Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Myo3a'

519983

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

044640-MU

Accession Numbers

Genbank: NM_148413; MGI: 2183924

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22407332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 713 (G713S)

Ref Sequence

ENSEMBL: ENSMUSP00000120573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000153002]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044749
AA Change: G721S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: G721S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121055

Predicted Effect

probably damaging
Transcript: ENSMUST00000153002
AA Change: G713S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: G713S

Domain	Start	End	E-Value	Type
S_TKc	21	287	1.62e-91	SMART
MYSc	332	753	3.06e-35	SMART

Meta Mutation Damage Score

0.7727

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 91,055,766 (GRCm38)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,730,482 (GRCm38)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 122,890,180 (GRCm38)	V2290A	probably benign	Het
Aox4	A	G	1: 58,213,053 (GRCm38)	N29S	probably benign	Het
Arhgap17	T	C	7: 123,292,156 (GRCm38)	R592G	possibly damaging	Het
BC027072	T	A	17: 71,744,706 (GRCm38)	E1217V	probably damaging	Het
C87414	C	A	5: 93,637,532 (GRCm38)		probably null	Het
Caap1	A	T	4: 94,501,403 (GRCm38)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,169,134 (GRCm38)	M165L	possibly damaging	Het
Cep72	A	T	13: 74,058,463 (GRCm38)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,441,286 (GRCm38)	S731G	probably null	Het
Dsc2	T	C	18: 20,046,238 (GRCm38)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,274,630 (GRCm38)	N344K	probably benign	Het
Enah	A	G	1: 182,014,355 (GRCm38)		probably benign	Het
Fam26d	T	A	10: 34,041,634 (GRCm38)	R274*	probably null	Het
Fbn1	T	A	2: 125,383,671 (GRCm38)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,811,112 (GRCm38)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,123,120 (GRCm38)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,855,554 (GRCm38)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,392,818 (GRCm38)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,356,196 (GRCm38)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm38)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 122,880,239 (GRCm38)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,038,435 (GRCm38)	V1059D	possibly damaging	Het
Kif1bp	T	C	10: 62,575,034 (GRCm38)		probably null	Het
Kif26a	T	A	12: 112,175,492 (GRCm38)	S727T	probably damaging	Het
Klk1b27	A	G	7: 44,055,745 (GRCm38)	H112R	probably benign	Het
Krt72	T	G	15: 101,776,752 (GRCm38)		probably null	Het
Lactb	C	T	9: 66,970,890 (GRCm38)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,465,729 (GRCm38)	I612N	probably damaging	Het
Meaf6	A	C	4: 125,089,904 (GRCm38)	N51T	probably damaging	Het
Mtap	A	G	4: 89,148,261 (GRCm38)	T36A	possibly damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm38)	T596I	probably damaging	Het
Olfr1306	C	G	2: 111,912,883 (GRCm38)	G16R	possibly damaging	Het
Olfr1338	A	T	4: 118,754,027 (GRCm38)	C172*	probably null	Het
Pam	A	G	1: 97,838,027 (GRCm38)	V759A	possibly damaging	Het
Pds5a	T	A	5: 65,615,601 (GRCm38)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,747,877 (GRCm38)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,830,687 (GRCm38)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 25,016,538 (GRCm38)	V638I	possibly damaging	Het
Ptf1a	T	A	2: 19,447,037 (GRCm38)	D282E	probably damaging	Het
Ptgs2	A	T	1: 150,100,128 (GRCm38)		probably benign	Het
Racgap1	T	C	15: 99,624,275 (GRCm38)	R471G	probably damaging	Het
Rptn	T	C	3: 93,396,112 (GRCm38)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,744,507 (GRCm38)	M429V	probably benign	Het
Shprh	T	C	10: 11,186,893 (GRCm38)	L1248P	probably damaging	Het
Son	T	C	16: 91,659,947 (GRCm38)		probably benign	Het
Sppl3	T	C	5: 115,095,936 (GRCm38)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,955,382 (GRCm38)	R794W	probably damaging	Het
Telo2	T	C	17: 25,101,412 (GRCm38)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,574,531 (GRCm38)		probably null	Het
Tle4	T	C	19: 14,451,692 (GRCm38)	D722G	probably damaging	Het
Tprgl	A	G	4: 154,159,405 (GRCm38)	V98A	probably benign	Het
Trak1	C	T	9: 121,443,756 (GRCm38)	R237C	probably benign	Het
Vmn2r113	T	C	17: 22,958,741 (GRCm38)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,608,093 (GRCm38)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,976,597 (GRCm38)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,999,958 (GRCm38)		probably null	Het
Wee2	A	G	6: 40,452,619 (GRCm38)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,385,830 (GRCm38)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 11,158,765 (GRCm38)		probably null	Het
Zfp516	T	A	18: 82,955,710 (GRCm38)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,947,468 (GRCm38)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,896,105 (GRCm38)	R713Q	probably benign	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
IGL01655:Myo3a	APN	2	22,423,326 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAGATGGGAGTGGGTTCTAC -3'
(R):5'- CCTTGTCTTTGAATGGTAAGGC -3'

Sequencing Primer
(F):5'- TGGGTTCTACAGTAAGGAAAATGCTG -3'
(R):5'- TCTTTGAATGGTAAGGCATGAAG -3'

Posted On

2018-06-06