Incidental Mutation 'R9190:Myo6'
ID 697691
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9190 (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 80195384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 918 (Q918R)
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 probably benign
Transcript: ENSMUST00000035889
AA Change: Q918R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: Q918R

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 probably benign
Transcript: ENSMUST00000076140
AA Change: Q918R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: Q918R

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 unknown
Transcript: ENSMUST00000113266
AA Change: Q918R
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: Q918R

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: Q918R
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: Q918R

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: Q918R
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: Q918R

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: Q918R
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: Q918R

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 0.0595 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,642,880 (GRCm39) T183I possibly damaging Het
Abca13 T A 11: 9,241,886 (GRCm39) S1250T probably damaging Het
Adamts12 T A 15: 11,336,446 (GRCm39) S1510R probably benign Het
Adcy5 T A 16: 35,089,364 (GRCm39) C520* probably null Het
Arhgap21 A T 2: 20,858,983 (GRCm39) M1237K probably null Het
Atp8b4 T A 2: 126,225,607 (GRCm39) N541I probably damaging Het
Bbs12 G T 3: 37,375,223 (GRCm39) R557L probably damaging Het
Bcl7c T C 7: 127,266,200 (GRCm39) T183A probably benign Het
Brd7 A G 8: 89,081,274 (GRCm39) S192P probably damaging Het
Calhm3 G A 19: 47,146,121 (GRCm39) A28V probably benign Het
Ccdc113 A G 8: 96,263,101 (GRCm39) N37S probably damaging Het
Cdh5 T G 8: 104,867,337 (GRCm39) V538G probably damaging Het
Cfap43 T C 19: 47,726,293 (GRCm39) E1639G possibly damaging Het
Clca3a2 C T 3: 144,796,599 (GRCm39) V203I probably benign Het
Clstn2 A G 9: 97,414,815 (GRCm39) F360L probably damaging Het
Cnst GTGACACGCTTG GTG 1: 179,407,039 (GRCm39) probably benign Het
Cog2 T C 8: 125,260,058 (GRCm39) Y234H probably damaging Het
Ddhd2 T C 8: 26,244,495 (GRCm39) S44G probably benign Het
Dync2i2 G T 2: 29,922,211 (GRCm39) H417N probably benign Het
Farp1 A G 14: 121,492,988 (GRCm39) E530G probably damaging Het
Fhad1 C T 4: 141,646,058 (GRCm39) probably null Het
Foxj3 T A 4: 119,477,538 (GRCm39) C449* probably null Het
Fsbp G C 4: 11,584,005 (GRCm39) V235L probably benign Het
Fuom T C 7: 139,681,252 (GRCm39) E73G probably benign Het
Gm5134 A G 10: 75,844,645 (GRCm39) H667R probably damaging Het
Igsf21 A G 4: 139,756,028 (GRCm39) I361T probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kmt2d A T 15: 98,749,896 (GRCm39) V2599E unknown Het
Lama1 T A 17: 68,111,514 (GRCm39) M2255K Het
Litafd C A 16: 8,501,647 (GRCm39) P50T Het
Lrrc32 A G 7: 98,148,234 (GRCm39) H338R probably benign Het
Map1b C A 13: 99,571,914 (GRCm39) R269L probably damaging Het
Ms4a5 T A 19: 11,256,733 (GRCm39) I55F probably damaging Het
Muc5b G C 7: 141,411,939 (GRCm39) L1628F unknown Het
Or1e25 T A 11: 73,493,877 (GRCm39) M157K probably benign Het
Or2t48 A G 11: 58,420,161 (GRCm39) V217A possibly damaging Het
Or5m11b T A 2: 85,805,884 (GRCm39) I99N possibly damaging Het
Or9i1b T G 19: 13,896,967 (GRCm39) N194K probably benign Het
Pals2 A G 6: 50,157,219 (GRCm39) R296G probably damaging Het
Plin5 A G 17: 56,419,462 (GRCm39) V320A probably damaging Het
Ptx4 A T 17: 25,342,257 (GRCm39) Q244L possibly damaging Het
Rab3gap1 A G 1: 127,858,495 (GRCm39) T535A probably benign Het
Ranbp2 T C 10: 58,313,117 (GRCm39) F1279S probably damaging Het
Rgl1 T C 1: 152,428,362 (GRCm39) H254R probably damaging Het
Rida C T 15: 34,487,909 (GRCm39) A69T probably damaging Het
Scn2a T C 2: 65,511,346 (GRCm39) F131L probably benign Het
Septin1 T C 7: 126,816,092 (GRCm39) I141V probably benign Het
Slc10a6 A G 5: 103,765,571 (GRCm39) S171P probably damaging Het
Slc18a1 A G 8: 69,519,790 (GRCm39) probably null Het
Slc38a6 T C 12: 73,388,526 (GRCm39) S247P possibly damaging Het
Tet2 A T 3: 133,187,147 (GRCm39) I1094K possibly damaging Het
Tmem234 C T 4: 129,501,333 (GRCm39) S138L probably benign Het
Trpv1 T A 11: 73,145,148 (GRCm39) probably null Het
Vmn2r60 T A 7: 41,844,935 (GRCm39) M766K probably damaging Het
Vmn2r84 T C 10: 130,226,843 (GRCm39) N332D probably benign Het
Zfp292 A T 4: 34,819,563 (GRCm39) I258N probably damaging Het
Zxdc A G 6: 90,375,773 (GRCm39) K750E 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
R8770:Myo6 UTSW 9 80,171,481 (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
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'- ACCCCAGCATGAATATCTGTTTC -3'
(R):5'- TTTGAGGACATCTGCCATCCC -3'

Sequencing Primer
(F):5'- ACCGACAAAATGTTGAGTTTCTC -3'
(R):5'- GAGGACATCTGCCATCCCTCATC -3'
Posted On 2022-02-07