Mutagenetix > Incidental Mutations

Incidental Mutation 'R1789:Myo6'

201634

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Tlc

MMRRC Submission

039820-MU

Accession Numbers

MGI:104785

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80165031-80311729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80300572 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1115 (H1115Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139019 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000035889
AA Change: H1083Q

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: H1083Q

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

unknown
Transcript: ENSMUST00000076140
AA Change: H1096Q

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: H1096Q

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

unknown
Transcript: ENSMUST00000113266
AA Change: H1083Q

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: H1083Q

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

probably damaging
Transcript: ENSMUST00000113268
AA Change: H1105Q

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

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: H1105Q

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

probably damaging
Transcript: ENSMUST00000127779
AA Change: H1106Q

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

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: H1106Q

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

probably damaging
Transcript: ENSMUST00000184480
AA Change: H1115Q

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

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: H1115Q

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	probably benign	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
R1962:Myo6	UTSW	9	80260835	missense	probably damaging	1.00
R1978:Myo6	UTSW	9	80228925	missense	probably damaging	0.99
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
R8467:Myo6	UTSW	9	80228886	missense	probably damaging	1.00
R8669:Myo6	UTSW	9	80266249	missense	unknown
R8770:Myo6	UTSW	9	80264199	missense	unknown
R8807:Myo6	UTSW	9	80300667	critical splice donor site	probably null
Z1191:Myo6	UTSW	9	80242227	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGAAGCGCTCATCTTACC -3'
(R):5'- TCAATATAGGCCAGCCATCCTC -3'

Sequencing Primer
(F):5'- ATGAAGCGCTCATCTTACCTTACTTC -3'
(R):5'- TAGGCCAGCCATCCTCATATAATGTG -3'

Posted On

2014-06-23