Mutagenetix > Incidental Mutation

Incidental Mutation 'R6693:Myo6'

528175

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Myo6, Tlc, rsv

MMRRC Submission

044811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80072313-80219011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80153013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 215 (N215K)

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: N215K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: N215K

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: N215K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: N215K

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: N215K

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

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: N215K

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: N215K

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: N215K

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: N215K

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: N215K

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: N215K

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: N215K

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

Meta Mutation Damage Score

0.3337

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,915 (GRCm39)	V1368A	probably benign	Het
Aak1	C	T	6: 86,942,497 (GRCm39)	S680L	unknown	Het
Adam25	A	T	8: 41,207,568 (GRCm39)	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,261,123 (GRCm39)	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,590,587 (GRCm39)	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,357,343 (GRCm39)	N436S	probably damaging	Het
Cfap65	T	C	1: 74,956,445 (GRCm39)	I1045V	probably benign	Het
Chrm3	T	C	13: 9,927,458 (GRCm39)	N526S	probably benign	Het
Cpeb2	A	T	5: 43,443,255 (GRCm39)	D982V	probably damaging	Het
Fbxw27	T	C	9: 109,617,112 (GRCm39)	I130V	probably benign	Het
Glb1l	T	C	1: 75,185,745 (GRCm39)	D61G	probably damaging	Het
Herc1	G	A	9: 66,386,258 (GRCm39)	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,278,965 (GRCm39)	M39L	probably benign	Het
Kif17	C	A	4: 138,013,791 (GRCm39)	Q236K	probably benign	Het
Klhl25	T	C	7: 75,516,561 (GRCm39)	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,864,252 (GRCm39)	M287L	probably benign	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245 (GRCm39)	T392S	probably benign	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Or9m1	A	G	2: 87,733,652 (GRCm39)	Y123H	probably damaging	Het
Pax9	T	A	12: 56,756,516 (GRCm39)	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,607,394 (GRCm39)	T209S	probably benign	Het
Pdpk1	A	T	17: 24,330,100 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,159,866 (GRCm39)	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,540,088 (GRCm39)	V545A	probably benign	Het
Scg2	G	T	1: 79,413,737 (GRCm39)	Q329K	probably benign	Het
Shroom3	G	A	5: 93,088,617 (GRCm39)	A456T	possibly damaging	Het
Slc12a7	G	T	13: 73,945,656 (GRCm39)	A489S	probably benign	Het
Slc16a4	T	C	3: 107,210,380 (GRCm39)	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,930,162 (GRCm39)	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,806,107 (GRCm39)	L102*	probably null	Het
Tgif1	T	A	17: 71,157,885 (GRCm39)		probably benign	Het
Tmem8b	A	G	4: 43,669,837 (GRCm39)	E111G	probably benign	Het
Zfp971	G	T	2: 177,675,224 (GRCm39)	K274N	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
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
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'- AATGTTCCTCCTTGCAGAGATG -3'
(R):5'- GGTGATCACGTACATTATGGCATG -3'

Sequencing Primer
(F):5'- GTTCCTCCTTGCAGAGATGTAATATG -3'
(R):5'- CACGTACATTATGGCATGTTATCAAG -3'

Posted On

2018-07-24