Incidental Mutation 'R9281:Myo6'
ID 703637
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 # R9281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 80162164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 300 (Y300*)
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 null
Transcript: ENSMUST00000035889
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: Y300*

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 null
Transcript: ENSMUST00000076140
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: Y300*

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 null
Transcript: ENSMUST00000113266
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: Y300*

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 probably null
Transcript: ENSMUST00000113268
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: Y300*

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 probably null
Transcript: ENSMUST00000127779
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: Y300*

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 probably null
Transcript: ENSMUST00000184480
AA Change: Y300*
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: Y300*

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,184 (GRCm39) I102M possibly damaging Het
2700049A03Rik G A 12: 71,205,687 (GRCm39) V444I possibly damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Ano1 A T 7: 144,149,318 (GRCm39) Y848N probably damaging Het
Arap2 C T 5: 62,906,848 (GRCm39) R57H probably damaging Het
Atp10b C T 11: 43,116,458 (GRCm39) T935I probably benign Het
Bcl11b A G 12: 107,882,257 (GRCm39) L686P possibly damaging Het
Bmp5 T C 9: 75,683,856 (GRCm39) V161A probably benign Het
C1qtnf3 A G 15: 10,978,607 (GRCm39) E196G probably benign Het
Cacng8 T A 7: 3,460,608 (GRCm39) F130L probably damaging Het
Cap1 A G 4: 122,766,226 (GRCm39) M4T probably benign Het
Ccdc57 T C 11: 120,751,413 (GRCm39) K886E probably benign Het
Cdhr2 A C 13: 54,881,703 (GRCm39) T1112P possibly damaging Het
Clcn4 A T 7: 7,294,813 (GRCm39) M316K probably benign Het
Col22a1 A T 15: 71,732,920 (GRCm39) D1099E unknown Het
Csmd3 A C 15: 47,460,272 (GRCm39) N2595K Het
Ctdspl2 A G 2: 121,841,063 (GRCm39) H451R probably benign Het
Cybrd1 A T 2: 70,968,735 (GRCm39) T203S probably benign Het
Dhx29 A G 13: 113,078,240 (GRCm39) N312S possibly damaging Het
Dhx30 A T 9: 109,929,983 (GRCm39) S38T probably benign Het
Dync2i1 G A 12: 116,211,677 (GRCm39) R277* probably null Het
Ercc8 G T 13: 108,320,364 (GRCm39) A317S probably benign Het
Fndc3a T C 14: 72,799,097 (GRCm39) T629A probably benign Het
Frmpd1 G T 4: 45,284,127 (GRCm39) A983S probably benign Het
Gm14325 T A 2: 177,473,597 (GRCm39) Y495F probably damaging Het
Gm5773 A T 3: 93,680,891 (GRCm39) T188S probably benign Het
Gpsm1 C A 2: 26,214,488 (GRCm39) N243K probably damaging Het
Inpp4a C G 1: 37,410,850 (GRCm39) H339Q probably damaging Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Kdm4a A G 4: 117,995,728 (GRCm39) V1003A probably damaging Het
Lrrc25 T A 8: 71,073,246 (GRCm39) M276K probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcmdc2 G A 1: 9,994,425 (GRCm39) G406D probably damaging Het
Mfhas1 G T 8: 36,057,951 (GRCm39) A809S probably benign Het
Mier2 A T 10: 79,378,294 (GRCm39) D376E probably benign Het
Mllt3 A C 4: 87,707,566 (GRCm39) H464Q probably benign Het
Mtrex A T 13: 113,046,443 (GRCm39) C302* probably null Het
Myzap T C 9: 71,493,482 (GRCm39) D31G unknown Het
Nfatc1 T C 18: 80,741,190 (GRCm39) Y270C probably damaging Het
Nsd3 T C 8: 26,152,961 (GRCm39) S434P probably benign Het
Or13p3 A G 4: 118,566,592 (GRCm39) probably benign Het
Or1e26 T A 11: 73,480,133 (GRCm39) M144L probably benign Het
Osbp2 T A 11: 3,813,375 (GRCm39) T165S probably benign Het
Plxna1 A G 6: 89,300,313 (GRCm39) V1590A probably damaging Het
Pramel7 A G 2: 87,321,495 (GRCm39) L180P probably damaging Het
Prkd1 C T 12: 50,536,758 (GRCm39) D109N probably benign Het
Ptger3 A G 3: 157,273,090 (GRCm39) M146V probably benign Het
Pts A G 9: 50,433,853 (GRCm39) V96A probably damaging Het
Rab11fip5 T C 6: 85,318,834 (GRCm39) E685G probably benign Het
Rab27a C T 9: 72,992,278 (GRCm39) T102I probably damaging Het
Reln A G 5: 22,153,545 (GRCm39) L2253P probably damaging Het
Rock1 C T 18: 10,080,479 (GRCm39) A1022T probably benign Het
Rspry1 T A 8: 95,363,259 (GRCm39) N259K probably damaging Het
Sdha A T 13: 74,472,056 (GRCm39) Y604* probably null Het
Slc12a6 A G 2: 112,164,754 (GRCm39) N151S probably benign Het
Slc26a5 T A 5: 22,019,051 (GRCm39) D596V probably benign Het
Snrpa A G 7: 26,891,051 (GRCm39) V140A probably benign Het
Spta1 T G 1: 174,047,444 (GRCm39) V1696G probably damaging Het
St13 A T 15: 81,261,927 (GRCm39) D179E probably damaging Het
Stpg4 T C 17: 87,702,671 (GRCm39) D182G probably benign Het
Synm A T 7: 67,386,048 (GRCm39) L538* probably null Het
Tigar A T 6: 127,068,157 (GRCm39) L87H probably damaging Het
Tmem67 C A 4: 12,079,962 (GRCm39) V110F possibly damaging Het
Trav6n-5 T A 14: 53,342,744 (GRCm39) L94* probably null Het
Ttf1 A G 2: 28,955,902 (GRCm39) H422R probably benign Het
Ttn A G 2: 76,619,926 (GRCm39) V15914A probably damaging Het
Vmn2r13 C A 5: 109,303,953 (GRCm39) C826F probably damaging Het
Wwc1 C G 11: 35,780,211 (GRCm39) G248A probably benign Het
Zfp120 G A 2: 149,959,615 (GRCm39) H258Y probably damaging Het
Zfp142 A G 1: 74,607,731 (GRCm39) Y1681H probably damaging Het
Zkscan3 A G 13: 21,579,045 (GRCm39) L150P possibly damaging Het
Zscan4-ps1 G T 7: 10,799,589 (GRCm39) F433L possibly 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
R9190:Myo6 UTSW 9 80,195,384 (GRCm39) missense unknown
R9194:Myo6 UTSW 9 80,153,836 (GRCm39) missense unknown
Z1191:Myo6 UTSW 9 80,149,509 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTACAGAGCATCTTACTCCATTG -3'
(R):5'- AATAACCTGAAGTGCTTCCGG -3'

Sequencing Primer
(F):5'- CAGAGCATCTTACTCCATTGTTTTAG -3'
(R):5'- GAAGTGCTTCCGGCTTCC -3'
Posted On 2022-03-25