Incidental Mutation 'R6361:Myl6b'
ID 513125
Institutional Source Beutler Lab
Gene Symbol Myl6b
Ensembl Gene ENSMUSG00000039824
Gene Name myosin, light polypeptide 6B
Synonyms 5730437E04Rik
MMRRC Submission 044511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R6361 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128330026-128334554 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 128333078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 55 (K55*)
Ref Sequence ENSEMBL: ENSMUSP00000026428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000220307] [ENSMUST00000218127] [ENSMUST00000220427] [ENSMUST00000219236]
AlphaFold Q8CI43
Predicted Effect probably null
Transcript: ENSMUST00000026428
AA Change: K55*
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: K55*

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 probably benign
Transcript: ENSMUST00000218127
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 noncoding transcript
Transcript: ENSMUST00000219655
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219554
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 C T 15: 64,221,672 (GRCm39) probably null Het
Cabin1 G A 10: 75,562,699 (GRCm39) A29V possibly damaging Het
Cadps G A 14: 12,491,778 (GRCm38) Q791* probably null Het
Cdc14b T C 13: 64,364,023 (GRCm39) probably null Het
Cep89 C T 7: 35,097,472 (GRCm39) P33S probably damaging Het
Clec18a A G 8: 111,807,661 (GRCm39) probably benign Het
Cln5 T A 14: 103,313,637 (GRCm39) D296E probably benign Het
Col6a4 A T 9: 105,943,902 (GRCm39) S1191T probably benign Het
Crispld1 A G 1: 17,832,455 (GRCm39) I480M probably damaging Het
Dhrs7 A C 12: 72,711,433 (GRCm39) L32V probably damaging Het
Dscam T C 16: 96,424,011 (GRCm39) T1645A probably benign Het
Eif2b3 A G 4: 116,885,622 (GRCm39) T55A possibly damaging Het
Ercc6 T C 14: 32,239,067 (GRCm39) Y52H probably benign Het
Fam170b C A 14: 32,558,028 (GRCm39) Q288K unknown Het
Flt4 A G 11: 49,521,405 (GRCm39) T442A probably benign Het
Gm19402 A T 10: 77,525,895 (GRCm39) probably benign Het
Gm4841 A G 18: 60,403,832 (GRCm39) I87T probably damaging Het
Hspb7 A G 4: 141,149,860 (GRCm39) E82G possibly damaging Het
Itgb3 A G 11: 104,556,408 (GRCm39) K750E possibly damaging Het
Itsn2 A G 12: 4,679,655 (GRCm39) M155V probably benign Het
Marchf8 A T 6: 116,379,062 (GRCm39) D332V probably null Het
Mst1r A G 9: 107,793,052 (GRCm39) M1042V probably benign Het
Muc4 T C 16: 32,587,725 (GRCm39) F2756L probably benign Het
Or1j19 A G 2: 36,676,792 (GRCm39) N85S probably damaging Het
Or4c123 A T 2: 89,126,990 (GRCm39) I208N probably damaging Het
Or4k51 G T 2: 111,584,940 (GRCm39) L115F probably damaging Het
Or7g18 T C 9: 18,787,027 (GRCm39) Y132H probably damaging Het
Or8g50 A C 9: 39,648,968 (GRCm39) N286H probably damaging Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Pkd2 C T 5: 104,634,546 (GRCm39) R526* probably null Het
Polr2a C A 11: 69,634,163 (GRCm39) A756S probably damaging Het
Prkd2 T C 7: 16,581,579 (GRCm39) S145P probably damaging Het
Rhbdf1 T C 11: 32,162,915 (GRCm39) N451D possibly damaging Het
Rundc3a G A 11: 102,291,621 (GRCm39) R358Q probably damaging Het
Spata31g1 A T 4: 42,972,695 (GRCm39) D676V probably benign Het
Spef1l T A 7: 139,556,585 (GRCm39) D134V possibly damaging Het
Tbc1d4 T C 14: 101,744,610 (GRCm39) K339E probably damaging Het
Usp37 A G 1: 74,493,052 (GRCm39) I723T probably benign Het
Vwa2 A T 19: 56,889,958 (GRCm39) probably null Het
Zdbf2 A C 1: 63,342,480 (GRCm39) R286S possibly damaging Het
Zfp422 G A 6: 116,603,781 (GRCm39) H73Y probably damaging Het
Zfp868 T C 8: 70,064,564 (GRCm39) H257R probably damaging Het
Zzef1 A G 11: 72,775,175 (GRCm39) S1723G possibly 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
R5476:Myl6b UTSW 10 128,333,216 (GRCm39) unclassified probably benign
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'- TGGGGTTCAGAGATGTAGCC -3'
(R):5'- TTGGCCACCTGACATCATGC -3'

Sequencing Primer
(F):5'- CAGAGATGTAGCCTTCTGAGTTGAAC -3'
(R):5'- TCATGCCTCCCAAGAAGGATG -3'
Posted On 2018-04-27