Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01655:Myo3a'

102975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01655

Quality Score

Status

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22423326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 798 (D798V)

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044749]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044749
AA Change: D798V

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

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: D798V

Domain	Start	End	E-Value	Type
S_TKc	29	295	1.62e-91	SMART
MYSc	340	1061	2.07e-252	SMART
IQ	1061	1083	2.88e1	SMART
IQ	1088	1110	9.48e-3	SMART
low complexity region	1153	1169	N/A	INTRINSIC
low complexity region	1359	1369	N/A	INTRINSIC
low complexity region	1496	1505	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	G	A	3: 97,165,972 (GRCm38)		probably null	Het
Aida	T	A	1: 183,313,683 (GRCm38)	Y104*	probably null	Het
Cd300lg	T	C	11: 102,047,075 (GRCm38)	S244P	probably benign	Het
Ces4a	T	A	8: 105,147,174 (GRCm38)	L425Q	probably damaging	Het
Chrnb3	T	C	8: 27,394,174 (GRCm38)	V298A	probably damaging	Het
Cnot6	A	C	11: 49,677,304 (GRCm38)	F486C	probably damaging	Het
Ctnna3	A	G	10: 64,873,170 (GRCm38)	T663A	probably benign	Het
Cyp2j12	T	A	4: 96,115,577 (GRCm38)	K267N	possibly damaging	Het
Dclre1a	A	T	19: 56,547,057 (GRCm38)	Y32N	probably damaging	Het
Ddx21	A	G	10: 62,587,491 (GRCm38)	I644T	probably damaging	Het
Epha6	A	C	16: 59,839,303 (GRCm38)	N817K	probably benign	Het
Ercc6l2	T	A	13: 63,819,752 (GRCm38)	Y55*	probably null	Het
Esyt1	A	G	10: 128,522,312 (GRCm38)	I183T	possibly damaging	Het
Exoc8	T	C	8: 124,896,228 (GRCm38)	T467A	probably benign	Het
Fance	T	C	17: 28,322,779 (GRCm38)		probably benign	Het
Fbxo46	C	T	7: 19,136,310 (GRCm38)	R285W	probably damaging	Het
Ffar2	A	T	7: 30,819,587 (GRCm38)	V176E	probably damaging	Het
Fnbp1l	T	C	3: 122,568,749 (GRCm38)		probably null	Het
Gm10288	T	C	3: 146,838,810 (GRCm38)		noncoding transcript	Het
Gm12588	T	A	11: 121,907,951 (GRCm38)			Het
Gm9755	G	A	8: 67,515,233 (GRCm38)		noncoding transcript	Het
Gpr33	A	T	12: 52,023,560 (GRCm38)	M232K	probably damaging	Het
Haus5	A	T	7: 30,663,294 (GRCm38)		probably benign	Het
Ilvbl	A	G	10: 78,577,333 (GRCm38)		probably benign	Het
Kifap3	G	A	1: 163,796,049 (GRCm38)		probably benign	Het
Klhl26	T	C	8: 70,451,883 (GRCm38)	Y378C	probably damaging	Het
Lama4	G	A	10: 39,060,213 (GRCm38)	S628N	probably benign	Het
Lamc3	G	A	2: 31,898,278 (GRCm38)	R150H	probably damaging	Het
Mrgprx2	A	T	7: 48,482,691 (GRCm38)	C126*	probably null	Het
Ndufs1	A	T	1: 63,151,557 (GRCm38)	L44Q	probably damaging	Het
Nfrkb	G	T	9: 31,403,459 (GRCm38)	R525L	probably benign	Het
Olfr1124	T	A	2: 87,434,885 (GRCm38)	C133S	probably damaging	Het
Olfr1134	A	G	2: 87,656,429 (GRCm38)	F164S	probably damaging	Het
Olfr1287	T	C	2: 111,449,889 (GRCm38)	F250L	probably benign	Het
Olfr1370	T	C	13: 21,072,905 (GRCm38)	Y132C	probably damaging	Het
Olfr146	T	A	9: 39,018,918 (GRCm38)	I208F	probably benign	Het
Olfr394	T	C	11: 73,887,927 (GRCm38)	I148M	probably benign	Het
Olfr458	T	C	6: 42,460,540 (GRCm38)	T160A	probably benign	Het
Olfr735	A	G	14: 50,346,184 (GRCm38)	M86T	probably benign	Het
Olfr824	G	T	10: 130,126,991 (GRCm38)	T22K	probably benign	Het
Pias4	T	C	10: 81,155,658 (GRCm38)	K352E	probably benign	Het
Pkhd1	G	A	1: 20,534,633 (GRCm38)	Q1153*	probably null	Het
Pon1	C	A	6: 5,175,760 (GRCm38)	W254C	probably damaging	Het
Prr14	A	G	7: 127,475,767 (GRCm38)	T447A	probably benign	Het
Serpinb9g	T	A	13: 33,495,105 (GRCm38)	C319*	probably null	Het
Slc9c1	A	T	16: 45,582,972 (GRCm38)	M801L	probably benign	Het
Tenm4	C	T	7: 96,553,724 (GRCm38)	T182M	probably damaging	Het
Ubr4	T	A	4: 139,407,796 (GRCm38)	L813Q	probably damaging	Het
Uimc1	T	C	13: 55,028,704 (GRCm38)	E667G	probably benign	Het
Unc79	A	G	12: 103,168,287 (GRCm38)	T2173A	probably benign	Het
Unkl	T	C	17: 25,210,848 (GRCm38)	S142P	probably benign	Het
Vezt	A	G	10: 93,996,997 (GRCm38)	V204A	probably benign	Het
Vps53	A	T	11: 76,063,034 (GRCm38)	I402N	probably damaging	Het
Zfyve9	T	C	4: 108,642,092 (GRCm38)	D1343G	probably damaging	Het

Other mutations in Myo3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Myo3a	APN	2	22,332,473 (GRCm38)	missense	probably benign	0.42
IGL01307:Myo3a	APN	2	22,558,289 (GRCm38)	missense	probably damaging	1.00
IGL01413:Myo3a	APN	2	22,297,600 (GRCm38)	missense	probably benign	0.25
IGL01767:Myo3a	APN	2	22,423,222 (GRCm38)	missense	probably damaging	0.96
IGL01803:Myo3a	APN	2	22,241,115 (GRCm38)	missense	probably damaging	1.00
IGL01969:Myo3a	APN	2	22,297,688 (GRCm38)	missense	probably benign	0.03
IGL02043:Myo3a	APN	2	22,399,965 (GRCm38)	missense	probably benign	0.01
IGL02124:Myo3a	APN	2	22,577,526 (GRCm38)	missense	probably benign	0.01
IGL02174:Myo3a	APN	2	22,332,393 (GRCm38)	missense	probably benign	0.04
IGL02649:Myo3a	APN	2	22,323,607 (GRCm38)	missense	probably benign
IGL02976:Myo3a	APN	2	22,542,452 (GRCm38)	nonsense	probably null
IGL03328:Myo3a	APN	2	22,578,198 (GRCm38)	missense	probably benign	0.02
IGL03376:Myo3a	APN	2	22,600,074 (GRCm38)	splice site	probably benign
lose	UTSW	2	22,558,320 (GRCm38)	nonsense	probably null
snooze	UTSW	2	22,282,634 (GRCm38)	missense	probably damaging	0.99
A5278:Myo3a	UTSW	2	22,323,653 (GRCm38)	missense	probably benign	0.27
PIT4445001:Myo3a	UTSW	2	22,542,415 (GRCm38)	missense	possibly damaging	0.64
R0008:Myo3a	UTSW	2	22,579,741 (GRCm38)	missense	probably damaging	0.99
R0099:Myo3a	UTSW	2	22,245,598 (GRCm38)	missense	probably benign	0.03
R0103:Myo3a	UTSW	2	22,544,322 (GRCm38)	splice site	probably benign
R0103:Myo3a	UTSW	2	22,544,322 (GRCm38)	splice site	probably benign
R0212:Myo3a	UTSW	2	22,291,848 (GRCm38)	missense	probably damaging	1.00
R0281:Myo3a	UTSW	2	22,245,598 (GRCm38)	missense	probably benign	0.03
R0282:Myo3a	UTSW	2	22,245,598 (GRCm38)	missense	probably benign	0.03
R0492:Myo3a	UTSW	2	22,323,636 (GRCm38)	missense	possibly damaging	0.46
R0498:Myo3a	UTSW	2	22,577,429 (GRCm38)	missense	possibly damaging	0.74
R0594:Myo3a	UTSW	2	22,544,332 (GRCm38)	splice site	probably benign
R0609:Myo3a	UTSW	2	22,396,299 (GRCm38)	missense	possibly damaging	0.95
R0609:Myo3a	UTSW	2	22,333,513 (GRCm38)	missense	probably benign	0.29
R0827:Myo3a	UTSW	2	22,558,215 (GRCm38)	missense	probably damaging	1.00
R0968:Myo3a	UTSW	2	22,558,289 (GRCm38)	missense	probably damaging	1.00
R1157:Myo3a	UTSW	2	22,542,414 (GRCm38)	critical splice acceptor site	probably null
R1301:Myo3a	UTSW	2	22,267,095 (GRCm38)	splice site	probably benign
R1352:Myo3a	UTSW	2	22,323,675 (GRCm38)	critical splice donor site	probably null
R1443:Myo3a	UTSW	2	22,282,626 (GRCm38)	missense	probably damaging	0.99
R1465:Myo3a	UTSW	2	22,577,927 (GRCm38)	missense	probably benign	0.00
R1465:Myo3a	UTSW	2	22,577,927 (GRCm38)	missense	probably benign	0.00
R1517:Myo3a	UTSW	2	22,282,634 (GRCm38)	missense	probably damaging	0.99
R1565:Myo3a	UTSW	2	22,340,280 (GRCm38)	missense	probably damaging	1.00
R1712:Myo3a	UTSW	2	22,564,992 (GRCm38)	missense	probably damaging	1.00
R1722:Myo3a	UTSW	2	22,399,827 (GRCm38)	missense	probably benign	0.03
R1822:Myo3a	UTSW	2	22,340,280 (GRCm38)	missense	probably damaging	1.00
R1823:Myo3a	UTSW	2	22,340,280 (GRCm38)	missense	probably damaging	1.00
R1824:Myo3a	UTSW	2	22,396,243 (GRCm38)	missense	probably benign
R1837:Myo3a	UTSW	2	22,577,592 (GRCm38)	missense	possibly damaging	0.76
R1867:Myo3a	UTSW	2	22,399,846 (GRCm38)	missense	probably benign	0.00
R1917:Myo3a	UTSW	2	22,291,922 (GRCm38)	missense	probably damaging	1.00
R1920:Myo3a	UTSW	2	22,564,996 (GRCm38)	missense	probably benign	0.02
R1937:Myo3a	UTSW	2	22,396,315 (GRCm38)	missense	probably damaging	1.00
R1954:Myo3a	UTSW	2	22,241,226 (GRCm38)	missense	probably damaging	1.00
R1988:Myo3a	UTSW	2	22,578,128 (GRCm38)	missense	possibly damaging	0.86
R2091:Myo3a	UTSW	2	22,333,677 (GRCm38)	missense	probably damaging	0.99
R2115:Myo3a	UTSW	2	22,245,531 (GRCm38)	missense	probably damaging	1.00
R2125:Myo3a	UTSW	2	22,578,174 (GRCm38)	missense	probably benign	0.42
R2126:Myo3a	UTSW	2	22,578,174 (GRCm38)	missense	probably benign	0.42
R2216:Myo3a	UTSW	2	22,577,771 (GRCm38)	missense	probably benign	0.00
R2413:Myo3a	UTSW	2	22,577,912 (GRCm38)	missense	probably benign	0.00
R2964:Myo3a	UTSW	2	22,340,256 (GRCm38)	missense	possibly damaging	0.90
R3196:Myo3a	UTSW	2	22,399,868 (GRCm38)	missense	possibly damaging	0.86
R3837:Myo3a	UTSW	2	22,565,109 (GRCm38)	splice site	probably benign
R3905:Myo3a	UTSW	2	22,558,215 (GRCm38)	missense	probably damaging	1.00
R3926:Myo3a	UTSW	2	22,565,041 (GRCm38)	missense	probably damaging	0.99
R4014:Myo3a	UTSW	2	22,578,170 (GRCm38)	missense	possibly damaging	0.76
R4015:Myo3a	UTSW	2	22,578,170 (GRCm38)	missense	possibly damaging	0.76
R4017:Myo3a	UTSW	2	22,578,170 (GRCm38)	missense	possibly damaging	0.76
R4043:Myo3a	UTSW	2	22,333,539 (GRCm38)	splice site	probably benign
R4044:Myo3a	UTSW	2	22,577,700 (GRCm38)	missense	probably damaging	0.99
R4057:Myo3a	UTSW	2	22,266,160 (GRCm38)	missense	probably benign	0.01
R4192:Myo3a	UTSW	2	22,407,377 (GRCm38)	missense	probably damaging	1.00
R4282:Myo3a	UTSW	2	22,340,278 (GRCm38)	missense	probably benign	0.14
R4321:Myo3a	UTSW	2	22,267,155 (GRCm38)	missense	probably damaging	1.00
R4393:Myo3a	UTSW	2	22,577,854 (GRCm38)	missense	probably damaging	0.99
R4398:Myo3a	UTSW	2	22,577,842 (GRCm38)	missense	probably benign
R4446:Myo3a	UTSW	2	22,600,137 (GRCm38)	missense	probably damaging	1.00
R4685:Myo3a	UTSW	2	22,407,422 (GRCm38)	missense	probably damaging	1.00
R5032:Myo3a	UTSW	2	22,282,602 (GRCm38)	missense	probably damaging	1.00
R5096:Myo3a	UTSW	2	22,574,242 (GRCm38)	missense	probably benign	0.16
R5183:Myo3a	UTSW	2	22,578,158 (GRCm38)	missense	probably benign	0.05
R5458:Myo3a	UTSW	2	22,245,550 (GRCm38)	missense	probably damaging	1.00
R5502:Myo3a	UTSW	2	22,558,369 (GRCm38)	missense	probably damaging	1.00
R5522:Myo3a	UTSW	2	22,574,341 (GRCm38)	missense	probably damaging	1.00
R6462:Myo3a	UTSW	2	22,558,411 (GRCm38)	missense	probably damaging	1.00
R6479:Myo3a	UTSW	2	22,577,865 (GRCm38)	missense	probably benign	0.00
R6513:Myo3a	UTSW	2	22,407,332 (GRCm38)	missense	probably damaging	1.00
R6520:Myo3a	UTSW	2	22,399,926 (GRCm38)	missense	possibly damaging	0.90
R6602:Myo3a	UTSW	2	22,577,787 (GRCm38)	missense	probably damaging	0.96
R6671:Myo3a	UTSW	2	22,294,522 (GRCm38)	missense	probably damaging	1.00
R6743:Myo3a	UTSW	2	22,361,664 (GRCm38)	missense	probably benign	0.24
R6865:Myo3a	UTSW	2	22,574,301 (GRCm38)	missense	probably benign	0.00
R6961:Myo3a	UTSW	2	22,245,558 (GRCm38)	missense	probably benign	0.00
R7001:Myo3a	UTSW	2	22,332,377 (GRCm38)	missense	probably benign	0.04
R7215:Myo3a	UTSW	2	22,245,567 (GRCm38)	missense	possibly damaging	0.78
R7301:Myo3a	UTSW	2	22,544,466 (GRCm38)	critical splice donor site	probably null
R7318:Myo3a	UTSW	2	22,558,320 (GRCm38)	nonsense	probably null
R7447:Myo3a	UTSW	2	22,544,426 (GRCm38)	missense	probably benign	0.27
R7456:Myo3a	UTSW	2	22,407,444 (GRCm38)	missense	probably benign	0.08
R7528:Myo3a	UTSW	2	22,266,114 (GRCm38)	nonsense	probably null
R7731:Myo3a	UTSW	2	22,282,589 (GRCm38)	missense	probably damaging	1.00
R7768:Myo3a	UTSW	2	22,241,143 (GRCm38)	missense	probably damaging	0.99
R8054:Myo3a	UTSW	2	22,574,317 (GRCm38)	missense	probably benign	0.00
R8140:Myo3a	UTSW	2	22,407,346 (GRCm38)	missense	probably damaging	1.00
R8143:Myo3a	UTSW	2	22,282,665 (GRCm38)	critical splice donor site	probably null
R8346:Myo3a	UTSW	2	22,558,422 (GRCm38)	critical splice donor site	probably null
R8421:Myo3a	UTSW	2	22,362,124 (GRCm38)	missense	probably benign	0.07
R8495:Myo3a	UTSW	2	22,396,273 (GRCm38)	missense	probably damaging	0.96
R8551:Myo3a	UTSW	2	22,332,466 (GRCm38)	missense	probably benign	0.00
R8708:Myo3a	UTSW	2	22,291,796 (GRCm38)	splice site	probably benign
R8757:Myo3a	UTSW	2	22,558,307 (GRCm38)	missense	possibly damaging	0.49
R8759:Myo3a	UTSW	2	22,558,307 (GRCm38)	missense	possibly damaging	0.49
R8779:Myo3a	UTSW	2	22,245,593 (GRCm38)	nonsense	probably null
R8828:Myo3a	UTSW	2	22,241,053 (GRCm38)	missense	probably benign	0.01
R8910:Myo3a	UTSW	2	22,574,268 (GRCm38)	missense	probably benign	0.01
R8916:Myo3a	UTSW	2	22,567,692 (GRCm38)	missense	probably damaging	1.00
R8926:Myo3a	UTSW	2	22,396,263 (GRCm38)	missense	possibly damaging	0.95
R9028:Myo3a	UTSW	2	22,600,087 (GRCm38)	missense	possibly damaging	0.79
R9046:Myo3a	UTSW	2	22,558,355 (GRCm38)	missense	probably damaging	0.99
R9120:Myo3a	UTSW	2	22,544,426 (GRCm38)	missense	probably benign	0.27
R9153:Myo3a	UTSW	2	22,399,933 (GRCm38)	missense	probably benign	0.02
R9191:Myo3a	UTSW	2	22,579,829 (GRCm38)	missense	probably benign	0.24
R9258:Myo3a	UTSW	2	22,577,533 (GRCm38)	missense	possibly damaging	0.60
R9436:Myo3a	UTSW	2	22,407,424 (GRCm38)	nonsense	probably null
R9464:Myo3a	UTSW	2	22,227,572 (GRCm38)	start gained	probably benign
R9487:Myo3a	UTSW	2	22,241,051 (GRCm38)	missense	probably benign
R9719:Myo3a	UTSW	2	22,544,455 (GRCm38)	missense	probably benign	0.02
R9799:Myo3a	UTSW	2	22,600,169 (GRCm38)	missense	probably damaging	1.00
Z1177:Myo3a	UTSW	2	22,618,140 (GRCm38)	missense	possibly damaging	0.58

Posted On

2014-01-21