Incidental Mutation 'IGL02536:Myl9'
ID297521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl9
Ensembl Gene ENSMUSG00000067818
Gene Namemyosin, light polypeptide 9, regulatory
SynonymsMylc2c, RLC-C, MLC20
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL02536
Quality Score
Status
Chromosome2
Chromosomal Location156775420-156781658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 156778549 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 2 (S2L)
Ref Sequence ENSEMBL: ENSMUSP00000085913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088552]
Predicted Effect probably damaging
Transcript: ENSMUST00000088552
AA Change: S2L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085913
Gene: ENSMUSG00000067818
AA Change: S2L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
EFh 33 61 1.26e-7 SMART
EFh 102 130 1.15e0 SMART
Blast:EFh 138 166 4e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145299
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,778,244 noncoding transcript Het
Abca8b C T 11: 109,981,748 R9H probably benign Het
Adamts8 T A 9: 30,962,072 S858T probably benign Het
Alg1 C T 16: 5,239,159 Q245* probably null Het
Ankmy1 T C 1: 92,886,188 Y423C probably damaging Het
Anp32a A T 9: 62,371,828 T55S probably damaging Het
Arhgef9 A C X: 95,058,837 V406G probably damaging Het
Bdkrb1 T C 12: 105,605,000 F275S possibly damaging Het
Card9 C T 2: 26,358,832 V102I possibly damaging Het
Ccdc130 A T 8: 84,260,616 Y109* probably null Het
Ccdc81 A T 7: 89,877,580 probably benign Het
Cd101 T A 3: 101,003,597 D915V probably damaging Het
Cdk10 A G 8: 123,227,015 D77G possibly damaging Het
Ctnnd1 T C 2: 84,605,196 T827A probably benign Het
Dspp A C 5: 104,175,665 T225P probably damaging Het
Evpl T C 11: 116,221,209 E1885G probably damaging Het
Fstl4 C T 11: 53,134,024 probably benign Het
Gm5930 T A 14: 44,337,558 N57I probably damaging Het
Gnl2 C T 4: 125,052,608 Q541* probably null Het
Igkv3-1 T C 6: 70,704,051 V78A probably benign Het
Inpp5a T C 7: 139,567,422 I321T probably benign Het
Kif20b T A 19: 34,974,559 S1746T probably benign Het
Lrrc8c T C 5: 105,607,172 I271T probably benign Het
Mrps10 T C 17: 47,375,003 Y152H probably damaging Het
Myof A T 19: 37,949,655 H870Q probably damaging Het
Nfatc4 A T 14: 55,829,910 I456F probably damaging Het
Notch2 A G 3: 98,102,407 H550R probably benign Het
Olfr113 T A 17: 37,574,926 I166F probably damaging Het
Olfr275 T A 4: 52,825,817 V140D possibly damaging Het
Olfr624 T A 7: 103,670,957 I25F possibly damaging Het
Olfr911-ps1 T C 9: 38,524,164 L144P probably damaging Het
P2rx1 A T 11: 73,012,474 I230F probably damaging Het
Pcnt A G 10: 76,380,229 V2275A possibly damaging Het
Pip5k1a G A 3: 95,064,396 T465I probably benign Het
Pnkd G A 1: 74,351,900 R415H probably damaging Het
Prdx4 T A X: 155,332,447 I132F probably damaging Het
Pvr A G 7: 19,918,792 M66T probably benign Het
Rnf216 A G 5: 143,080,240 I531T probably benign Het
Rps6ka4 A T 19: 6,832,071 F405Y probably damaging Het
Serpinb2 A G 1: 107,524,949 probably benign Het
Sfxn1 A G 13: 54,085,494 K12R probably benign Het
Slc17a7 A G 7: 45,170,946 E275G probably damaging Het
Tnpo2 A T 8: 85,045,067 I245F probably benign Het
Ush2a A T 1: 188,957,266 probably null Het
Zcchc4 C T 5: 52,808,316 R321W probably damaging Het
Other mutations in Myl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:Myl9 APN 2 156778659 missense probably damaging 0.99
R2679:Myl9 UTSW 2 156780506 missense probably damaging 1.00
R5614:Myl9 UTSW 2 156781163 utr 3 prime probably benign
R8354:Myl9 UTSW 2 156781128 missense possibly damaging 0.63
R8454:Myl9 UTSW 2 156781128 missense possibly damaging 0.63
X0010:Myl9 UTSW 2 156780578 missense probably damaging 1.00
X0021:Myl9 UTSW 2 156781098 missense possibly damaging 0.95
Posted On2015-04-16