Incidental Mutation 'R7804:Myl4'
ID 600683
Institutional Source Beutler Lab
Gene Symbol Myl4
Ensembl Gene ENSMUSG00000061086
Gene Name myosin, light polypeptide 4
Synonyms MLC1a, Myla, ELC1a, ELC
MMRRC Submission 045859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R7804 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 104441489-104486579 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104475787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 167 (V167E)
Ref Sequence ENSEMBL: ENSMUSP00000018800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018800] [ENSMUST00000106956] [ENSMUST00000106957] [ENSMUST00000130588] [ENSMUST00000153761]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018800
AA Change: V167E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018800
Gene: ENSMUSG00000061086
AA Change: V167E

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 7.8e-5 PFAM
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000106956
AA Change: V167E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102569
Gene: ENSMUSG00000061086
AA Change: V167E

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 7.8e-5 PFAM
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000106957
AA Change: V167E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102570
Gene: ENSMUSG00000061086
AA Change: V167E

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
internal_repeat_1 50 113 1.4e-5 PROSPERO
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000130588
SMART Domains Protein: ENSMUSP00000122748
Gene: ENSMUSG00000061086

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136244
Predicted Effect probably damaging
Transcript: ENSMUST00000153761
AA Change: V167E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114345
Gene: ENSMUSG00000061086
AA Change: V167E

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 1.3e-4 PFAM
internal_repeat_1 129 187 1.33e-5 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (55/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTATGTGT GTGTGT 11: 43,478,241 (GRCm39) probably benign Het
Ago4 A T 4: 126,406,423 (GRCm39) C296S probably benign Het
Apbb1 A G 7: 105,215,807 (GRCm39) L401P probably damaging Het
Cacnb2 C A 2: 14,972,848 (GRCm39) P252T probably benign Het
Ctnna2 C T 6: 77,618,357 (GRCm39) V202I probably benign Het
Dapk1 A T 13: 60,873,153 (GRCm39) I352F probably benign Het
Dexi T C 16: 10,360,349 (GRCm39) D69G possibly damaging Het
Dlg5 T C 14: 24,215,388 (GRCm39) E645G possibly damaging Het
Dnah3 A G 7: 119,551,841 (GRCm39) I2826T probably damaging Het
Dnah3 A G 7: 119,610,235 (GRCm39) W1734R probably damaging Het
Dtna A G 18: 23,728,666 (GRCm39) K287R probably damaging Het
Elovl5 A G 9: 77,887,105 (GRCm39) probably null Het
Ess2 T A 16: 17,729,031 (GRCm39) I47F probably damaging Het
Fam222b C A 11: 78,044,979 (GRCm39) P180Q probably benign Het
Fat3 C T 9: 15,901,888 (GRCm39) V3046I probably benign Het
Fem1a A G 17: 56,565,068 (GRCm39) D387G probably damaging Het
Frmd5 A G 2: 121,422,225 (GRCm39) Y33H probably damaging Het
Gucy2g A T 19: 55,216,584 (GRCm39) L464H probably benign Het
Ints2 T C 11: 86,103,489 (GRCm39) E1189G possibly damaging Het
Itgb4 T C 11: 115,894,510 (GRCm39) V1355A probably damaging Het
Lepr A T 4: 101,639,783 (GRCm39) S750C probably damaging Het
Lingo1 T C 9: 56,526,798 (GRCm39) D603G probably benign Het
Map4k3 A C 17: 80,922,499 (GRCm39) V474G probably damaging Het
Naa25 T C 5: 121,562,652 (GRCm39) V478A probably benign Het
Neurl4 T A 11: 69,796,700 (GRCm39) L487H probably benign Het
Nkx2-9 C T 12: 56,658,917 (GRCm39) R99H probably damaging Het
Or4c110 C G 2: 88,831,855 (GRCm39) R259P unknown Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or6c76 A G 10: 129,612,091 (GRCm39) I103V probably benign Het
Pcdhga9 A G 18: 37,871,132 (GRCm39) I320M probably damaging Het
Pi15 T A 1: 17,695,137 (GRCm39) C251* probably null Het
Pkhd1l1 A T 15: 44,460,534 (GRCm39) K4248* probably null Het
Prkg1 C T 19: 30,556,032 (GRCm39) V625I probably benign Het
Prkg1 G A 19: 30,602,170 (GRCm39) A362V possibly damaging Het
Prol1 C T 5: 88,476,264 (GRCm39) T218I unknown Het
Ptpro G A 6: 137,376,599 (GRCm39) probably null Het
Rev3l T A 10: 39,699,481 (GRCm39) I1326K probably benign Het
Shank1 C A 7: 43,962,308 (GRCm39) R60S unknown Het
Slc24a2 A G 4: 86,909,774 (GRCm39) V648A probably damaging Het
Slc35d3 T C 10: 19,725,116 (GRCm39) T247A probably damaging Het
Specc1 C T 11: 62,096,223 (GRCm39) T895I probably damaging Het
Spta1 A G 1: 174,023,471 (GRCm39) E626G possibly damaging Het
Syngr2 C A 11: 117,703,401 (GRCm39) S72R possibly damaging Het
Synj2 T A 17: 6,069,809 (GRCm39) L490Q unknown Het
Tbc1d9 T C 8: 83,963,341 (GRCm39) L351P possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Themis3 G A 17: 66,862,605 (GRCm39) T451I probably benign Het
Tia1 T C 6: 86,401,364 (GRCm39) S146P probably benign Het
Tpp2 T A 1: 44,022,441 (GRCm39) N946K probably benign Het
Tpr A T 1: 150,308,310 (GRCm39) R1688S probably damaging Het
Trav12-1 A G 14: 53,775,988 (GRCm39) Q47R possibly damaging Het
Ttll9 G A 2: 152,844,278 (GRCm39) probably null Het
Ttn G A 2: 76,537,585 (GRCm39) T34781M possibly damaging Het
V1ra8 A G 6: 90,180,298 (GRCm39) Y167C probably damaging Het
Vegfb T C 19: 6,963,707 (GRCm39) D84G probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wdr26 A G 1: 181,010,387 (GRCm39) I554T probably damaging Het
Other mutations in Myl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Myl4 APN 11 104,468,279 (GRCm39) start codon destroyed probably null
IGL02225:Myl4 APN 11 104,471,228 (GRCm39) missense probably benign 0.00
R5820:Myl4 UTSW 11 104,474,806 (GRCm39) missense probably damaging 1.00
R8559:Myl4 UTSW 11 104,474,930 (GRCm39) missense possibly damaging 0.95
R8803:Myl4 UTSW 11 104,475,403 (GRCm39) missense probably damaging 1.00
R8926:Myl4 UTSW 11 104,476,572 (GRCm39) missense probably benign 0.03
R9005:Myl4 UTSW 11 104,468,384 (GRCm39) missense probably damaging 0.99
R9407:Myl4 UTSW 11 104,474,887 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACCTTACCACTGTGCTGTG -3'
(R):5'- AGCACCCAGTTAGAATCTGCC -3'

Sequencing Primer
(F):5'- GAGAGGCCTCAGAGCATATCC -3'
(R):5'- GTTAGAATCTGCCACAACCCATCTG -3'
Posted On 2019-11-26