Mutagenetix > Incidental Mutation

Incidental Mutation 'R0885:Myo6'

81169

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Myo6, Tlc, rsv

MMRRC Submission

039052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0885 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

80072313-80219011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80149503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

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: S150P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: S150P

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: S150P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: S150P

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: S150P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: S150P

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: S150P

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: S150P

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: S150P

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: S150P

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

unknown
Transcript: ENSMUST00000184480
AA Change: S150P

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: S150P

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

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 92.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	T	A	7: 29,980,094 (GRCm39)	Y46*	probably null	Het
Adam18	T	C	8: 25,141,802 (GRCm39)	K256E	probably damaging	Het
Adam20	T	A	8: 41,249,595 (GRCm39)	H568Q	probably benign	Het
Ambp	A	G	4: 63,069,705 (GRCm39)	L107P	probably damaging	Het
Art1	T	C	7: 101,756,541 (GRCm39)	F244S	probably damaging	Het
Asxl2	C	A	12: 3,551,458 (GRCm39)	L1067I	probably damaging	Het
Atm	T	C	9: 53,371,123 (GRCm39)	T2242A	probably benign	Het
Atp2c1	C	T	9: 105,298,772 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,934,617 (GRCm39)	Y2819H	probably damaging	Het
Caskin1	G	A	17: 24,724,668 (GRCm39)	R1152H	probably damaging	Het
Chd7	T	A	4: 8,866,432 (GRCm39)	L868Q	probably damaging	Het
Cyp2d40	T	C	15: 82,645,116 (GRCm39)	E178G	unknown	Het
Dclk1	G	T	3: 55,394,728 (GRCm39)	R103S	probably damaging	Het
Des	A	G	1: 75,337,374 (GRCm39)	T105A	probably damaging	Het
Ebf3	T	C	7: 136,827,613 (GRCm39)	T262A	probably benign	Het
Epha4	A	G	1: 77,359,576 (GRCm39)	V759A	probably damaging	Het
Fryl	A	T	5: 73,246,539 (GRCm39)	F1078I	probably damaging	Het
Il20	T	C	1: 130,838,518 (GRCm39)	I60V	probably benign	Het
Kif3c	A	T	12: 3,415,981 (GRCm39)	M1L	probably benign	Het
Lhfpl5	A	T	17: 28,795,011 (GRCm39)	I13F	probably damaging	Het
Lin28b	C	T	10: 45,257,324 (GRCm39)	G218E	probably damaging	Het
Lrp2	A	T	2: 69,312,697 (GRCm39)	N2530K	possibly damaging	Het
Matn2	T	A	15: 34,316,751 (GRCm39)	F31Y	possibly damaging	Het
Mcm6	T	C	1: 128,276,670 (GRCm39)	N307D	probably benign	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Mpdz	T	A	4: 81,287,829 (GRCm39)	T477S	probably benign	Het
Mrgprb3	C	A	7: 48,292,844 (GRCm39)	G236W	probably damaging	Het
Mrpl47	T	C	3: 32,784,335 (GRCm39)	D145G	probably damaging	Het
Naca	C	A	10: 127,876,048 (GRCm39)	S360*	probably null	Het
Or2ak6	C	T	11: 58,592,913 (GRCm39)	P129S	possibly damaging	Het
Phip	C	A	9: 82,757,448 (GRCm39)	A1575S	probably benign	Het
Pip4p1	T	C	14: 51,167,763 (GRCm39)	E54G	probably damaging	Het
Plxna2	T	C	1: 194,326,864 (GRCm39)	M266T	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prag1	T	C	8: 36,570,421 (GRCm39)	F335L	probably benign	Het
Prmt2	A	G	10: 76,058,399 (GRCm39)	Y137H	probably damaging	Het
Psme3ip1	C	A	8: 95,302,407 (GRCm39)	C208F	probably damaging	Het
Ptgds	T	C	2: 25,357,357 (GRCm39)	D184G	possibly damaging	Het
Ptpn5	T	C	7: 46,738,359 (GRCm39)	Y241C	probably benign	Het
Pxdn	G	A	12: 30,053,401 (GRCm39)	V1193M	probably benign	Het
Raet1e	T	A	10: 22,057,986 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,001,934 (GRCm39)	D282G	probably benign	Het
Sis	G	A	3: 72,819,282 (GRCm39)	R1425*	probably null	Het
Slco2a1	G	T	9: 102,959,582 (GRCm39)	M559I	probably damaging	Het
Spata4	C	T	8: 55,053,879 (GRCm39)	A15V	probably damaging	Het
Spop	T	C	11: 95,361,453 (GRCm39)	S14P	probably benign	Het
Tcof1	A	T	18: 60,968,922 (GRCm39)	D230E	possibly damaging	Het
Tubgcp5	T	A	7: 55,455,803 (GRCm39)	L277*	probably null	Het
Ubxn10	A	T	4: 138,447,881 (GRCm39)	V265E	probably damaging	Het
Ugt2b36	T	A	5: 87,239,848 (GRCm39)	Y179F	probably benign	Het
Wdr37	A	C	13: 8,885,288 (GRCm39)		probably null	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	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
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
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'- ACGCCTCAAGTAAACGCTTACAGG -3'
(R):5'- tgtgtgtgtgCTCTAACCAGCTC -3'

Sequencing Primer
(F):5'- GTAAACGCTTACAGGAACCCTTTG -3'
(R):5'- tgggggagtaacagggag -3'

Posted On

2013-11-07