Mutagenetix > Incidental Mutation

Incidental Mutation 'R1082:Myo6'

85872

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Myo6, Tlc, rsv

MMRRC Submission

039168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80072313-80219011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80195303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 891 (T891M)

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: T891M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: T891M

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: T891M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: T891M

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: T891M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: T891M

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: T891M

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: T891M

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: T891M

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: T891M

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: ENSMUST00000139981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156199

Predicted Effect

unknown
Transcript: ENSMUST00000184480
AA Change: T891M

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: T891M

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,879,332 (GRCm39)	R239C	possibly damaging	Het
Aass	T	A	6: 23,093,907 (GRCm39)	D138V	probably damaging	Het
Adam30	T	C	3: 98,069,606 (GRCm39)	S480P	probably benign	Het
Bdkrb2	T	A	12: 105,558,851 (GRCm39)	M364K	probably benign	Het
Bnc2	T	C	4: 84,464,572 (GRCm39)	D67G	probably damaging	Het
Cfap52	A	G	11: 67,815,998 (GRCm39)	I595T	probably damaging	Het
Clspn	A	T	4: 126,471,572 (GRCm39)	N909Y	possibly damaging	Het
Ddx46	T	C	13: 55,802,909 (GRCm39)	V477A	possibly damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah3	A	G	7: 119,677,668 (GRCm39)	S419P	probably damaging	Het
Fat3	A	G	9: 15,917,911 (GRCm39)	F1504S	probably damaging	Het
Guf1	G	T	5: 69,724,555 (GRCm39)	V416L	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,783 (GRCm39)	D298G	probably damaging	Het
Mipol1	A	T	12: 57,372,402 (GRCm39)	I154F	probably damaging	Het
Myo18b	A	G	5: 112,908,280 (GRCm39)	S1998P	probably damaging	Het
Nbeal1	T	A	1: 60,351,385 (GRCm39)	I2461K	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or7e178	A	T	9: 20,225,765 (GRCm39)	H150Q	possibly damaging	Het
Pi4ka	A	T	16: 17,207,216 (GRCm39)	S30T	probably damaging	Het
Ppp1r26	A	G	2: 28,342,146 (GRCm39)	D592G	probably damaging	Het
Ptp4a2	T	C	4: 129,741,580 (GRCm39)	F157L	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Shank3	T	C	15: 89,433,574 (GRCm39)	S1365P	probably damaging	Het
Slc27a6	T	A	18: 58,689,632 (GRCm39)	Y33N	probably damaging	Het
Slco1a7	C	T	6: 141,657,859 (GRCm39)	G560S	probably damaging	Het
Speg	T	A	1: 75,391,782 (GRCm39)	S1572T	possibly damaging	Het
Taf6	G	A	5: 138,180,949 (GRCm39)	R211C	possibly damaging	Het
Tyrobp	T	C	7: 30,114,033 (GRCm39)	S65P	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
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
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'- TTATGAGGTCCCTCACCTCCACAG -3'
(R):5'- GAGTTTGAGGACATCTGCCATCCC -3'

Sequencing Primer
(F):5'- GCTAGTTCAAGGTCACCCCAG -3'
(R):5'- cctctcctcttcctccttcc -3'

Posted On

2013-11-18