Mutagenetix > Incidental Mutations

Incidental Mutation 'R1978:Myo6'

222022

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Tlc

MMRRC Submission

039991-MU

Accession Numbers

MGI:104785

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80165031-80311729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80228925 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 110 (D110V)

Ref Sequence

ENSEMBL: ENSMUSP00000108891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035889] [ENSMUST00000076140] [ENSMUST00000113266] [ENSMUST00000113268] [ENSMUST00000127779] [ENSMUST00000184480]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035889
AA Change: D110V

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: D110V

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

possibly damaging
Transcript: ENSMUST00000076140
AA Change: D110V

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: D110V

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: D110V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: D110V

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: D110V

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: D110V

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: D110V

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: D110V

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: D110V

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: D110V

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably damaging	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	probably damaging	Het

Other mutations in Myo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Myo6	APN	9	80292472	missense	probably damaging	0.98
IGL00584:Myo6	APN	9	80242273	splice site	probably benign
IGL00596:Myo6	APN	9	80281743	missense	possibly damaging	0.91
IGL00778:Myo6	APN	9	80283586	critical splice donor site	probably null
IGL01667:Myo6	APN	9	80289893	missense	unknown
IGL01939:Myo6	APN	9	80260818	missense	probably damaging	1.00
IGL02123:Myo6	APN	9	80264272	splice site	probably benign
IGL02271:Myo6	APN	9	80260831	missense	probably benign	0.01
IGL02512:Myo6	APN	9	80292519	critical splice donor site	probably null
IGL02716:Myo6	APN	9	80269694	missense	probably damaging	1.00
IGL02888:Myo6	APN	9	80269731	splice site	probably benign
IGL02890:Myo6	APN	9	80266174	missense	probably damaging	1.00
IGL02951:Myo6	APN	9	80264234	missense	possibly damaging	0.66
IGL02990:Myo6	APN	9	80276403	critical splice donor site	probably null
IGL03060:Myo6	APN	9	80260877	missense	probably benign	0.00
IGL03145:Myo6	APN	9	80300665	nonsense	probably null
IGL03306:Myo6	APN	9	80246555	missense	probably damaging	1.00
mayday_circler	UTSW	9	80246451	nonsense	probably null
torticollis	UTSW	9	80288217	critical splice donor site	probably null
truths	UTSW	9	80270039	nonsense	probably null
IGL03134:Myo6	UTSW	9	80292467	missense	probably damaging	0.96
R0023:Myo6	UTSW	9	80283534	missense	possibly damaging	0.62
R0023:Myo6	UTSW	9	80283534	missense	possibly damaging	0.62
R0124:Myo6	UTSW	9	80307774	missense	probably damaging	1.00
R0133:Myo6	UTSW	9	80273975	splice site	probably benign
R0207:Myo6	UTSW	9	80288056	missense	probably damaging	1.00
R0295:Myo6	UTSW	9	80283579	missense	probably damaging	0.98
R0389:Myo6	UTSW	9	80292466	missense	probably damaging	0.98
R0432:Myo6	UTSW	9	80273974	splice site	probably benign
R0526:Myo6	UTSW	9	80283541	missense	possibly damaging	0.61
R0791:Myo6	UTSW	9	80262374	splice site	probably benign
R0885:Myo6	UTSW	9	80242221	missense	probably damaging	1.00
R1082:Myo6	UTSW	9	80288021	missense	probably damaging	1.00
R1113:Myo6	UTSW	9	80245714	missense	probably damaging	1.00
R1184:Myo6	UTSW	9	80286382	nonsense	probably null
R1308:Myo6	UTSW	9	80245714	missense	probably damaging	1.00
R1498:Myo6	UTSW	9	80307679	missense	probably damaging	1.00
R1609:Myo6	UTSW	9	80288217	critical splice donor site	probably null
R1615:Myo6	UTSW	9	80307725	missense	probably damaging	1.00
R1771:Myo6	UTSW	9	80285800	missense	probably damaging	1.00
R1772:Myo6	UTSW	9	80270049	missense	possibly damaging	0.95
R1789:Myo6	UTSW	9	80300572	missense	probably damaging	1.00
R1962:Myo6	UTSW	9	80260835	missense	probably damaging	1.00
R2011:Myo6	UTSW	9	80307722	missense	probably damaging	0.99
R2092:Myo6	UTSW	9	80245682	missense	probably damaging	1.00
R2098:Myo6	UTSW	9	80281526	missense	probably damaging	1.00
R2206:Myo6	UTSW	9	80258455	missense	probably benign	0.01
R2286:Myo6	UTSW	9	80266212	missense	possibly damaging	0.82
R2429:Myo6	UTSW	9	80303301	critical splice donor site	probably null
R2696:Myo6	UTSW	9	80260894	missense	probably benign	0.00
R2897:Myo6	UTSW	9	80269611	splice site	probably null
R2898:Myo6	UTSW	9	80269611	splice site	probably null
R3881:Myo6	UTSW	9	80264256	missense	probably damaging	1.00
R4424:Myo6	UTSW	9	80288038	missense	probably benign	0.26
R4718:Myo6	UTSW	9	80246517	missense	probably benign	0.01
R4893:Myo6	UTSW	9	80228877	missense	probably damaging	1.00
R4936:Myo6	UTSW	9	80307681	missense	probably damaging	1.00
R4992:Myo6	UTSW	9	80283510	missense	possibly damaging	0.95
R5073:Myo6	UTSW	9	80288008	missense	probably benign	0.00
R5101:Myo6	UTSW	9	80270039	nonsense	probably null
R5137:Myo6	UTSW	9	80242249	missense	probably damaging	1.00
R5200:Myo6	UTSW	9	80276374	nonsense	probably null
R5510:Myo6	UTSW	9	80245660	missense	probably damaging	1.00
R5579:Myo6	UTSW	9	80217720	missense	probably damaging	0.99
R5693:Myo6	UTSW	9	80266180	missense	probably damaging	1.00
R5701:Myo6	UTSW	9	80258527	missense	probably damaging	1.00
R6693:Myo6	UTSW	9	80245731	missense	probably damaging	1.00
R7151:Myo6	UTSW	9	80245136	missense	unknown
R7399:Myo6	UTSW	9	80262291	missense	unknown
R7492:Myo6	UTSW	9	80288046	nonsense	probably null
R7651:Myo6	UTSW	9	80264266	critical splice donor site	probably null
R7698:Myo6	UTSW	9	80217656	missense	unknown
R7743:Myo6	UTSW	9	80276329	missense	unknown
R7888:Myo6	UTSW	9	80296665	missense	probably damaging	0.99
R8161:Myo6	UTSW	9	80217709	missense	unknown
R8245:Myo6	UTSW	9	80254947	missense	unknown
R8375:Myo6	UTSW	9	80254924	missense	unknown
R8387:Myo6	UTSW	9	80276350	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTTGTACGAGAATCAAAGGGC -3'
(R):5'- ATGAACAGAACCCACTTGCATG -3'

Sequencing Primer
(F):5'- TTGTACGAGAATCAAAGGGCTCTGTC -3'
(R):5'- CCACTTGCATGAAAGCATCCTTATG -3'

Posted On

2014-08-25