Incidental Mutation 'IGL01730:Myl6b'
ID105432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl6b
Ensembl Gene ENSMUSG00000039824
Gene Namemyosin, light polypeptide 6B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL01730
Quality Score
Status
Chromosome10
Chromosomal Location128494157-128498685 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128496342 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 85 (Y85C)
Ref Sequence ENSEMBL: ENSMUSP00000026428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000218127] [ENSMUST00000219236] [ENSMUST00000220307] [ENSMUST00000220427]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026428
AA Change: Y85C

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: Y85C

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: ENSMUST00000218127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218250
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: ENSMUST00000219554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 35,962,239 E287G probably damaging Het
Bhmt A T 13: 93,625,409 V122E probably damaging Het
Camta1 A G 4: 151,062,845 I585T probably damaging Het
Cfap221 A G 1: 119,934,111 S645P probably benign Het
Derl1 A T 15: 57,892,147 F50Y possibly damaging Het
Dhrs3 T C 4: 144,919,472 S117P probably damaging Het
E2f8 A T 7: 48,877,934 probably benign Het
Fam46b A T 4: 133,486,522 probably null Het
Fbn1 A T 2: 125,312,974 probably benign Het
Fbxo15 A G 18: 84,964,174 I250M probably benign Het
Ghr A T 15: 3,320,584 S371T probably damaging Het
Gm5884 A T 6: 128,645,706 noncoding transcript Het
Grhl2 T C 15: 37,337,774 V496A probably benign Het
Gsap A G 5: 21,290,154 probably benign Het
Irak3 T C 10: 120,178,100 D148G probably benign Het
Itga2 A T 13: 114,854,411 probably benign Het
Kif13b T C 14: 64,750,361 probably null Het
Kif20b A T 19: 34,950,523 K1022* probably null Het
Klhl17 G T 4: 156,231,700 S399* probably null Het
Lcp2 A T 11: 34,050,943 D42V possibly damaging Het
Lin7c G T 2: 109,896,440 G145* probably null Het
Lrba A G 3: 86,741,424 D2493G possibly damaging Het
Mobp A G 9: 120,167,926 D41G probably damaging Het
Mycbp2 G A 14: 103,135,204 Q785* probably null Het
Nup133 G T 8: 123,938,233 H240N probably benign Het
Olfr1448 A C 19: 12,919,562 F249C probably damaging Het
Plk4 T C 3: 40,805,850 S394P probably benign Het
Prepl A G 17: 85,081,175 Y167H possibly damaging Het
Prkab1 A G 5: 116,021,492 L105P probably damaging Het
Ryr2 T A 13: 11,601,842 I3897L possibly damaging Het
Sema3c A G 5: 17,711,436 S469G probably benign Het
Serpinb3c T A 1: 107,273,184 S168C probably damaging Het
Snapc4 A T 2: 26,363,724 probably null Het
Sorcs2 A T 5: 36,047,809 M528K probably damaging Het
Spink10 T A 18: 62,651,745 probably null Het
Thsd7a C A 6: 12,554,981 Q301H probably benign Het
Tmem135 A T 7: 89,148,044 F335I possibly damaging Het
Tshr A T 12: 91,519,303 D217V possibly damaging Het
Ttyh1 G A 7: 4,125,721 V206M possibly damaging Het
Tusc3 T G 8: 39,164,839 *348G probably null Het
Vmn2r76 G A 7: 86,230,198 T298I probably benign Het
Wdr47 T C 3: 108,611,396 F67L probably damaging Het
Other mutations in Myl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Myl6b APN 10 128497341 unclassified probably benign
PIT4260001:Myl6b UTSW 10 128496306 missense possibly damaging 0.48
R1971:Myl6b UTSW 10 128494643 missense probably damaging 0.98
R5476:Myl6b UTSW 10 128497347 unclassified probably benign
R6361:Myl6b UTSW 10 128497209 nonsense probably null
R7149:Myl6b UTSW 10 128497199 critical splice donor site probably null
Posted On2014-01-21