Incidental Mutation 'IGL02951:Myo6'
ID 366009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02951
Quality Score
Status
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80171516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 506 (V506I)
Ref Sequence ENSEMBL: ENSMUSP00000108891 (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: V506I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: V506I

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: V506I

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: V506I

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: V506I

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: V506I

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: V506I
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: V506I

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: V506I
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: V506I

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 noncoding transcript
Transcript: ENSMUST00000130496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183413
Predicted Effect unknown
Transcript: ENSMUST00000184480
AA Change: V506I
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: V506I

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,290,536 (GRCm39) probably benign Het
Acot10 G A 15: 20,665,868 (GRCm39) T291I probably benign Het
Adam34l T G 8: 44,080,125 (GRCm39) H33P possibly damaging Het
Atp13a3 A G 16: 30,157,439 (GRCm39) probably null Het
Atp2a1 C T 7: 126,049,399 (GRCm39) V548M possibly damaging Het
Bsn G A 9: 107,992,812 (GRCm39) S980L probably damaging Het
Ccdc158 A G 5: 92,797,865 (GRCm39) M425T probably damaging Het
Cdh23 A G 10: 60,147,143 (GRCm39) L2733S probably damaging Het
Chd3 C T 11: 69,251,874 (GRCm39) probably null Het
Cimap1d T C 10: 79,475,811 (GRCm39) N251S probably benign Het
Dock2 T C 11: 34,260,448 (GRCm39) probably benign Het
Elfn2 T C 15: 78,556,082 (GRCm39) K822E probably damaging Het
Eps15l1 G A 8: 73,112,240 (GRCm39) S764L probably benign Het
Etl4 C A 2: 20,806,348 (GRCm39) probably benign Het
Faap24 C A 7: 35,092,376 (GRCm39) K180N probably damaging Het
Fhod1 G A 8: 106,057,862 (GRCm39) R888W probably damaging Het
Fus T C 7: 127,581,009 (GRCm39) probably benign Het
Gm3453 T C 14: 5,976,168 (GRCm38) E201G possibly damaging Het
Gnpat G T 8: 125,597,644 (GRCm39) D69Y probably benign Het
Gpaa1 T A 15: 76,217,019 (GRCm39) probably benign Het
Gsta1 A T 9: 78,149,819 (GRCm39) K211* probably null Het
Lct G T 1: 128,227,948 (GRCm39) Q1182K probably damaging Het
Mroh1 T C 15: 76,311,836 (GRCm39) L523P probably damaging Het
Mrpl46 A G 7: 78,425,200 (GRCm39) probably benign Het
Mst1r G T 9: 107,785,403 (GRCm39) V354F possibly damaging Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Nadk A C 4: 155,671,933 (GRCm39) K271Q probably benign Het
Nbas A G 12: 13,412,542 (GRCm39) R954G probably benign Het
Nbr1 T A 11: 101,462,805 (GRCm39) probably null Het
Nup88 T C 11: 70,835,698 (GRCm39) D587G possibly damaging Het
Oas1a A T 5: 121,043,727 (GRCm39) F135Y probably damaging Het
Obscn A G 11: 58,885,339 (GRCm39) probably benign Het
Or4k42 T G 2: 111,320,465 (GRCm39) I13L probably benign Het
Parp14 G A 16: 35,678,903 (GRCm39) T355I probably benign Het
Pdgfd G T 9: 6,288,494 (GRCm39) L43F probably damaging Het
Pou5f2 T C 13: 78,173,237 (GRCm39) S60P probably benign Het
Prp2 A G 6: 132,576,788 (GRCm39) N25S unknown Het
Ptprq A T 10: 107,503,321 (GRCm39) F779Y probably benign Het
Rims2 C T 15: 39,398,334 (GRCm39) R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 (GRCm39) S425* probably null Het
Rps21 T A 2: 179,899,840 (GRCm39) I59N probably damaging Het
Scn5a A T 9: 119,324,751 (GRCm39) F1359Y probably damaging Het
Slc35b2 A G 17: 45,875,694 (GRCm39) E67G probably damaging Het
Slc37a2 A G 9: 37,166,611 (GRCm39) F15L probably benign Het
Snapc4 A C 2: 26,260,847 (GRCm39) N465K probably benign Het
Spata31f1a C T 4: 42,850,696 (GRCm39) E487K probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taco1 A G 11: 105,960,353 (GRCm39) N98S probably benign Het
Tcea3 T C 4: 135,985,299 (GRCm39) probably null Het
Thada T C 17: 84,751,456 (GRCm39) S507G probably benign Het
Tmem132b T A 5: 125,864,611 (GRCm39) C906S probably damaging Het
Trpm2 A T 10: 77,765,112 (GRCm39) I963N possibly damaging Het
Usp10 A G 8: 120,673,825 (GRCm39) T397A probably benign Het
Usp3 G A 9: 66,449,832 (GRCm39) R160* probably null Het
Utp15 T C 13: 98,394,460 (GRCm39) Y144C probably damaging Het
Xpc G A 6: 91,483,831 (GRCm39) R172W 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
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
R9281:Myo6 UTSW 9 80,162,164 (GRCm39) nonsense probably null
Z1191:Myo6 UTSW 9 80,149,509 (GRCm39) nonsense probably null
Posted On 2015-12-18