Incidental Mutation 'R8245:Myo6'
ID 640824
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 067673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8245 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80162229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 322 (T322I)
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: T322I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: T322I

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: T322I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: T322I

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 benign
Transcript: ENSMUST00000113266
AA Change: T322I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: T322I

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: T322I
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: T322I

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: T322I
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: T322I

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: T322I
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: T322I

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: 99.0%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,539,870 (GRCm39) probably null Het
Adam4 A T 12: 81,466,657 (GRCm39) C655S probably damaging Het
Adamts13 A C 2: 26,880,568 (GRCm39) D717A probably damaging Het
Atf7ip2 A G 16: 10,019,262 (GRCm39) N30S possibly damaging Het
Bmp8b T C 4: 123,008,532 (GRCm39) V166A probably benign Het
Bpifb9a G A 2: 154,104,646 (GRCm39) G261R probably benign Het
Cdipt G T 7: 126,578,732 (GRCm39) M174I probably benign Het
Cep128 T C 12: 90,966,419 (GRCm39) T1063A probably benign Het
Ciao1 A G 2: 127,088,404 (GRCm39) Y140H probably damaging Het
Cngb1 A G 8: 96,024,408 (GRCm39) S217P unknown Het
Cnot2 T A 10: 116,346,294 (GRCm39) I103F probably benign Het
Col27a1 T G 4: 63,144,040 (GRCm39) V576G probably damaging Het
Dapk1 T A 13: 60,878,710 (GRCm39) H566Q probably benign Het
Dhrs2 T A 14: 55,478,637 (GRCm39) C261S possibly damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Fer1l4 A G 2: 155,886,934 (GRCm39) probably null Het
Fhod3 T A 18: 25,246,673 (GRCm39) F1293Y probably damaging Het
Fsip1 T A 2: 118,075,359 (GRCm39) K218M unknown Het
Fsip2 G T 2: 82,811,346 (GRCm39) S2555I possibly damaging Het
Gfpt2 A G 11: 49,714,785 (GRCm39) K358E probably benign Het
Gm9637 A T 14: 19,402,598 (GRCm38) V1D noncoding transcript Het
H2-M10.6 T C 17: 37,124,155 (GRCm39) probably null Het
Hand2 A G 8: 57,774,994 (GRCm39) Y18C probably damaging Het
Helz2 A T 2: 180,879,895 (GRCm39) V607E probably damaging Het
Hps5 G A 7: 46,418,485 (GRCm39) R862* probably null Het
Ildr1 A G 16: 36,529,883 (GRCm39) D90G probably damaging Het
Ints12 A G 3: 132,814,633 (GRCm39) N280S probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itpr2 T A 6: 146,274,604 (GRCm39) K859N probably damaging Het
Lhx9 G T 1: 138,766,179 (GRCm39) A212D probably benign Het
Ndufaf4 A G 4: 24,898,648 (GRCm39) D71G probably benign Het
Nrp1 T A 8: 129,214,434 (GRCm39) S641T probably benign Het
Nudt7 A T 8: 114,863,080 (GRCm39) N37I probably damaging Het
Obscn T A 11: 58,913,066 (GRCm39) I271F Het
Or2ag16 T C 7: 106,352,374 (GRCm39) T74A probably benign Het
Or4d2b G A 11: 87,780,443 (GRCm39) S93F probably damaging Het
Or6c5b T C 10: 129,245,975 (GRCm39) S247P probably damaging Het
Or7g18 T C 9: 18,787,126 (GRCm39) Y168H probably benign Het
Or9g4b A G 2: 85,616,119 (GRCm39) E88G probably benign Het
Oxa1l T C 14: 54,605,274 (GRCm39) S317P probably damaging Het
Poglut2 A T 1: 44,156,226 (GRCm39) H120Q probably benign Het
Polr2a C T 11: 69,630,779 (GRCm39) R1213H probably damaging Het
Postn A T 3: 54,283,468 (GRCm39) S516C probably null Het
Rabep2 A G 7: 126,039,580 (GRCm39) T336A possibly damaging Het
Ralgapb G A 2: 158,285,256 (GRCm39) C585Y probably damaging Het
Rexo4 A G 2: 26,850,350 (GRCm39) S276P probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCTGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sipa1l3 A G 7: 29,099,789 (GRCm39) L160P probably damaging Het
Sphkap A G 1: 83,256,492 (GRCm39) F419S probably benign Het
Stag1 C A 9: 100,811,946 (GRCm39) T808K probably benign Het
Stam2 G T 2: 52,604,931 (GRCm39) N201K possibly damaging Het
Stat1 G A 1: 52,194,178 (GRCm39) R704Q probably benign Het
Tacc2 A G 7: 130,331,303 (GRCm39) D2236G probably damaging Het
Thsd7a T A 6: 12,379,592 (GRCm39) Y944F Het
Tmem225 G T 9: 40,061,955 (GRCm39) V190F probably damaging Het
Tonsl A T 15: 76,521,022 (GRCm39) V400D probably benign Het
Tpp2 G A 1: 44,022,712 (GRCm39) G971D probably damaging Het
Trh C T 6: 92,220,050 (GRCm39) V89I probably benign Het
Txlnb A G 10: 17,717,205 (GRCm39) D404G probably damaging Het
Uggt1 A G 1: 36,204,645 (GRCm39) V990A probably damaging Het
Vmn1r179 T A 7: 23,628,396 (GRCm39) Y196N possibly damaging Het
Vmn2r8 T C 5: 108,945,936 (GRCm39) D557G probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C 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
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
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'- ACTACAGAGCATCTTACTCCATTG -3'
(R):5'- GGCCATGTAGCATTCATTGTC -3'

Sequencing Primer
(F):5'- CAGAGCATCTTACTCCATTGTTTTAG -3'
(R):5'- GCCATGTAGCATTCATTGTCAAAGTC -3'
Posted On 2020-07-28