Incidental Mutation 'IGL02010:Myl9'
ID 183317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl9
Ensembl Gene ENSMUSG00000067818
Gene Name myosin, light polypeptide 9, regulatory
Synonyms Mylc2c, MLC20, RLC-C
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # IGL02010
Quality Score
Status
Chromosome 2
Chromosomal Location 156617373-156623578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156620579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 39 (N39Y)
Ref Sequence ENSEMBL: ENSMUSP00000085913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088552]
AlphaFold Q9CQ19
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
Abca6 T C 11: 110,110,442 (GRCm39) D569G probably benign Het
Abhd17b C T 19: 21,661,485 (GRCm39) T224I probably benign Het
Atf6b T A 17: 34,873,626 (GRCm39) S695R probably benign Het
Cdh6 A C 15: 13,034,276 (GRCm39) probably benign Het
Cep290 G T 10: 100,344,569 (GRCm39) C462F probably benign Het
Cep290 T C 10: 100,397,207 (GRCm39) S2156P probably benign Het
Cfap20dc A T 14: 8,578,384 (GRCm38) H119Q possibly damaging Het
Cit T C 5: 116,014,006 (GRCm39) F240L probably damaging Het
Col1a2 T A 6: 4,512,416 (GRCm39) probably null Het
Ctcf T A 8: 106,391,597 (GRCm39) H297Q probably damaging Het
Dhx29 T C 13: 113,103,168 (GRCm39) probably null Het
Dhx37 T G 5: 125,495,777 (GRCm39) T835P possibly damaging Het
Enc1 C T 13: 97,381,588 (GRCm39) L33F possibly damaging Het
Epyc T A 10: 97,485,563 (GRCm39) M1K probably null Het
F10 T C 8: 13,098,292 (GRCm39) I165T probably damaging Het
Fam124a T C 14: 62,824,728 (GRCm39) L74P probably damaging Het
Fam234b A G 6: 135,186,405 (GRCm39) S138G probably benign Het
Fam81a T C 9: 70,006,419 (GRCm39) K198E probably benign Het
Fbn2 T C 18: 58,170,794 (GRCm39) Y2199C probably damaging Het
Fign A C 2: 63,810,744 (GRCm39) S175R probably damaging Het
Grik1 T C 16: 87,848,396 (GRCm39) N124S possibly damaging Het
Hdac9 G T 12: 34,481,944 (GRCm39) L175M probably damaging Het
Hephl1 A C 9: 15,001,852 (GRCm39) Y163* probably null Het
Hes1 G A 16: 29,886,128 (GRCm39) G244D probably damaging Het
Hexb A G 13: 97,313,353 (GRCm39) L501P probably benign Het
Igkv5-43 T C 6: 69,752,936 (GRCm39) I49V probably benign Het
Ipo5 T C 14: 121,170,789 (GRCm39) S491P probably benign Het
Jakmip2 C T 18: 43,692,158 (GRCm39) probably null Het
Lrfn5 A G 12: 61,886,469 (GRCm39) T86A probably damaging Het
Lrp1b T C 2: 41,358,954 (GRCm39) T640A probably damaging Het
M6pr G T 6: 122,292,085 (GRCm39) R139L possibly damaging Het
Nlrp3 A G 11: 59,440,361 (GRCm39) D646G probably benign Het
Nlrp5 A T 7: 23,116,797 (GRCm39) M174L probably benign Het
Nnmt T A 9: 48,503,331 (GRCm39) I232F probably damaging Het
Nrg1 T C 8: 32,408,171 (GRCm39) T21A probably benign Het
Or5t15 C T 2: 86,681,541 (GRCm39) C167Y possibly damaging Het
Or6c65 A G 10: 129,604,136 (GRCm39) Y257C probably benign Het
Pcare T A 17: 72,056,459 (GRCm39) T1073S probably benign Het
Pcdh7 T G 5: 58,286,597 (GRCm39) N1224K probably benign Het
Pde4a T C 9: 21,114,850 (GRCm39) probably null Het
Pfkfb3 T C 2: 11,488,805 (GRCm39) T320A probably benign Het
Plekhm2 T C 4: 141,364,730 (GRCm39) probably benign Het
Rabgap1l C T 1: 160,299,641 (GRCm39) R584H probably damaging Het
Rnf157 T A 11: 116,287,052 (GRCm39) N57I probably damaging Het
Rtf1 G A 2: 119,531,747 (GRCm39) probably null Het
Sap130 C A 18: 31,782,655 (GRCm39) R189S probably damaging Het
Slc34a1 T G 13: 24,003,025 (GRCm39) V225G probably benign Het
Smg1 T C 7: 117,785,369 (GRCm39) probably benign Het
Tecta G A 9: 42,248,489 (GRCm39) T1971I probably damaging Het
Tlcd5 A T 9: 43,022,859 (GRCm39) V165E probably damaging Het
Tmem263 T A 10: 84,950,274 (GRCm39) S22T probably benign Het
Tnrc18 A T 5: 142,773,049 (GRCm39) F410L unknown Het
Ttc27 T G 17: 75,087,906 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,668 (GRCm39) C101S probably damaging Het
Wdr17 T C 8: 55,112,738 (GRCm39) K781E probably damaging Het
Xkr6 C T 14: 64,056,653 (GRCm39) T188M probably benign Het
Other mutations in Myl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02536:Myl9 APN 2 156,620,469 (GRCm39) missense probably damaging 1.00
R2679:Myl9 UTSW 2 156,622,426 (GRCm39) missense probably damaging 1.00
R5614:Myl9 UTSW 2 156,623,083 (GRCm39) utr 3 prime probably benign
R8354:Myl9 UTSW 2 156,623,048 (GRCm39) missense possibly damaging 0.63
R8454:Myl9 UTSW 2 156,623,048 (GRCm39) missense possibly damaging 0.63
X0010:Myl9 UTSW 2 156,622,498 (GRCm39) missense probably damaging 1.00
X0021:Myl9 UTSW 2 156,623,018 (GRCm39) missense possibly damaging 0.95
Posted On 2014-05-07