Incidental Mutation 'R8770:Myo6'
ID 664354
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 068625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8770 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80171481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 494 (E494G)
Ref Sequence ENSEMBL: ENSMUSP00000139019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035889] [ENSMUST00000076140] [ENSMUST00000113266] [ENSMUST00000113268] [ENSMUST00000127779] [ENSMUST00000184480]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035889
AA Change: E494G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1113 3e-29 BLAST
PDB:3H8D|D 1134 1262 1e-74 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000076140
AA Change: E494G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1126 2e-27 BLAST
PDB:3H8D|D 1138 1266 8e-75 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000113266
AA Change: E494G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1113 3e-29 BLAST
PDB:3H8D|D 1125 1253 9e-75 PDB
Predicted Effect unknown
Transcript: ENSMUST00000113268
AA Change: E494G
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1135 2e-26 BLAST
Pfam:Myosin-VI_CBD 1167 1257 1.4e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127779
AA Change: E494G
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1136 1e-26 BLAST
PDB:3H8D|D 1157 1285 9e-75 PDB
Predicted Effect unknown
Transcript: ENSMUST00000184480
AA Change: E494G
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: E494G

DomainStartEndE-ValueType
MYSc 51 772 N/A SMART
IQ 812 834 8.58e-1 SMART
low complexity region 909 980 N/A INTRINSIC
low complexity region 982 1002 N/A INTRINSIC
Blast:MYSc 1003 1145 1e-25 BLAST
PDB:3H8D|D 1166 1294 8e-75 PDB
Meta Mutation Damage Score 0.7713 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous mutant mice exhibit deafness and related behavioral characteristics such as circling, head tossing and hyperactivity. Progressive degeneration of the cochlear hair cells and the organ of Corti is observed with one mutation. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted, other(2) Gene trapped(6) Spontaneous(3) Chemically induced(2)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,104,199 (GRCm39) probably null Het
Aox1 A T 1: 58,378,763 (GRCm39) K1004M probably benign Het
Atn1 C T 6: 124,722,601 (GRCm39) probably null Het
Atp8b4 T C 2: 126,184,915 (GRCm39) Y916C probably damaging Het
Bicd1 T C 6: 149,420,448 (GRCm39) L766S probably damaging Het
Bmpr2 T G 1: 59,884,684 (GRCm39) D223E probably benign Het
Bpifc T G 10: 85,801,129 (GRCm39) R406S probably damaging Het
Ccl6 A G 11: 83,479,658 (GRCm39) I115T possibly damaging Het
Cdcp1 A T 9: 123,006,926 (GRCm39) I607N possibly damaging Het
Cdyl2 T C 8: 117,321,822 (GRCm39) Y235C probably damaging Het
Clns1a A G 7: 97,363,117 (GRCm39) Q163R probably benign Het
Cntn3 T A 6: 102,254,277 (GRCm39) M222L possibly damaging Het
Cpn1 A G 19: 43,952,208 (GRCm39) V358A probably damaging Het
Dchs1 G A 7: 105,420,945 (GRCm39) R492W probably damaging Het
Dmxl2 T C 9: 54,311,298 (GRCm39) T1808A probably benign Het
Dnah10 A G 5: 124,852,410 (GRCm39) I1880V possibly damaging Het
Dnai3 T C 3: 145,752,298 (GRCm39) T793A probably benign Het
Dscam T C 16: 96,456,106 (GRCm39) E1274G possibly damaging Het
Dtwd1 A G 2: 125,996,727 (GRCm39) T71A probably damaging Het
Dusp4 T A 8: 35,274,938 (GRCm39) M19K probably benign Het
Fbxo39 T C 11: 72,209,285 (GRCm39) F382L probably damaging Het
Fbxw20 A T 9: 109,046,596 (GRCm39) C455S probably benign Het
Fcmr T A 1: 130,803,799 (GRCm39) V201E probably benign Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gpr156 A G 16: 37,824,974 (GRCm39) E397G possibly damaging Het
Gzmf A T 14: 56,443,951 (GRCm39) V73D probably damaging Het
Hrob A G 11: 102,145,976 (GRCm39) N84S probably benign Het
Laptm4b T C 15: 34,258,843 (GRCm39) V39A possibly damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Mylk3 T A 8: 86,091,460 (GRCm39) E115V probably damaging Het
Myo7b C T 18: 32,114,124 (GRCm39) D1076N probably benign Het
Neurl1b A G 17: 26,650,887 (GRCm39) D53G probably damaging Het
Noc4l A G 5: 110,796,758 (GRCm39) L508P possibly damaging Het
Nup210l C A 3: 90,025,850 (GRCm39) F157L probably damaging Het
Ogdh T C 11: 6,305,336 (GRCm39) Y959H probably damaging Het
Or13c7d T G 4: 43,770,813 (GRCm39) N66T probably damaging Het
Or4a73 A G 2: 89,421,171 (GRCm39) M96T probably benign Het
Pik3ap1 A G 19: 41,316,599 (GRCm39) Y264H possibly damaging Het
Plb1 T C 5: 32,404,853 (GRCm39) Y4H unknown Het
Rad21 A G 15: 51,831,749 (GRCm39) I444T probably benign Het
Recql5 T C 11: 115,787,943 (GRCm39) I459V probably benign Het
Scaf1 T C 7: 44,656,129 (GRCm39) T917A unknown Het
Sdc4 C T 2: 164,270,822 (GRCm39) V146I probably damaging Het
Serpina6 T C 12: 103,620,198 (GRCm39) S184G probably benign Het
Shkbp1 C A 7: 27,051,311 (GRCm39) R218S possibly damaging Het
Slc17a3 A G 13: 24,039,607 (GRCm39) D255G Het
Slc7a2 T G 8: 41,352,267 (GRCm39) V110G probably damaging Het
Slf1 A C 13: 77,194,766 (GRCm39) V853G probably damaging Het
Smarcad1 T C 6: 65,029,718 (GRCm39) V102A probably benign Het
Sobp T C 10: 43,036,788 (GRCm39) K50R probably damaging Het
Spink10 A T 18: 62,786,532 (GRCm39) R47S probably benign Het
Sspo T A 6: 48,451,206 (GRCm39) F2720Y probably null Het
Tdrkh T A 3: 94,336,440 (GRCm39) V459D probably damaging Het
Tent5a A G 9: 85,208,803 (GRCm39) Y7H probably benign Het
Tlcd2 T A 11: 75,360,630 (GRCm39) D224E probably damaging Het
Tln2 T A 9: 67,230,304 (GRCm39) Q87L probably benign Het
Tmem131 A T 1: 36,838,186 (GRCm39) probably benign Het
Tmem63a G A 1: 180,789,961 (GRCm39) G378R probably benign Het
Trank1 C A 9: 111,219,892 (GRCm39) Q2210K probably benign Het
Trim24 T A 6: 37,934,435 (GRCm39) probably benign Het
Trim37 T A 11: 87,050,675 (GRCm39) I238N probably damaging Het
Vps39 A T 2: 120,153,548 (GRCm39) D675E probably benign Het
Zfp229 T A 17: 21,964,795 (GRCm39) C342S probably damaging Het
Zfp759 A G 13: 67,288,417 (GRCm39) H656R probably damaging Het
Zfp994 T C 17: 22,419,980 (GRCm39) Y323C probably damaging Het
Other mutations in Myo6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Myo6 APN 9 80,199,754 (GRCm39) missense probably damaging 0.98
IGL00584:Myo6 APN 9 80,149,555 (GRCm39) splice site probably benign
IGL00596:Myo6 APN 9 80,189,025 (GRCm39) missense possibly damaging 0.91
IGL00778:Myo6 APN 9 80,190,868 (GRCm39) critical splice donor site probably null
IGL01667:Myo6 APN 9 80,197,175 (GRCm39) missense unknown
IGL01939:Myo6 APN 9 80,168,100 (GRCm39) missense probably damaging 1.00
IGL02123:Myo6 APN 9 80,171,554 (GRCm39) splice site probably benign
IGL02271:Myo6 APN 9 80,168,113 (GRCm39) missense probably benign 0.01
IGL02512:Myo6 APN 9 80,199,801 (GRCm39) critical splice donor site probably null
IGL02716:Myo6 APN 9 80,176,976 (GRCm39) missense probably damaging 1.00
IGL02888:Myo6 APN 9 80,177,013 (GRCm39) splice site probably benign
IGL02890:Myo6 APN 9 80,173,456 (GRCm39) missense probably damaging 1.00
IGL02951:Myo6 APN 9 80,171,516 (GRCm39) missense possibly damaging 0.66
IGL02990:Myo6 APN 9 80,183,685 (GRCm39) critical splice donor site probably null
IGL03060:Myo6 APN 9 80,168,159 (GRCm39) missense probably benign 0.00
IGL03145:Myo6 APN 9 80,207,947 (GRCm39) nonsense probably null
IGL03306:Myo6 APN 9 80,153,837 (GRCm39) missense probably damaging 1.00
agnostic UTSW 9 80,190,816 (GRCm39) missense possibly damaging 0.62
knownothing UTSW 9 80,210,583 (GRCm39) critical splice donor site probably null
mayday_circler UTSW 9 80,153,733 (GRCm39) nonsense probably null
torticollis UTSW 9 80,195,499 (GRCm39) critical splice donor site probably null
toss UTSW 9 80,207,949 (GRCm39) critical splice donor site probably null
truths UTSW 9 80,177,321 (GRCm39) nonsense probably null
unbiased UTSW 9 80,181,257 (GRCm39) splice site probably benign
IGL03134:Myo6 UTSW 9 80,199,749 (GRCm39) missense probably damaging 0.96
R0023:Myo6 UTSW 9 80,190,816 (GRCm39) missense possibly damaging 0.62
R0023:Myo6 UTSW 9 80,190,816 (GRCm39) missense possibly damaging 0.62
R0124:Myo6 UTSW 9 80,215,056 (GRCm39) missense probably damaging 1.00
R0133:Myo6 UTSW 9 80,181,257 (GRCm39) splice site probably benign
R0207:Myo6 UTSW 9 80,195,338 (GRCm39) missense probably damaging 1.00
R0295:Myo6 UTSW 9 80,190,861 (GRCm39) missense probably damaging 0.98
R0389:Myo6 UTSW 9 80,199,748 (GRCm39) missense probably damaging 0.98
R0432:Myo6 UTSW 9 80,181,256 (GRCm39) splice site probably benign
R0526:Myo6 UTSW 9 80,190,823 (GRCm39) missense possibly damaging 0.61
R0791:Myo6 UTSW 9 80,169,656 (GRCm39) splice site probably benign
R0885:Myo6 UTSW 9 80,149,503 (GRCm39) missense probably damaging 1.00
R1082:Myo6 UTSW 9 80,195,303 (GRCm39) missense probably damaging 1.00
R1113:Myo6 UTSW 9 80,152,996 (GRCm39) missense probably damaging 1.00
R1184:Myo6 UTSW 9 80,193,664 (GRCm39) nonsense probably null
R1308:Myo6 UTSW 9 80,152,996 (GRCm39) missense probably damaging 1.00
R1498:Myo6 UTSW 9 80,214,961 (GRCm39) missense probably damaging 1.00
R1609:Myo6 UTSW 9 80,195,499 (GRCm39) critical splice donor site probably null
R1615:Myo6 UTSW 9 80,215,007 (GRCm39) missense probably damaging 1.00
R1771:Myo6 UTSW 9 80,193,082 (GRCm39) missense probably damaging 1.00
R1772:Myo6 UTSW 9 80,177,331 (GRCm39) missense possibly damaging 0.95
R1789:Myo6 UTSW 9 80,207,854 (GRCm39) missense probably damaging 1.00
R1962:Myo6 UTSW 9 80,168,117 (GRCm39) missense probably damaging 1.00
R1978:Myo6 UTSW 9 80,136,207 (GRCm39) missense probably damaging 0.99
R2011:Myo6 UTSW 9 80,215,004 (GRCm39) missense probably damaging 0.99
R2092:Myo6 UTSW 9 80,152,964 (GRCm39) missense probably damaging 1.00
R2098:Myo6 UTSW 9 80,188,808 (GRCm39) missense probably damaging 1.00
R2206:Myo6 UTSW 9 80,165,737 (GRCm39) missense probably benign 0.01
R2286:Myo6 UTSW 9 80,173,494 (GRCm39) missense possibly damaging 0.82
R2429:Myo6 UTSW 9 80,210,583 (GRCm39) critical splice donor site probably null
R2696:Myo6 UTSW 9 80,168,176 (GRCm39) missense probably benign 0.00
R2897:Myo6 UTSW 9 80,176,893 (GRCm39) splice site probably null
R2898:Myo6 UTSW 9 80,176,893 (GRCm39) splice site probably null
R3881:Myo6 UTSW 9 80,171,538 (GRCm39) missense probably damaging 1.00
R4424:Myo6 UTSW 9 80,195,320 (GRCm39) missense probably benign 0.26
R4718:Myo6 UTSW 9 80,153,799 (GRCm39) missense probably benign 0.01
R4893:Myo6 UTSW 9 80,136,159 (GRCm39) missense probably damaging 1.00
R4936:Myo6 UTSW 9 80,214,963 (GRCm39) missense probably damaging 1.00
R4992:Myo6 UTSW 9 80,190,792 (GRCm39) missense possibly damaging 0.95
R5073:Myo6 UTSW 9 80,195,290 (GRCm39) missense probably benign 0.00
R5101:Myo6 UTSW 9 80,177,321 (GRCm39) nonsense probably null
R5137:Myo6 UTSW 9 80,149,531 (GRCm39) missense probably damaging 1.00
R5200:Myo6 UTSW 9 80,183,656 (GRCm39) nonsense probably null
R5510:Myo6 UTSW 9 80,152,942 (GRCm39) missense probably damaging 1.00
R5579:Myo6 UTSW 9 80,125,002 (GRCm39) missense probably damaging 0.99
R5693:Myo6 UTSW 9 80,173,462 (GRCm39) missense probably damaging 1.00
R5701:Myo6 UTSW 9 80,165,809 (GRCm39) missense probably damaging 1.00
R6693:Myo6 UTSW 9 80,153,013 (GRCm39) missense probably damaging 1.00
R7151:Myo6 UTSW 9 80,152,418 (GRCm39) missense unknown
R7399:Myo6 UTSW 9 80,169,573 (GRCm39) missense unknown
R7492:Myo6 UTSW 9 80,195,328 (GRCm39) nonsense probably null
R7651:Myo6 UTSW 9 80,171,548 (GRCm39) critical splice donor site probably null
R7698:Myo6 UTSW 9 80,124,938 (GRCm39) missense unknown
R7743:Myo6 UTSW 9 80,183,611 (GRCm39) missense unknown
R7888:Myo6 UTSW 9 80,203,947 (GRCm39) missense probably damaging 0.99
R8161:Myo6 UTSW 9 80,124,991 (GRCm39) missense unknown
R8245:Myo6 UTSW 9 80,162,229 (GRCm39) missense unknown
R8375:Myo6 UTSW 9 80,162,206 (GRCm39) missense unknown
R8387:Myo6 UTSW 9 80,183,632 (GRCm39) missense unknown
R8467:Myo6 UTSW 9 80,136,168 (GRCm39) missense probably damaging 1.00
R8669:Myo6 UTSW 9 80,173,531 (GRCm39) missense unknown
R8807:Myo6 UTSW 9 80,207,949 (GRCm39) critical splice donor site probably null
R9006:Myo6 UTSW 9 80,136,140 (GRCm39) missense unknown
R9018:Myo6 UTSW 9 80,159,086 (GRCm39) missense unknown
R9038:Myo6 UTSW 9 80,162,285 (GRCm39) missense unknown
R9124:Myo6 UTSW 9 80,195,353 (GRCm39) missense unknown
R9190:Myo6 UTSW 9 80,195,384 (GRCm39) missense unknown
R9194:Myo6 UTSW 9 80,153,836 (GRCm39) missense unknown
R9281:Myo6 UTSW 9 80,162,164 (GRCm39) nonsense probably null
Z1191:Myo6 UTSW 9 80,149,509 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTGTACCCATAGTTGGCTGC -3'
(R):5'- AGGGTGTACTACAAAAGACCCC -3'

Sequencing Primer
(F):5'- TACCCATAGTTGGCTGCAAGGG -3'
(R):5'- GGGTGTACTACAAAAGACCCCATCTC -3'
Posted On 2021-03-08