Mutagenetix > Incidental Mutations

Incidental Mutation 'R7743:Myo6'

596672

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Tlc

MMRRC Submission

Accession Numbers

MGI:104785

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80165031-80311729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80276329 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 669 (I669F)

Ref Sequence

ENSEMBL: ENSMUSP00000139019 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035889
AA Change: I669F

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

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: I669F

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: I669F

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

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: I669F

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: I669F

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

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: I669F

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: I669F

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: I669F

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: I669F

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: I669F

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: I669F

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: I669F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,755	E1235G	probably damaging	Het
Adam6a	A	G	12: 113,544,532	D175G	probably benign	Het
Adgrf4	A	T	17: 42,672,562	C76*	probably null	Het
Agbl3	C	T	6: 34,846,830	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,784,763	V488A	not run	Het
Akip1	T	A	7: 109,711,828	S192T	probably benign	Het
Apc2	G	A	10: 80,304,915	M201I	probably damaging	Het
Arel1	G	T	12: 84,940,269	N124K	probably damaging	Het
Atp10a	A	T	7: 58,803,709	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,461,571	Y586H	probably benign	Het
BC051019	A	G	7: 109,716,059	Y330H	probably damaging	Het
Btbd11	A	T	10: 85,624,949	I569F	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Chek2	T	G	5: 110,840,050		probably null	Het
Cldn14	A	G	16: 93,919,727	L77S	probably damaging	Het
Cox15	T	C	19: 43,739,941	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,421,404	D369E	probably benign	Het
Cpxm1	T	C	2: 130,393,422	N550S	probably benign	Het
Csdc2	A	G	15: 81,949,198	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,778,876	C219S	probably damaging	Het
Erbb4	T	C	1: 68,328,119	T480A	probably benign	Het
Fndc1	G	A	17: 7,765,137	T1319I	unknown	Het
Gm5773	T	G	3: 93,773,258	V79G	probably damaging	Het
Hsf2	G	A	10: 57,511,335		probably null	Het
Itgb2l	T	C	16: 96,437,408	T64A	probably damaging	Het
Kifc5b	T	C	17: 26,924,202	V316A	probably damaging	Het
Ktn1	A	G	14: 47,670,293	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,249,052	E143G	possibly damaging	Het
Mroh9	C	T	1: 163,024,553	E856K	probably benign	Het
Muc16	T	C	9: 18,657,477	T1249A	unknown	Het
Myh6	G	A	14: 54,957,150	R721W	probably damaging	Het
N4bp2	A	G	5: 65,808,459	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,638	M1T	probably null	Het
Obscn	C	T	11: 59,099,777	V1657M	probably damaging	Het
Olfr243	A	G	7: 103,717,353	E253G	possibly damaging	Het
Olfr551	A	T	7: 102,588,431	F104Y	probably benign	Het
Olfr908	A	G	9: 38,516,328	T99A	possibly damaging	Het
Otud6b	C	A	4: 14,818,389	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 34,192,831	D204E	probably benign	Het
Pdia2	T	C	17: 26,198,868	S56G	probably benign	Het
Plcxd1	G	A	5: 110,102,503	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,555,986	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,536,594	F937L	possibly damaging	Het
Pth2	A	T	7: 45,181,309	M6L	probably benign	Het
Ptprd	T	A	4: 76,086,089	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,601,601	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,603,949	D300E	probably benign	Het
Rock2	G	A	12: 16,976,047	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,579,932		probably benign	Het
Rtn4	T	A	11: 29,733,790	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,130	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,135,885	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,079,358	V207I	probably damaging	Het
Sipa1l2	T	C	8: 125,464,233	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,683,836	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,316,185	F106I	probably damaging	Het
Snx14	A	T	9: 88,398,349	S518T	probably benign	Het
Sp2	T	C	11: 96,961,109	T330A	probably damaging	Het
Spata13	A	T	14: 60,756,249	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,656,416	V23G	possibly damaging	Het
Syt3	A	T	7: 44,392,667	I317F	probably damaging	Het
Tars	A	C	15: 11,399,372		probably null	Het
Tead3	T	A	17: 28,332,827	T431S	probably benign	Het
Tiam2	G	A	17: 3,518,156	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,521,892	P12L	probably benign	Het
Topaz1	A	G	9: 122,785,136	H1207R	probably benign	Het
Trdn	G	T	10: 33,257,062	E107*	probably null	Het
Trp63	A	G	16: 25,882,625	N483S	probably benign	Het
Trpm4	A	G	7: 45,308,338	S1009P	probably benign	Het
Trpm6	T	C	19: 18,827,408	V908A	probably benign	Het
Tsen34	A	T	7: 3,694,602	M25L	possibly damaging	Het
Ttn	T	C	2: 76,951,483	E1073G	unknown	Het
Uaca	A	T	9: 60,876,395	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,944,449	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,166,395	M115K	probably benign	Het
Unc45b	A	T	11: 82,922,900	I378F	probably damaging	Het
Unk	G	A	11: 116,049,436	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,810,179	L3314Q	probably benign	Het
Vezt	A	G	10: 93,980,424	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,345,798	Q220*	probably null	Het
Yap1	T	C	9: 7,962,378	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,086,728	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,152,935	C374G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTTAGACATGCAGAGTGC -3'
(R):5'- CCCTGTGCTTTATTCAACACTAAGG -3'

Sequencing Primer
(F):5'- GACATGCAGAGTGCTTTGTTTAAATG -3'
(R):5'- GTGCTTTATTCAACACTAAGGGAAAC -3'

Posted On

2019-11-26