Incidental Mutation 'R5614:Myl9'
ID 490463
Institutional Source Beutler Lab
Gene Symbol Myl9
Ensembl Gene ENSMUSG00000067818
Gene Name myosin, light polypeptide 9, regulatory
Synonyms Mylc2c, MLC20, RLC-C
MMRRC Submission 043275-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R5614 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156617373-156623578 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 156623083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088552]
AlphaFold Q9CQ19
Predicted Effect probably benign
Transcript: ENSMUST00000088552
SMART Domains Protein: ENSMUSP00000085913
Gene: ENSMUSG00000067818

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,132 (GRCm39) V1712A probably damaging Het
Ankmy2 T C 12: 36,243,783 (GRCm39) S333P probably damaging Het
Arfrp1 A G 2: 181,001,236 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,719,493 (GRCm39) T21A probably benign Het
Bud23 C A 5: 135,087,966 (GRCm39) A152S probably benign Het
Cant1 T C 11: 118,299,569 (GRCm39) D260G probably benign Het
Ces1b T C 8: 93,794,836 (GRCm39) I254M probably benign Het
Ces1d T C 8: 93,902,832 (GRCm39) T375A probably benign Het
Cfap54 A G 10: 92,880,911 (GRCm39) L384P probably damaging Het
Chrne C T 11: 70,505,879 (GRCm39) V469I possibly damaging Het
Clspn A G 4: 126,474,755 (GRCm39) E968G probably damaging Het
Col5a3 A G 9: 20,694,772 (GRCm39) probably benign Het
Dtx4 T C 19: 12,459,547 (GRCm39) Y419C probably damaging Het
Fam171b T A 2: 83,643,217 (GRCm39) I42N probably damaging Het
Fam43a T C 16: 30,420,490 (GRCm39) I358T possibly damaging Het
Fasn T C 11: 120,704,154 (GRCm39) S1422G probably benign Het
Fig4 A T 10: 41,148,981 (GRCm39) V157E probably damaging Het
Fus T C 7: 127,573,543 (GRCm39) probably benign Het
Hmcn2 G T 2: 31,318,315 (GRCm39) V3887F probably damaging Het
Hmgcll1 A G 9: 75,988,675 (GRCm39) Y182C probably damaging Het
Hook2 T A 8: 85,729,137 (GRCm39) I585N probably damaging Het
Iars2 T C 1: 185,021,705 (GRCm39) T866A probably benign Het
Iqca1l G A 5: 24,755,140 (GRCm39) A330V probably benign Het
Lrit1 T A 14: 36,783,911 (GRCm39) M413K probably benign Het
Nelfa A T 5: 34,077,844 (GRCm39) L179Q probably damaging Het
Nod2 A T 8: 89,390,824 (GRCm39) D355V probably damaging Het
Npbwr1 A T 1: 5,987,030 (GRCm39) S161R probably damaging Het
Nxpe2 A T 9: 48,234,401 (GRCm39) F289I probably benign Het
Odf2 A G 2: 29,810,879 (GRCm39) I538M probably damaging Het
Osbpl6 T A 2: 76,398,453 (GRCm39) V379E probably damaging Het
Pkhd1 A G 1: 20,143,750 (GRCm39) C3859R possibly damaging Het
Rgs1 G T 1: 144,121,995 (GRCm39) T99N probably benign Het
Rnf6 T C 5: 146,154,910 (GRCm39) probably null Het
Rtp1 C A 16: 23,249,940 (GRCm39) Q102K possibly damaging Het
Sec24c T A 14: 20,732,806 (GRCm39) V123E possibly damaging Het
Serpini2 T C 3: 75,165,014 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,636,638 (GRCm39) probably benign Het
Tecta A G 9: 42,250,351 (GRCm39) S1809P probably damaging Het
Tgfb2 T A 1: 186,357,710 (GRCm39) I394F probably benign Het
Thg1l T C 11: 45,841,054 (GRCm39) Y175C possibly damaging Het
Tmem67 C A 4: 12,061,755 (GRCm39) K572N possibly damaging Het
Tollip T C 7: 141,445,825 (GRCm39) T19A probably damaging Het
Ttn A G 2: 76,542,451 (GRCm39) Y25185H probably damaging Het
Vgll2 A T 10: 51,901,318 (GRCm39) R83* probably null Het
Wfdc8 G T 2: 164,445,123 (GRCm39) A164E probably damaging Het
Ylpm1 T C 12: 85,111,718 (GRCm39) probably benign Het
Zfp326 T A 5: 106,036,361 (GRCm39) S91T probably damaging Het
Zfp638 T C 6: 83,906,623 (GRCm39) F263L probably damaging Het
Zfp800 G A 6: 28,243,135 (GRCm39) T610I probably damaging Het
Zmym4 A G 4: 126,804,729 (GRCm39) F475L possibly damaging Het
Other mutations in Myl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:Myl9 APN 2 156,620,579 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AGCCTGCAGTCATTAACCCAG -3'
(R):5'- TAGGGTCAGAGATCCCTTCTAG -3'

Sequencing Primer
(F):5'- GCAGTCATTAACCCAGTCGTG -3'
(R):5'- GTCAGAGATCCCTTCTAGTTAGTGC -3'
Posted On 2017-10-11