Incidental Mutation 'R9038:Myo6'
ID 687545
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 068866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9038 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80162285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 341 (V341L)
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 damaging
Transcript: ENSMUST00000035889
AA Change: V341L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: V341L

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 damaging
Transcript: ENSMUST00000076140
AA Change: V341L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: V341L

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: V341L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: V341L

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: V341L
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: V341L

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: V341L
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: V341L

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: V341L
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: V341L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.4%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,895,651 (GRCm39) C382S probably benign Het
Abcf2 A G 5: 24,776,191 (GRCm39) V296A possibly damaging Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Acvrl1 A G 15: 101,039,011 (GRCm39) D436G possibly damaging Het
Adamts7 A G 9: 90,056,692 (GRCm39) I254V Het
Arhgef18 A G 8: 3,503,257 (GRCm39) I888V probably benign Het
Arhgef40 C A 14: 52,235,072 (GRCm39) A1083D probably damaging Het
Arnt2 C A 7: 83,954,059 (GRCm39) A275S probably benign Het
Brd10 A T 19: 29,731,900 (GRCm39) Y371N possibly damaging Het
Brip1 C T 11: 86,080,599 (GRCm39) V156I probably benign Het
Camk4 C A 18: 33,291,953 (GRCm39) C204* probably null Het
Cenpe A G 3: 134,923,797 (GRCm39) T161A probably benign Het
Chd2 G A 7: 73,105,358 (GRCm39) H1256Y probably damaging Het
Chd9 G A 8: 91,716,233 (GRCm39) V936I unknown Het
D6Ertd527e A G 6: 87,089,233 (GRCm39) *465W probably null Het
Dcaf11 T A 14: 55,803,114 (GRCm39) D309E probably damaging Het
Dtna A G 18: 23,743,553 (GRCm39) N373S probably benign Het
Eif2b2 A G 12: 85,266,897 (GRCm39) D104G probably benign Het
Fras1 A T 5: 96,874,742 (GRCm39) T2302S probably benign Het
Gga1 A G 15: 78,768,321 (GRCm39) K114E probably damaging Het
Gm12887 A G 4: 121,473,616 (GRCm39) probably null Het
Gss A T 2: 155,406,794 (GRCm39) I396N Het
H2-M5 T C 17: 37,299,422 (GRCm39) I199M possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ift172 G T 5: 31,441,399 (GRCm39) T245K possibly damaging Het
Ift70a2 G A 2: 75,808,215 (GRCm39) T99I probably benign Het
Iqck A G 7: 118,498,881 (GRCm39) D173G probably damaging Het
Itga11 A G 9: 62,675,039 (GRCm39) N857S possibly damaging Het
Kdm1b C A 13: 47,202,770 (GRCm39) S68R probably benign Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Nfkbie C A 17: 45,870,183 (GRCm39) A176E probably damaging Het
Nlrp2 C T 7: 5,330,478 (GRCm39) M639I probably benign Het
Or10g3 T A 14: 52,609,716 (GRCm39) S265C probably damaging Het
Or10j2 T A 1: 173,098,147 (GRCm39) I135N possibly damaging Het
Or56a41 T C 7: 104,740,433 (GRCm39) I138V probably benign Het
Or5w16 A G 2: 87,577,125 (GRCm39) N195S probably damaging Het
Or6c215 T C 10: 129,637,564 (GRCm39) T277A probably damaging Het
Or8k40 A T 2: 86,584,354 (GRCm39) S243T probably damaging Het
Pak4 G A 7: 28,264,263 (GRCm39) T213M probably damaging Het
Pan2 C T 10: 128,153,810 (GRCm39) Q1003* probably null Het
Pde4c G C 8: 71,179,550 (GRCm39) V34L probably benign Het
Pi4k2a G A 19: 42,089,235 (GRCm39) V199M probably damaging Het
Platr25 T C 13: 62,848,007 (GRCm39) E285G probably damaging Het
Polr3e T C 7: 120,536,906 (GRCm39) V356A possibly damaging Het
Prcp A G 7: 92,567,017 (GRCm39) D243G probably benign Het
Qsox2 T C 2: 26,115,246 (GRCm39) T161A probably damaging Het
Rhoj A G 12: 75,355,700 (GRCm39) T35A Het
Scn9a T A 2: 66,325,147 (GRCm39) M1336L probably damaging Het
Sel1l2 G T 2: 140,117,384 (GRCm39) N162K probably damaging Het
Slc15a3 T C 19: 10,820,866 (GRCm39) L161P probably damaging Het
Slc4a11 G A 2: 130,533,663 (GRCm39) A100V probably damaging Het
Sp1 A G 15: 102,316,320 (GRCm39) S41G probably benign Het
Tbx15 A G 3: 99,222,085 (GRCm39) M183V probably benign Het
Tfip11 A G 5: 112,481,214 (GRCm39) T397A possibly damaging Het
Themis T C 10: 28,657,749 (GRCm39) S259P probably damaging Het
Tm7sf2 T C 19: 6,117,172 (GRCm39) Y77C probably damaging Het
Tnnt2 C A 1: 135,774,484 (GRCm39) P81H possibly damaging Het
Trpc7 T C 13: 57,035,886 (GRCm39) T16A probably benign Het
Ttn T A 2: 76,745,056 (GRCm39) Y5331F possibly damaging Het
Virma A G 4: 11,526,922 (GRCm39) Q1057R possibly damaging Het
Vmn2r118 A T 17: 55,918,649 (GRCm39) F81Y probably damaging Het
Vmn2r88 T C 14: 51,651,490 (GRCm39) V268A Het
Vmn2r93 T A 17: 18,524,471 (GRCm39) M155K probably benign Het
Vps13b G T 15: 35,875,931 (GRCm39) C2772F possibly damaging Het
Wdr90 T C 17: 26,076,200 (GRCm39) N86D Het
Zbtb34 T C 2: 33,301,248 (GRCm39) D431G probably damaging Het
Zc3h3 G A 15: 75,711,237 (GRCm39) P408L probably benign Het
Zfp345 A G 2: 150,313,864 (GRCm39) Y558H probably benign Het
Zfp583 G A 7: 6,319,543 (GRCm39) P490S 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
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'- GCATTAATAGACCCGCTGTTGTAG -3'
(R):5'- TGTAGCATTCATTGTCAAAGTCACC -3'

Sequencing Primer
(F):5'- AATAGACCCGCTGTTGTAGTTTTTAG -3'
(R):5'- ATCAGAAGACATCACAGAAATTTGG -3'
Posted On 2021-11-19