Incidental Mutation 'R7492:Myo6'
ID 580848
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 045566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7492 (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 80195328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 899 (Y899*)
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: Y899*
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: Y899*

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: Y899*
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: Y899*

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: Y899*
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: Y899*

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: Y899*
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: Y899*

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: Y899*
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: Y899*

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: Y899*
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: Y899*

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
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,560 (GRCm39) D819G possibly damaging Het
Abca13 A T 11: 9,243,167 (GRCm39) I1677L probably benign Het
Ablim2 A G 5: 35,998,673 (GRCm39) S367G probably benign Het
Afdn G C 17: 14,068,638 (GRCm39) probably null Het
Aldh6a1 A G 12: 84,483,640 (GRCm39) L302P probably damaging Het
Ank3 A G 10: 69,718,357 (GRCm39) D536G unknown Het
Ankrd17 A G 5: 90,381,807 (GRCm39) V2454A possibly damaging Het
Apol7e G A 15: 77,601,656 (GRCm39) E85K possibly damaging Het
Atmin A G 8: 117,683,657 (GRCm39) D439G probably damaging Het
AU040320 G T 4: 126,741,648 (GRCm39) C952F possibly damaging Het
Btbd8 G A 5: 107,658,373 (GRCm39) E1648K probably benign Het
C6 A G 15: 4,761,196 (GRCm39) S19G probably benign Het
Ccdc180 A T 4: 45,930,009 (GRCm39) probably null Het
Cntn1 A C 15: 92,212,423 (GRCm39) T862P probably benign Het
Col5a1 T C 2: 27,859,812 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,031,650 (GRCm39) K964E probably damaging Het
Dnajc18 T C 18: 35,819,846 (GRCm39) Y145C probably damaging Het
Dsc1 C T 18: 20,240,737 (GRCm39) C196Y possibly damaging Het
Efcab11 A C 12: 99,844,660 (GRCm39) I58R possibly damaging Het
Fam81b T A 13: 76,419,398 (GRCm39) I51F probably benign Het
Fbln1 G A 15: 85,111,262 (GRCm39) V139M probably damaging Het
Fbxw25 A G 9: 109,493,598 (GRCm39) probably null Het
Fech C T 18: 64,600,842 (GRCm39) W220* probably null Het
Fgl1 C T 8: 41,644,624 (GRCm39) W293* probably null Het
Firrm A G 1: 163,786,897 (GRCm39) I724T probably benign Het
Foxi2 T C 7: 135,012,301 (GRCm39) L63P probably damaging Het
Frmpd1 A G 4: 45,285,237 (GRCm39) R1353G possibly damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Galnt5 T A 2: 57,916,048 (GRCm39) probably null Het
Glb1 A T 9: 114,303,017 (GRCm39) I618F probably damaging Het
Hs2st1 A T 3: 144,141,357 (GRCm39) M237K probably benign Het
Ighm T C 12: 113,386,293 (GRCm39) D19G Het
Il1f10 A G 2: 24,182,829 (GRCm39) D35G probably benign Het
Itpr2 G A 6: 146,292,436 (GRCm39) T419I probably damaging Het
Khdc1a A T 1: 21,420,542 (GRCm39) E54V possibly damaging Het
Kif19a A G 11: 114,681,065 (GRCm39) D991G probably benign Het
Klhl18 A C 9: 110,257,843 (GRCm39) Y532* probably null Het
Lama1 T C 17: 68,124,646 (GRCm39) F2902S Het
Lrba T C 3: 86,571,835 (GRCm39) S2380P probably damaging Het
Lrp2 T A 2: 69,367,925 (GRCm39) I196F probably damaging Het
Macf1 T C 4: 123,369,524 (GRCm39) K1746E possibly damaging Het
Megf10 T C 18: 57,424,866 (GRCm39) Y1002H probably benign Het
Megf8 A G 7: 25,053,273 (GRCm39) T1815A probably benign Het
Mtg1 T C 7: 139,724,610 (GRCm39) L162P probably damaging Het
Nlrp9a A T 7: 26,257,081 (GRCm39) D233V probably damaging Het
Or10al6 A T 17: 38,082,571 (GRCm39) Q9L possibly damaging Het
Or2z2 T A 11: 58,346,715 (GRCm39) N20I probably benign Het
Or4k45 C A 2: 111,395,166 (GRCm39) V208L probably benign Het
Or6c201 T A 10: 128,969,509 (GRCm39) I43F probably damaging Het
Or8k36-ps1 T A 2: 86,437,063 (GRCm39) N284I unknown Het
Parvb A T 15: 84,174,651 (GRCm39) Q148L probably damaging Het
Pcdhb11 C T 18: 37,556,497 (GRCm39) T609M probably damaging Het
Pcdhga3 A T 18: 37,809,178 (GRCm39) T544S probably benign Het
Pkd1 C G 17: 24,788,715 (GRCm39) I824M probably benign Het
Pkd1l2 A T 8: 117,794,849 (GRCm39) L370Q probably damaging Het
Plcb1 G T 2: 135,093,684 (GRCm39) E166* probably null Het
Pnpt1 A G 11: 29,085,522 (GRCm39) I138V probably benign Het
Pou4f3 T C 18: 42,528,996 (GRCm39) L313P probably damaging Het
Pramel21 C A 4: 143,342,744 (GRCm39) Q284K not run Het
Prep A G 10: 44,996,910 (GRCm39) Y396C probably damaging Het
Prkd3 A T 17: 79,269,974 (GRCm39) C562* probably null Het
Prss12 T A 3: 123,276,425 (GRCm39) C351* probably null Het
Rnf41 C A 10: 128,274,283 (GRCm39) H312N probably damaging Het
Ror1 C T 4: 100,298,256 (GRCm39) T543I probably benign Het
Rreb1 G A 13: 38,115,724 (GRCm39) V1028I probably benign Het
Setd2 T A 9: 110,423,700 (GRCm39) S474T Het
Slc1a2 T A 2: 102,570,275 (GRCm39) C184* probably null Het
Slc2a4 G A 11: 69,837,202 (GRCm39) T78I probably benign Het
Slc4a4 T A 5: 89,277,509 (GRCm39) I317N possibly damaging Het
Smad9 G A 3: 54,693,747 (GRCm39) probably null Het
Sst T C 16: 23,708,576 (GRCm39) E85G probably damaging Het
Sting1 T C 18: 35,871,766 (GRCm39) Y162C probably damaging Het
Svep1 T G 4: 58,066,468 (GRCm39) E3205D possibly damaging Het
Tmc7 G T 7: 118,141,189 (GRCm39) S647R probably benign Het
Trnt1 T C 6: 106,751,493 (GRCm39) S157P possibly damaging Het
Ttc6 A T 12: 57,719,922 (GRCm39) H831L probably benign Het
Vmn1r121 A G 7: 20,832,095 (GRCm39) F115S probably damaging Het
Vwa7 A G 17: 35,238,020 (GRCm39) D207G possibly damaging Het
Vwde C A 6: 13,204,980 (GRCm39) K300N probably null Het
Zfp418 A G 7: 7,184,396 (GRCm39) T120A possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H 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
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
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'- GGCGTCTAGTGAGAACAATGC -3'

Sequencing Primer
(F):5'- AAGGTACGAATATGATTTTGTTGGTC -3'
(R):5'- ATGCAAATGTCTTACATCCGC -3'
Posted On 2019-10-17