Incidental Mutation 'IGL02010:Myl9'
ID183317
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 essential (E-score: 0.511) question?
Stock #IGL02010
Quality Score
Status
Chromosome2
Chromosomal Location156775420-156781658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 156778659 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 39 (N39Y)
Ref Sequence ENSEMBL: ENSMUSP00000085913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088552]
Predicted Effect probably damaging
Transcript: ENSMUST00000088552
AA Change: N39Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085913
Gene: ENSMUSG00000067818
AA Change: N39Y

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M probably benign Het
Other mutations in Myl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02536:Myl9 APN 2 156778549 missense probably damaging 1.00
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 On2014-05-07