Incidental Mutation 'R0526:Myo6'
ID 48934
Institutional Source Beutler Lab
Gene Symbol Myo6
Ensembl Gene ENSMUSG00000033577
Gene Name myosin VI
Synonyms Myo6, Tlc, rsv
MMRRC Submission 038719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0526 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 80072313-80219011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80190823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 791 (S791R)
Ref Sequence ENSEMBL: ENSMUSP00000075501 (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: S791R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: S791R

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 possibly damaging
Transcript: ENSMUST00000076140
AA Change: S791R

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: S791R

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: S791R

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: S791R

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: S791R
SMART Domains Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: S791R

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: S791R
SMART Domains Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: S791R

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: ENSMUST00000139981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156199
Predicted Effect unknown
Transcript: ENSMUST00000184480
AA Change: S791R
SMART Domains Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: S791R

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Gigyf2 T A 1: 87,349,215 (GRCm39) M664K probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Itprid2 A G 2: 79,487,690 (GRCm39) D591G probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Man1c1 G T 4: 134,296,379 (GRCm39) Y430* probably null Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Serpina10 A T 12: 103,583,127 (GRCm39) L439Q probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbed6 T C 1: 133,586,472 (GRCm39) I288M probably damaging Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S 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
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
Predicted Primers PCR Primer
(F):5'- GGACCATGACATGTAGTCAAATGTGCTT -3'
(R):5'- ACTTGCACCACTGACCTTCAAGAAAT -3'

Sequencing Primer
(F):5'- GTATACCCTGCTAAGATATTCCCG -3'
(R):5'- acatccctcaaactatctcacttc -3'
Posted On 2013-06-12