Incidental Mutation 'IGL01701:Myl6'
ID104458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl6
Ensembl Gene ENSMUSG00000090841
Gene Namemyosin, light polypeptide 6, alkali, smooth muscle and non-muscle
SynonymsMLC3NM, MLC3nm, Myln
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.399) question?
Stock #IGL01701
Quality Score
Status
Chromosome10
Chromosomal Location128490860-128494145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 128492097 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 130 (A130V)
Ref Sequence ENSEMBL: ENSMUSP00000151693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000218127] [ENSMUST00000218228] [ENSMUST00000219236] [ENSMUST00000220307] [ENSMUST00000220427]
Predicted Effect probably benign
Transcript: ENSMUST00000026428
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 50 N/A INTRINSIC
EFh 67 95 5.08e-3 SMART
EFh 144 172 6.38e0 SMART
Blast:EFh 179 207 9e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000026433
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 4.9e-38 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
low complexity region 768 816 N/A INTRINSIC
low complexity region 861 879 N/A INTRINSIC
coiled coil region 906 921 N/A INTRINSIC
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1074 1098 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099131
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 3.9e-38 PFAM
SANT 628 676 9.04e-12 SMART
low complexity region 799 847 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
coiled coil region 937 952 N/A INTRINSIC
low complexity region 979 1013 N/A INTRINSIC
low complexity region 1016 1041 N/A INTRINSIC
low complexity region 1043 1093 N/A INTRINSIC
low complexity region 1105 1129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105235
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 426 512 4.5e-35 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
Pfam:SWIRM-assoc_3 684 750 4.1e-34 PFAM
low complexity region 768 816 N/A INTRINSIC
Pfam:SWIRM-assoc_1 863 946 1.5e-34 PFAM
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1077 1093 N/A INTRINSIC
low complexity region 1108 1123 N/A INTRINSIC
low complexity region 1153 1177 N/A INTRINSIC
low complexity region 1184 1212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164181
AA Change: A130V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841
AA Change: A130V

DomainStartEndE-ValueType
EFh 11 39 8.98e-4 SMART
EFh 88 116 3.64e1 SMART
EFh 123 151 6.63e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000217733
AA Change: A130V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000217776
AA Change: A130V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217913
Predicted Effect possibly damaging
Transcript: ENSMUST00000217969
AA Change: A118V

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000218127
AA Change: A130V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect probably benign
Transcript: ENSMUST00000218228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect probably benign
Transcript: ENSMUST00000219236
AA Change: A130V

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Coding Region Coverage
Validation Efficiency
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 heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Myl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0413:Myl6 UTSW 10 128492222 splice site probably benign
R2188:Myl6 UTSW 10 128492697 missense possibly damaging 0.91
Posted On2014-01-21