Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02271:Myo6'

287135

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 #

IGL02271

Quality Score

Status

Chromosome

Chromosomal Location

80072313-80219011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80168113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 426 (T426A)

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: T426A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: T426A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: T426A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: T426A

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: T426A

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: T426A

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: T426A

Domain	Start	End	E-Value	Type
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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn1	C	T	1: 158,338,520 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,366,290 (GRCm39)	V1068F	probably benign	Het
Cand1	A	T	10: 119,047,626 (GRCm39)	N621K	probably damaging	Het
Cd44	C	T	2: 102,661,732 (GRCm39)	E418K	possibly damaging	Het
Clip2	A	T	5: 134,531,425 (GRCm39)	N758K	probably benign	Het
Cst11	A	T	2: 148,613,161 (GRCm39)	Y55N	probably damaging	Het
Cytip	A	T	2: 58,023,872 (GRCm39)	L316*	probably null	Het
Ddx52	T	C	11: 83,843,057 (GRCm39)	M352T	probably damaging	Het
Fancd2	G	A	6: 113,512,720 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,068 (GRCm39)	E2573D	probably benign	Het
Fbxl13	T	G	5: 21,695,454 (GRCm39)	D646A	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Grid2ip	A	G	5: 143,374,664 (GRCm39)	D928G	probably benign	Het
Hmgxb3	A	G	18: 61,265,285 (GRCm39)	L1231P	probably damaging	Het
Ifitm7	A	G	16: 13,801,541 (GRCm39)	F73L	probably damaging	Het
Ikbkb	T	A	8: 23,155,919 (GRCm39)	T583S	probably benign	Het
Kdm6b	G	A	11: 69,296,893 (GRCm39)	A458V	possibly damaging	Het
Klra2	T	C	6: 131,207,180 (GRCm39)	K143R	probably benign	Het
Kmt2d	A	G	15: 98,764,309 (GRCm39)	S42P	possibly damaging	Het
Krt78	T	A	15: 101,857,028 (GRCm39)	M360L	probably benign	Het
Lamb1	A	G	12: 31,350,250 (GRCm39)	N677S	probably damaging	Het
Lrrc9	G	A	12: 72,557,155 (GRCm39)	V1407I	probably benign	Het
Net1	T	C	13: 3,937,663 (GRCm39)	Y146C	probably damaging	Het
Nlrp4d	T	A	7: 10,122,625 (GRCm39)		noncoding transcript	Het
Notch4	A	T	17: 34,787,445 (GRCm39)	N335I	probably damaging	Het
Or14j6	A	T	17: 38,215,134 (GRCm39)	E232D	probably benign	Het
Or5ac20	A	T	16: 59,104,584 (GRCm39)	I92K	probably damaging	Het
Or8b53	A	T	9: 38,667,784 (GRCm39)	T267S	probably benign	Het
Pax3	A	T	1: 78,171,969 (GRCm39)	H80Q	probably damaging	Het
Pclo	A	T	5: 14,729,508 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,348,567 (GRCm39)	D869G	probably damaging	Het
Per2	T	C	1: 91,373,332 (GRCm39)	Y152C	probably damaging	Het
Pilrb2	T	C	5: 137,865,125 (GRCm39)	D223G	probably benign	Het
Rag1	T	A	2: 101,473,733 (GRCm39)	I470F	probably damaging	Het
Rap1gap	T	C	4: 137,445,317 (GRCm39)	S333P	probably damaging	Het
Rundc3b	A	G	5: 8,542,530 (GRCm39)	Y430H	probably damaging	Het
Ryr1	T	C	7: 28,793,472 (GRCm39)	D1332G	probably benign	Het
Sgo1	G	A	17: 53,986,567 (GRCm39)	A208V	possibly damaging	Het
Skint5	C	T	4: 113,794,778 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc28a3	A	T	13: 58,706,451 (GRCm39)	S597T	probably benign	Het
Slc4a5	T	A	6: 83,248,085 (GRCm39)		probably benign	Het
Slc52a3	A	G	2: 151,847,448 (GRCm39)		probably benign	Het
Stac3	A	G	10: 127,339,768 (GRCm39)	D158G	probably benign	Het
Tdo2	T	C	3: 81,871,224 (GRCm39)		probably benign	Het
Usp25	A	T	16: 76,912,335 (GRCm39)	E1018V	probably damaging	Het
Vmn1r46	T	A	6: 89,953,886 (GRCm39)	F245Y	probably damaging	Het

Other mutations in Myo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-04-16