Incidental Mutation 'IGL02257:Myl6b'
ID 286629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl6b
Ensembl Gene ENSMUSG00000039824
Gene Name myosin, light polypeptide 6B
Synonyms 5730437E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02257
Quality Score
Status
Chromosome 10
Chromosomal Location 128330026-128334554 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 128333210 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: K11E
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: K11E

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 noncoding transcript
Transcript: ENSMUST00000219100
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218813
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,486,535 (GRCm39) Q25* probably null Het
Adam8 A T 7: 139,567,561 (GRCm39) V394D possibly damaging Het
Ahnak2 A G 12: 112,748,905 (GRCm39) F314S possibly damaging Het
Arsg T C 11: 109,412,473 (GRCm39) probably benign Het
Atp13a2 T G 4: 140,733,400 (GRCm39) V958G probably benign Het
Ces5a T C 8: 94,252,226 (GRCm39) D218G probably benign Het
Cntnap4 T A 8: 113,343,126 (GRCm39) L63Q probably damaging Het
Cped1 A G 6: 22,145,606 (GRCm39) T655A possibly damaging Het
Ddc A T 11: 11,823,171 (GRCm39) L133* probably null Het
Fat4 C T 3: 39,055,288 (GRCm39) A4169V probably benign Het
Gnpat T C 8: 125,613,587 (GRCm39) probably benign Het
Gpd2 A G 2: 57,254,536 (GRCm39) D678G probably benign Het
Hk1 T C 10: 62,107,422 (GRCm39) D851G probably benign Het
Hsd11b2 G A 8: 106,249,854 (GRCm39) V322I probably benign Het
Hsd17b3 G A 13: 64,207,276 (GRCm39) T255M probably benign Het
Hsp90b1 T C 10: 86,534,453 (GRCm39) S284G probably damaging Het
Med1 T A 11: 98,071,096 (GRCm39) I69L probably damaging Het
Mmut C T 17: 41,249,625 (GRCm39) T200I possibly damaging Het
Morn3 T G 5: 123,175,788 (GRCm39) D200A probably damaging Het
Mtss1 A G 15: 58,828,394 (GRCm39) V173A probably damaging Het
Nin A G 12: 70,149,465 (GRCm39) V48A possibly damaging Het
Odr4 A T 1: 150,262,155 (GRCm39) I95N probably damaging Het
Or10w1 G A 19: 13,632,629 (GRCm39) V279I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Phlpp2 T A 8: 110,646,731 (GRCm39) V529E possibly damaging Het
Pnlip G A 19: 58,662,306 (GRCm39) V151I probably benign Het
Pus7 A C 5: 23,967,459 (GRCm39) H247Q probably damaging Het
Setd6 T C 8: 96,443,320 (GRCm39) Y188H probably damaging Het
Siglecg T C 7: 43,061,328 (GRCm39) S444P probably benign Het
Sox9 C A 11: 112,675,811 (GRCm39) H333Q possibly damaging Het
Specc1 T A 11: 62,009,243 (GRCm39) I333N probably damaging Het
Tmprss11e G A 5: 86,872,039 (GRCm39) T59I probably damaging Het
Vmn2r93 A C 17: 18,545,770 (GRCm39) probably benign Het
Vrk2 A T 11: 26,484,266 (GRCm39) V163D probably damaging Het
Other mutations in Myl6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Myl6b APN 10 128,332,211 (GRCm39) missense possibly damaging 0.54
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
R5476:Myl6b UTSW 10 128,333,216 (GRCm39) unclassified probably benign
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
Posted On 2015-04-16