Incidental Mutation 'PIT4260001:Myl6b'
ID 554508
Institutional Source Beutler Lab
Gene Symbol Myl6b
Ensembl Gene ENSMUSG00000039824
Gene Name myosin, light polypeptide 6B
Synonyms 5730437E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # PIT4260001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128330026-128334554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128332175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 97 (Q97L)
Ref Sequence ENSEMBL: ENSMUSP00000026428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000217969] [ENSMUST00000218127] [ENSMUST00000219236] [ENSMUST00000220307] [ENSMUST00000220427]
AlphaFold Q8CI43
Predicted Effect possibly damaging
Transcript: ENSMUST00000026428
AA Change: Q97L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: Q97L

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 probably benign
Transcript: ENSMUST00000217733
Predicted Effect probably benign
Transcript: ENSMUST00000217776
Predicted Effect probably benign
Transcript: ENSMUST00000217969
Predicted Effect probably benign
Transcript: ENSMUST00000218127
Predicted Effect probably benign
Transcript: ENSMUST00000219236
Predicted Effect probably benign
Transcript: ENSMUST00000220307
Predicted Effect probably benign
Transcript: ENSMUST00000220427
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.8%
  • 20x: 72.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 A T 18: 38,129,948 (GRCm39) L71Q probably benign Het
Atp10a A T 7: 58,440,866 (GRCm39) K504* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
Cep128 A G 12: 91,265,808 (GRCm39) V268A probably benign Het
Clgn T C 8: 84,149,753 (GRCm39) M418T probably damaging Het
Col12a1 A G 9: 79,558,662 (GRCm39) probably null Het
Col4a3 A T 1: 82,660,482 (GRCm39) E933D unknown Het
Csmd1 A T 8: 16,120,327 (GRCm39) L1826Q probably damaging Het
Enpp2 C T 15: 54,707,774 (GRCm39) probably null Het
Ep400 G A 5: 110,841,037 (GRCm39) R1832* probably null Het
Exoc5 T C 14: 49,286,222 (GRCm39) K135R probably benign Het
Fam83h A G 15: 75,873,746 (GRCm39) F1197S probably damaging Het
Gabrg1 T C 5: 70,939,623 (GRCm39) I170V probably benign Het
Gigyf2 C T 1: 87,346,828 (GRCm39) R610C unknown Het
Gm16440 T C 14: 17,575,339 (GRCm39) E119G probably benign Het
Gm17669 A G 18: 67,695,508 (GRCm39) R18G probably damaging Het
Gxylt1 A G 15: 93,159,708 (GRCm39) S100P probably damaging Het
H3c10 C A 13: 21,902,089 (GRCm39) S87R possibly damaging Het
Hacd4 C G 4: 88,316,342 (GRCm39) R259T unknown Het
Hacd4 T A 4: 88,316,343 (GRCm39) R259* probably null Het
Hivep3 T C 4: 119,956,379 (GRCm39) L1565P probably damaging Het
Iqsec1 T A 6: 90,667,471 (GRCm39) D218V probably damaging Het
Matn2 C T 15: 34,428,877 (GRCm39) T747I possibly damaging Het
Or5d18 A T 2: 87,865,126 (GRCm39) M119K probably damaging Het
Pcdh1 A G 18: 38,336,419 (GRCm39) V72A probably damaging Het
Pira2 T C 7: 3,845,173 (GRCm39) T362A probably benign Het
Pira2 C T 7: 3,845,169 (GRCm39) S363N probably benign Het
Pira2 G C 7: 3,845,172 (GRCm39) T362S probably benign Het
Pkhd1 A G 1: 20,293,130 (GRCm39) V2830A possibly damaging Het
Plpp1 A G 13: 112,993,419 (GRCm39) D118G probably damaging Het
Polr2a A G 11: 69,626,793 (GRCm39) S1514P possibly damaging Het
Pou3f2 G T 4: 22,487,291 (GRCm39) Q281K possibly damaging Het
Prl7a2 A T 13: 27,843,259 (GRCm39) Y181* probably null Het
Prpf4b T A 13: 35,068,274 (GRCm39) S368T probably benign Het
Prss45 A G 9: 110,667,513 (GRCm39) D53G probably benign Het
Ryr2 T A 13: 11,609,641 (GRCm39) H4395L possibly damaging Het
Spp2 G T 1: 88,338,927 (GRCm39) A97S probably benign Het
Strn4 T C 7: 16,556,434 (GRCm39) F99S probably damaging Het
Tcaf2 T A 6: 42,619,739 (GRCm39) H96L probably damaging Het
Tenm2 T C 11: 36,054,557 (GRCm39) D601G probably damaging Het
Trpm6 A T 19: 18,803,166 (GRCm39) M870L possibly damaging Het
Ttn T C 2: 76,773,569 (GRCm39) T2351A unknown Het
Xirp2 T A 2: 67,341,941 (GRCm39) I1394K possibly damaging Het
Zfc3h1 G T 10: 115,226,794 (GRCm39) D284Y 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
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
Predicted Primers PCR Primer
(F):5'- TGGCCAACCTGAGTAATTTGG -3'
(R):5'- CATGAATTTCTGAAGCAAACCTCC -3'

Sequencing Primer
(F):5'- CAGTACCTCTGTAATAAGGGCTTGC -3'
(R):5'- GAATTTCTGAAGCAAACCTCCCTCTC -3'
Posted On 2019-06-07