pnpla7 T C 2: 24,941,610 (GRCm39) probably benign Het
Ppl G A 16: 4,906,845 (GRCm39) T1150I possibly damaging Het
Prkag2 G T 5: 25,113,362 (GRCm39) A113E probably benign Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Sec14l5 A G 16: 4,994,345 (GRCm39) T380A probably damaging Het
Snw1 A G 12: 87,499,428 (GRCm39) V391A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sspo C A 6: 48,477,437 (GRCm39) Q5123K probably benign Het
Tbc1d21 A C 9: 58,270,363 (GRCm39) N137K probably damaging Het
Tek G A 4: 94,699,573 (GRCm39) C317Y probably damaging Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Topbp1 T A 9: 103,223,047 (GRCm39) I1377N probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttf2 A G 3: 100,865,260 (GRCm39) V544A probably damaging Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Ugt2b38 A G 5: 87,569,527 (GRCm39) F267L probably benign Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Vwa8 T C 14: 79,329,843 (GRCm39) probably null Het
Zfp708 A T 13: 67,219,036 (GRCm39) Y229* probably null Het
Zzef1 T A 11: 72,775,242 (GRCm39) M1745K probably damaging Het
Other mutations in Myl3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACCAGGCGTTCCTAAGTAGACC -3'
(R):5'- TTCCCTAGGACATCCCAGAG -3'

Sequencing Primer
(F):5'- CGTTCCTAAGTAGACCATCAGGG -3'
(R):5'- AGGAGAAGGCTGTCCTCAC -3'
Posted On 2014-10-15