Incidental Mutation 'R5476:Myl6b'
ID 434085
Institutional Source Beutler Lab
Gene Symbol Myl6b
Ensembl Gene ENSMUSG00000039824
Gene Name myosin, light polypeptide 6B
Synonyms 5730437E04Rik
MMRRC Submission 043037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5476 (G1)
Quality Score 183
Status Not validated
Chromosome 10
Chromosomal Location 128330026-128334554 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 128333216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000220307] [ENSMUST00000219236] [ENSMUST00000220427] [ENSMUST00000218127]
AlphaFold Q8CI43
Predicted Effect unknown
Transcript: ENSMUST00000026428
AA Change: V9M
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: V9M

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: ENSMUST00000164181
SMART Domains Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841

DomainStartEndE-ValueType
EFh 11 39 8.98e-4 SMART
EFh 88 116 3.64e1 SMART
EFh 123 151 6.63e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180477
Predicted Effect probably benign
Transcript: ENSMUST00000217733
Predicted Effect probably benign
Transcript: ENSMUST00000217776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217913
Predicted Effect probably benign
Transcript: ENSMUST00000217969
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
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 expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T G 7: 44,791,493 (GRCm39) N71H possibly damaging Het
Alg5 T A 3: 54,654,019 (GRCm39) S252T probably benign Het
Arhgap21 T C 2: 20,885,497 (GRCm39) N560S probably benign Het
Ccdc96 A G 5: 36,642,981 (GRCm39) D329G possibly damaging Het
Cep128 T C 12: 91,180,392 (GRCm39) E917G probably damaging Het
Cpox G C 16: 58,499,088 (GRCm39) V434L probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Ddx6 A G 9: 44,518,753 (GRCm39) R22G possibly damaging Het
Dgcr8 A T 16: 18,077,843 (GRCm39) Y597N probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock5 T C 14: 68,051,456 (GRCm39) D671G possibly damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Dop1b A G 16: 93,570,801 (GRCm39) probably null Het
Faim A G 9: 98,874,782 (GRCm39) R110G probably damaging Het
Grm4 A G 17: 27,653,772 (GRCm39) V726A probably benign Het
Hps1 T C 19: 42,758,041 (GRCm39) probably null Het
Lefty1 T C 1: 180,765,263 (GRCm39) M277T probably benign Het
Mmp9 A G 2: 164,794,414 (GRCm39) M469V probably benign Het
Mroh4 A T 15: 74,483,510 (GRCm39) I609N probably benign Het
Nt5m A G 11: 59,766,733 (GRCm39) D208G probably damaging Het
Pard3b G T 1: 62,049,565 (GRCm39) V108L probably benign Het
Pbp2 A G 6: 135,286,922 (GRCm39) S142P probably benign Het
Pbrm1 T A 14: 30,754,476 (GRCm39) D165E probably benign Het
Pde4b A G 4: 102,459,896 (GRCm39) K577R probably benign Het
Phf21b A G 15: 84,671,466 (GRCm39) M476T probably benign Het
Prr14l T C 5: 33,001,482 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,289,356 (GRCm39) V282A probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Slc25a12 A G 2: 71,105,666 (GRCm39) S623P probably benign Het
Smc1b A T 15: 84,970,352 (GRCm39) I967N probably damaging Het
Snx13 A G 12: 35,156,819 (GRCm39) probably null Het
Spata2 A T 2: 167,326,079 (GRCm39) S247T probably damaging Het
Stpg2 T A 3: 138,948,899 (GRCm39) Y232N probably benign Het
Tor3a G T 1: 156,501,137 (GRCm39) S100R possibly damaging Het
Trappc8 A G 18: 20,998,165 (GRCm39) F385S probably damaging Het
Uggt2 T A 14: 119,328,121 (GRCm39) T134S probably benign Het
Vmn1r175 C T 7: 23,508,556 (GRCm39) V24I possibly damaging Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zfp157 T G 5: 138,455,443 (GRCm39) V547G possibly damaging Het
Zfp442 A T 2: 150,250,079 (GRCm39) C551S probably damaging Het
Other mutations in Myl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Myl6b APN 10 128,332,211 (GRCm39) missense possibly damaging 0.54
IGL02257:Myl6b APN 10 128,333,210 (GRCm39) unclassified probably benign
PIT4260001:Myl6b UTSW 10 128,332,175 (GRCm39) missense possibly damaging 0.48
R1971:Myl6b UTSW 10 128,330,512 (GRCm39) missense probably damaging 0.98
R6361:Myl6b UTSW 10 128,333,078 (GRCm39) nonsense probably null
R7149:Myl6b UTSW 10 128,333,068 (GRCm39) critical splice donor site probably null
R7540:Myl6b UTSW 10 128,332,149 (GRCm39) nonsense probably null
R8221:Myl6b UTSW 10 128,333,209 (GRCm39) missense unknown
R9435:Myl6b UTSW 10 128,331,066 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GCACCGCATCTCTGAACTATCC -3'
(R):5'- AGTCCTGAACCATAGGAGGC -3'

Sequencing Primer
(F):5'- TGAACTATCCCTTCCAGATTCACAC -3'
(R):5'- CTGAACCATAGGAGGCCAGGG -3'
Posted On 2016-10-06