Incidental Mutation 'R9124:Myo6'
ID 693109
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 # R9124 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80195353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 908 (D908N)
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: D908N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: D908N

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: D908N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: D908N

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: D908N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: D908N

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: D908N
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: D908N

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: D908N
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: D908N

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: D908N
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: D908N

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 100% (91/91)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,792,679 (GRCm39) N89K possibly damaging Het
Abca5 A T 11: 110,189,005 (GRCm39) D817E possibly damaging Het
Abca8b G A 11: 109,828,593 (GRCm39) S1435F probably damaging Het
Akap9 T C 5: 4,111,284 (GRCm39) L3115P probably damaging Het
Arhgap39 G A 15: 76,619,467 (GRCm39) R706W probably damaging Het
Atp5mk T C 19: 47,074,578 (GRCm39) M28V probably benign Het
BC061237 A T 14: 44,740,851 (GRCm39) I84F possibly damaging Het
Bhlhe22 T C 3: 18,109,342 (GRCm39) S131P probably damaging Het
Brinp1 C A 4: 68,747,582 (GRCm39) D174Y probably damaging Het
Bsdc1 A G 4: 129,359,068 (GRCm39) T40A probably benign Het
Ccdc65 A T 15: 98,618,863 (GRCm39) K281* probably null Het
Cd22 T C 7: 30,572,662 (GRCm39) I316V probably benign Het
Cdhr18 A G 14: 13,864,354 (GRCm38) F324S Het
Cfap100 A C 6: 90,386,330 (GRCm39) I275S Het
Chd3 T G 11: 69,260,162 (GRCm39) E19A unknown Het
Chrnb1 T C 11: 69,685,057 (GRCm39) D91G probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Csmd1 A G 8: 16,034,806 (GRCm39) V2455A probably damaging Het
Dbp C T 7: 45,357,818 (GRCm39) R229C probably damaging Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnah6 C A 6: 73,098,882 (GRCm39) V2058F possibly damaging Het
Dsp T A 13: 38,377,276 (GRCm39) V1687D probably benign Het
Dtd1 T A 2: 144,445,798 (GRCm39) M45K possibly damaging Het
Fat1 T A 8: 45,403,363 (GRCm39) F38Y probably benign Het
Fat1 T A 8: 45,478,064 (GRCm39) V2370E possibly damaging Het
Fgfr1 T A 8: 26,060,185 (GRCm39) D438E probably damaging Het
Fsip2 A T 2: 82,816,103 (GRCm39) K3945N probably benign Het
Galc C A 12: 98,220,423 (GRCm39) probably null Het
Git1 C A 11: 77,395,498 (GRCm39) D398E possibly damaging Het
Gm4924 A G 10: 82,214,875 (GRCm39) Q891R unknown Het
Gpc2 T C 5: 138,274,784 (GRCm39) probably benign Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Herc2 A G 7: 55,834,056 (GRCm39) N3087S probably damaging Het
Ifi204 C T 1: 173,579,193 (GRCm39) probably null Het
Imp4 C T 1: 34,479,128 (GRCm39) R4W unknown Het
Itfg2 A G 6: 128,401,770 (GRCm39) S3P probably damaging Het
Kcnn3 C T 3: 89,428,536 (GRCm39) T254I possibly damaging Het
Kics2 C T 10: 121,586,416 (GRCm39) Q244* probably null Het
Kpna1 A G 16: 35,853,644 (GRCm39) I425V probably benign Het
Krt23 A T 11: 99,383,755 (GRCm39) S46T probably damaging Het
Loxl4 C A 19: 42,596,099 (GRCm39) W118L probably damaging Het
Lrrc37 T C 11: 103,509,721 (GRCm39) Y749C unknown Het
Lysmd2 T A 9: 75,533,075 (GRCm39) L10Q probably damaging Het
Mcm5 T A 8: 75,851,418 (GRCm39) probably benign Het
Mctp2 T A 7: 71,909,178 (GRCm39) D45V probably damaging Het
Mdfic2 T A 6: 98,318,899 (GRCm39) N22I possibly damaging Het
Mfsd10 T C 5: 34,791,940 (GRCm39) T341A probably benign Het
Micu1 T A 10: 59,586,335 (GRCm39) L170Q probably damaging Het
Msantd5 T C 11: 51,125,481 (GRCm39) S135P probably benign Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Myo15a A T 11: 60,369,952 (GRCm39) Q904L probably benign Het
Nlrp4e A T 7: 23,020,403 (GRCm39) M297L probably benign Het
Nptn A G 9: 58,558,498 (GRCm39) probably benign Het
Oas3 A C 5: 120,912,170 (GRCm39) D73E probably damaging Het
Or12j5 T A 7: 140,084,222 (GRCm39) H50L probably benign Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or6n1 T C 1: 173,917,341 (GRCm39) L245P probably damaging Het
Pck1 C G 2: 172,997,018 (GRCm39) A220G probably benign Het
Pigq G A 17: 26,156,233 (GRCm39) T65I probably damaging Het
Pld2 T C 11: 70,431,696 (GRCm39) F9L probably damaging Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Pnkd A G 1: 74,386,602 (GRCm39) R138G possibly damaging Het
Ralgapa1 A T 12: 55,781,881 (GRCm39) I781N probably damaging Het
Ranbp2 A G 10: 58,328,719 (GRCm39) I2873V probably benign Het
Rpn2 C A 2: 157,139,458 (GRCm39) Q283K probably benign Het
Shmt2 A G 10: 127,355,561 (GRCm39) S178P possibly damaging Het
Shroom3 A G 5: 93,112,401 (GRCm39) K1921E probably benign Het
Slc20a1 A G 2: 129,051,142 (GRCm39) S600G probably damaging Het
Slco1a7 A G 6: 141,668,830 (GRCm39) V534A possibly damaging Het
Slit1 C T 19: 41,594,951 (GRCm39) V1140I probably benign Het
Sncg T C 14: 34,095,640 (GRCm39) S51G possibly damaging Het
Spon2 C A 5: 33,372,935 (GRCm39) D256Y possibly damaging Het
Srcap G T 7: 127,159,874 (GRCm39) R3250L unknown Het
Sun1 T G 5: 139,231,121 (GRCm39) Y763* probably null Het
Synj1 A T 16: 90,735,513 (GRCm39) F1480Y probably benign Het
Tbc1d30 T A 10: 121,132,716 (GRCm39) N216I probably damaging Het
Tent2 A T 13: 93,284,160 (GRCm39) L465* probably null Het
Tgfb1 A T 7: 25,388,580 (GRCm39) K39* probably null Het
Tmem87a A G 2: 120,224,841 (GRCm39) probably null Het
Tmem8b C A 4: 43,681,982 (GRCm39) R452S probably benign Het
Tnfsf13b A G 8: 10,056,966 (GRCm39) I42V probably benign Het
Trpc2 A G 7: 101,745,090 (GRCm39) T769A possibly damaging Het
Ttc3 A G 16: 94,236,389 (GRCm39) T1033A probably benign Het
Ttll13 C T 7: 79,906,751 (GRCm39) A473V probably damaging Het
U2surp G A 9: 95,346,468 (GRCm39) R908* probably null Het
Ube2s A G 7: 4,814,510 (GRCm39) Y17H probably damaging Het
Vmn1r94 A T 7: 19,901,509 (GRCm39) M265K probably benign Het
Vmn2r23 T C 6: 123,719,038 (GRCm39) I797T possibly damaging Het
Yipf3 A T 17: 46,559,895 (GRCm39) E70D probably benign Het
Zcchc14 G A 8: 122,331,969 (GRCm39) P465S unknown Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp707 T C 15: 75,845,468 (GRCm39) S111P Het
Zfp738 T C 13: 67,819,457 (GRCm39) E178G possibly damaging Het
Zfr A T 15: 12,136,757 (GRCm39) N138I unknown 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
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'- TCACCCCAGCATGAATATCTG -3'
(R):5'- AGGCGTCTAGTGAGAACAATGC -3'

Sequencing Primer
(F):5'- CTATGAAAACCGACAAAATGTTGAG -3'
(R):5'- ATGCAAATGTCTTACATCCGC -3'
Posted On 2022-01-20