Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Myo6'

574040

Institutional Source

Beutler Lab

Gene Symbol

Myo6

Ensembl Gene

ENSMUSG00000033577

Gene Name

myosin VI

Synonyms

Tlc

MMRRC Submission

045481-MU

Accession Numbers

MGI:104785

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80165031-80311729 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80262291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 467 (S467G)

Ref Sequence

ENSEMBL: ENSMUSP00000139019 (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: S467G

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

SMART Domains

Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
AA Change: S467G

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: S467G

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

SMART Domains

Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
AA Change: S467G

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: S467G

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

SMART Domains

Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
AA Change: S467G

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: S467G

SMART Domains

Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
AA Change: S467G

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: S467G

SMART Domains

Protein: ENSMUSP00000139228
Gene: ENSMUSG00000033577
AA Change: S467G

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: S467G

SMART Domains

Protein: ENSMUSP00000139019
Gene: ENSMUSG00000033577
AA Change: S467G

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

0.2788

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	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
agnostic	UTSW	9	80283534	missense	possibly damaging	0.62
knownothing	UTSW	9	80303301	critical splice donor site	probably null
mayday_circler	UTSW	9	80246451	nonsense	probably null
torticollis	UTSW	9	80288217	critical splice donor site	probably null
toss	UTSW	9	80300667	critical splice donor site	probably null
truths	UTSW	9	80270039	nonsense	probably null
unbiased	UTSW	9	80273975	splice site	probably benign
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
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
R9006:Myo6	UTSW	9	80228858	missense	unknown
R9018:Myo6	UTSW	9	80251804	missense	unknown
R9038:Myo6	UTSW	9	80255003	missense	unknown
R9124:Myo6	UTSW	9	80288071	missense	unknown
R9190:Myo6	UTSW	9	80288102	missense	unknown
R9194:Myo6	UTSW	9	80246554	missense	unknown
R9281:Myo6	UTSW	9	80254882	nonsense	probably null
Z1191:Myo6	UTSW	9	80242227	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGATTGGACAAGGTATTTCTG -3'
(R):5'- TGCTGAACTTCGAGCACTTGC -3'

Sequencing Primer
(F):5'- CTGATACCTAATTTTAGTGCCTGAC -3'
(R):5'- ACCTGGCCACCTCATGTCAG -3'

Posted On

2019-09-13