Incidental Mutation 'R8161:Myo6'
ID 633523
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 067587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8161 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80124991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 23 (D23E)
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: D23E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: D23E

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: D23E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: D23E

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 possibly damaging
Transcript: ENSMUST00000113266
AA Change: D23E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: D23E

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: D23E
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: D23E

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: D23E
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: D23E

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: D23E
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: D23E

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T C 9: 101,815,968 (GRCm39) L51P probably damaging Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ank2 T C 3: 126,825,778 (GRCm39) N371S Het
Arhgef5 T A 6: 43,260,885 (GRCm39) C1437S probably damaging Het
Atp8b1 A T 18: 64,690,058 (GRCm39) L558Q probably damaging Het
Bsn T C 9: 108,016,729 (GRCm39) K94R probably benign Het
Cacna2d1 T A 5: 16,519,935 (GRCm39) V435D probably damaging Het
Chd3 T C 11: 69,241,711 (GRCm39) N1474S probably damaging Het
Chd7 A G 4: 8,855,038 (GRCm39) D2089G probably damaging Het
Col11a2 T A 17: 34,270,264 (GRCm39) M492K unknown Het
Col16a1 A T 4: 129,954,262 (GRCm39) T502S unknown Het
Csl A T 10: 99,594,182 (GRCm39) N294K probably damaging Het
Dnah5 T A 15: 28,350,850 (GRCm39) M2624K possibly damaging Het
Dync1li1 C A 9: 114,535,251 (GRCm39) H172N probably damaging Het
Eef1a1 C T 9: 78,387,672 (GRCm39) V59I probably benign Het
Ephb1 T C 9: 102,072,012 (GRCm39) K256E probably damaging Het
Erlin2 C A 8: 27,518,970 (GRCm39) T78N probably damaging Het
Fbxo10 A G 4: 45,044,793 (GRCm39) L614P probably damaging Het
Fer1l4 A T 2: 155,866,555 (GRCm39) D1555E probably benign Het
Gabrr2 A G 4: 33,082,566 (GRCm39) D230G probably damaging Het
Gen1 A T 12: 11,291,465 (GRCm39) S840T probably benign Het
Glyctk G A 9: 106,034,892 (GRCm39) T58I probably benign Het
Gm12258 G A 11: 58,750,138 (GRCm39) A438T unknown Het
Gm14305 A G 2: 176,413,298 (GRCm39) T397A probably benign Het
Hnrnpu G T 1: 178,165,067 (GRCm39) R24S possibly damaging Het
Iffo2 A G 4: 139,302,265 (GRCm39) N3D possibly damaging Het
Insr C T 8: 3,308,660 (GRCm39) M125I probably damaging Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Kcnj16 T A 11: 110,915,341 (GRCm39) M1K probably null Het
Kcns3 G A 12: 11,169,764 (GRCm39) probably benign Het
Kmt2c A G 5: 25,579,562 (GRCm39) V578A probably benign Het
Krt79 T C 15: 101,839,137 (GRCm39) K444R probably damaging Het
Mtg2 T C 2: 179,727,368 (GRCm39) V340A probably benign Het
Mtr A C 13: 12,236,372 (GRCm39) L618R probably damaging Het
Nos1ap A G 1: 170,218,328 (GRCm39) V27A probably damaging Het
Npc1 A T 18: 12,328,129 (GRCm39) I1060K possibly damaging Het
Nrbp1 T A 5: 31,401,193 (GRCm39) L23* probably null Het
Or10ag52 T C 2: 87,044,148 (GRCm39) I304T probably damaging Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or6c6c A T 10: 129,540,753 (GRCm39) K2I possibly damaging Het
Or8b3 C A 9: 38,314,803 (GRCm39) T211K probably damaging Het
Or9s13 G A 1: 92,548,078 (GRCm39) R150H probably benign Het
Pcdhgc5 A T 18: 37,954,615 (GRCm39) T630S probably damaging Het
Pgm2 C A 5: 64,269,503 (GRCm39) T530K probably damaging Het
Phf20l1 A T 15: 66,475,922 (GRCm39) N185I probably damaging Het
Pkp2 A G 16: 16,031,313 (GRCm39) D26G probably damaging Het
Rangap1 C T 15: 81,594,696 (GRCm39) E378K probably benign Het
Rapgef1 A C 2: 29,569,210 (GRCm39) I43L probably benign Het
Rbfox1 A G 16: 7,094,892 (GRCm39) T111A Het
Rptn GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA 3: 93,304,000 (GRCm39) probably benign Het
Spata16 A T 3: 26,894,811 (GRCm39) M287L probably benign Het
Speer4a2 T C 5: 26,289,690 (GRCm39) S246G possibly damaging Het
Stau2 A G 1: 16,416,049 (GRCm39) M470T probably benign Het
Tcf12 T C 9: 71,922,933 (GRCm39) Y70C probably damaging Het
Tsc22d1 C T 14: 76,654,460 (GRCm39) T313M probably benign Het
Vmn1r52 T A 6: 90,156,239 (GRCm39) M181K possibly damaging Het
Zbtb48 A T 4: 152,106,567 (GRCm39) C345S probably damaging Het
Zfp628 G A 7: 4,921,958 (GRCm39) R60Q probably damaging Het
Zfp638 T C 6: 83,906,713 (GRCm39) S293P possibly damaging Het
Zkscan17 G A 11: 59,393,770 (GRCm39) P183S probably benign Het
Zscan12 G T 13: 21,547,897 (GRCm39) K26N probably benign 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
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
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'- ACTTGAGATTTATATGTGCACGGG -3'
(R):5'- ACACAGGTCCCATTTAATCAAGG -3'

Sequencing Primer
(F):5'- TGAGATTTATATGTGCACGGGTAAAG -3'
(R):5'- CAGGTCCCATTTAATCAAGGAAGTC -3'
Posted On 2020-07-13