Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01939:Myo6'

180790

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 #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

80072313-80219011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80168100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 421 (D421E)

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 damaging
Transcript: ENSMUST00000035889
AA Change: D421E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: D421E

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 damaging
Transcript: ENSMUST00000076140
AA Change: D421E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: D421E

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 damaging
Transcript: ENSMUST00000113266
AA Change: D421E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: D421E

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: D421E

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: D421E

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: D421E

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: D421E

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: D421E

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: D421E

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,885,925 (GRCm39)	D22Y	probably damaging	Het
Ak7	T	C	12: 105,701,183 (GRCm39)	V242A	probably benign	Het
Cacna1b	T	C	2: 24,551,769 (GRCm39)	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,976,380 (GRCm39)	H267L	probably benign	Het
Ces1b	C	T	8: 93,806,059 (GRCm39)	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,632,286 (GRCm39)	D355V	probably damaging	Het
Col24a1	T	C	3: 145,021,005 (GRCm39)	S459P	probably damaging	Het
Crygd	T	C	1: 65,101,185 (GRCm39)	T137A	probably benign	Het
Dctn4	T	A	18: 60,677,202 (GRCm39)	M174K	probably benign	Het
Evi5	A	G	5: 107,964,790 (GRCm39)		probably benign	Het
Fat2	T	G	11: 55,174,806 (GRCm39)	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,353,606 (GRCm39)	E317V	probably damaging	Het
Foxf2	G	T	13: 31,810,697 (GRCm39)	S212I	probably damaging	Het
Gm21759	T	A	5: 8,230,685 (GRCm39)		probably benign	Het
Gm5414	A	G	15: 101,534,105 (GRCm39)		probably benign	Het
Gm7275	T	C	16: 47,893,946 (GRCm39)		noncoding transcript	Het
Hspa9	T	C	18: 35,071,761 (GRCm39)	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,501,168 (GRCm39)	I515V	possibly damaging	Het
Ins1	G	T	19: 52,253,173 (GRCm39)	A38S	probably damaging	Het
Klhl31	A	G	9: 77,562,488 (GRCm39)	N418D	probably benign	Het
Magi3	T	C	3: 103,961,778 (GRCm39)	K417E	probably damaging	Het
Msh4	A	G	3: 153,563,226 (GRCm39)	Y823H	probably damaging	Het
Myom3	T	C	4: 135,492,900 (GRCm39)	S150P	possibly damaging	Het
Nectin1	C	T	9: 43,703,871 (GRCm39)		probably benign	Het
Nkx1-2	A	T	7: 132,201,203 (GRCm39)	I18N	probably damaging	Het
Or4s2b	A	G	2: 88,509,077 (GRCm39)	T286A	probably damaging	Het
Or5b113	A	T	19: 13,342,807 (GRCm39)	I272F	probably benign	Het
Or8g33	A	C	9: 39,337,634 (GRCm39)	H244Q	probably damaging	Het
Or9g4	T	C	2: 85,505,285 (GRCm39)	D70G	probably damaging	Het
Pde8b	T	C	13: 95,232,232 (GRCm39)	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,822,167 (GRCm39)	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,655,420 (GRCm39)	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,370,158 (GRCm39)		probably benign	Het
Rabggtb	A	G	3: 153,617,650 (GRCm39)	V16A	probably damaging	Het
Rangap1	A	T	15: 81,604,864 (GRCm39)	C82S	probably damaging	Het
Rasal2	T	C	1: 157,003,480 (GRCm39)	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,856,889 (GRCm39)	E449V	probably damaging	Het
Rrp12	A	T	19: 41,859,334 (GRCm39)	H1143Q	probably damaging	Het
Scap	T	C	9: 110,208,549 (GRCm39)	I530T	probably benign	Het
Sel1l	T	A	12: 91,783,021 (GRCm39)	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,223,648 (GRCm39)	M280T	probably damaging	Het
Slc39a10	T	A	1: 46,871,895 (GRCm39)	H348L	probably benign	Het
Slc7a2	T	C	8: 41,367,120 (GRCm39)	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,396,488 (GRCm39)	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,665,781 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,365,262 (GRCm39)		probably null	Het
Tpo	T	C	12: 30,134,646 (GRCm39)	T771A	possibly damaging	Het
Tpr	G	A	1: 150,289,496 (GRCm39)	R609H	possibly damaging	Het
Usp34	T	A	11: 23,295,141 (GRCm39)		probably benign	Het
Vmn1r193	G	T	13: 22,403,893 (GRCm39)	S33*	probably null	Het
Vmn2r104	A	C	17: 20,250,187 (GRCm39)	S695A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r24	A	G	6: 123,764,404 (GRCm39)	D427G	probably benign	Het
Zfp362	A	G	4: 128,680,846 (GRCm39)	S160P	probably benign	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
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
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

2014-05-07