Mutagenetix > Incidental Mutation

Incidental Mutation 'R9464:Myo3a'

715041

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9464 (G1)

Quality Score

185.009

Status

Not validated

Chromosome

Chromosomal Location

22232314-22508264 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 22232383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044749

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,865 (GRCm39)	F45S	possibly damaging	Het
Abca4	A	G	3: 121,913,714 (GRCm39)	T897A	probably benign	Het
Abhd5	A	T	9: 122,208,029 (GRCm39)	T308S	probably benign	Het
Abi2	G	A	1: 60,478,100 (GRCm39)		probably null	Het
Abi3bp	C	A	16: 56,409,046 (GRCm39)	T283N	possibly damaging	Het
Adcy2	A	C	13: 68,882,776 (GRCm39)	N320K	probably damaging	Het
Adcy3	T	A	12: 4,256,939 (GRCm39)	M819K	probably benign	Het
Anapc5	A	G	5: 122,940,209 (GRCm39)	V354A	probably benign	Het
Card14	A	G	11: 119,208,031 (GRCm39)	I34V	probably benign	Het
Ccdc153	A	T	9: 44,157,011 (GRCm39)	T118S	possibly damaging	Het
Champ1	G	A	8: 13,929,114 (GRCm39)	G424D	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Ctsr	T	A	13: 61,307,295 (GRCm39)	I334F	possibly damaging	Het
Dlgap1	A	T	17: 70,823,964 (GRCm39)	Q316H	probably benign	Het
Dnajc18	A	C	18: 35,830,166 (GRCm39)	C80G	probably damaging	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fancc	T	C	13: 63,550,769 (GRCm39)	K18E	possibly damaging	Het
Fbxo46	G	C	7: 18,870,791 (GRCm39)	R470P	probably damaging	Het
Fbxw20	A	C	9: 109,050,399 (GRCm39)	W409G	probably damaging	Het
Gcnt4	C	T	13: 97,083,493 (GRCm39)	T263M	probably benign	Het
Gfy	T	C	7: 44,827,251 (GRCm39)	T282A	probably benign	Het
Glb1l3	A	G	9: 26,761,351 (GRCm39)	M227T	probably damaging	Het
Gm8267	T	C	14: 44,960,346 (GRCm39)	E133G	probably damaging	Het
Hmcn1	A	C	1: 150,599,248 (GRCm39)	I1556R	possibly damaging	Het
Ifnl3	T	C	7: 28,223,287 (GRCm39)	V102A	probably damaging	Het
Kifc3	C	T	8: 95,830,622 (GRCm39)	R548Q	possibly damaging	Het
Lonrf1	T	A	8: 36,690,024 (GRCm39)	Q678L	probably benign	Het
Map2	A	G	1: 66,454,497 (GRCm39)	E1129G	probably damaging	Het
Mug2	C	A	6: 122,028,690 (GRCm39)	D561E	probably benign	Het
N4bp1	A	G	8: 87,587,165 (GRCm39)	V591A	probably damaging	Het
Nckap5	C	T	1: 125,952,494 (GRCm39)	G1353R	probably benign	Het
Nek10	T	A	14: 14,937,766 (GRCm38)	H828Q	probably benign	Het
Or52n3	T	A	7: 104,530,050 (GRCm39)	C45*	probably null	Het
Or5k1b	G	T	16: 58,581,202 (GRCm39)	C112*	probably null	Het
Pclo	T	C	5: 14,816,830 (GRCm39)	S1297P		Het
Pkhd1l1	T	C	15: 44,343,009 (GRCm39)	I162T	probably damaging	Het
Plaat5	A	G	19: 7,591,923 (GRCm39)	E113G	probably damaging	Het
Plekhg2	T	C	7: 28,062,297 (GRCm39)	E541G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,149 (GRCm39)	N220D	possibly damaging	Het
Prss3l	A	G	6: 41,420,486 (GRCm39)	V80A	probably benign	Het
Psmd4	A	G	3: 94,940,735 (GRCm39)	S343P	probably benign	Het
Rnf213	A	T	11: 119,354,406 (GRCm39)	H4063L		Het
Rnf40	T	C	7: 127,190,954 (GRCm39)	V313A	probably benign	Het
Ryr2	T	A	13: 11,752,680 (GRCm39)	E1880D	probably benign	Het
Slc30a4	A	T	2: 122,527,200 (GRCm39)	L398I	probably damaging	Het
Sp100	A	T	1: 85,624,751 (GRCm39)	N380I	probably damaging	Het
Speer4d	T	G	5: 15,828,393 (GRCm39)	L175W	probably damaging	Het
Srcap	T	A	7: 127,137,273 (GRCm39)	I985K	possibly damaging	Het
Tesk2	T	C	4: 116,658,443 (GRCm39)		probably null	Het
Tgfbrap1	A	G	1: 43,114,608 (GRCm39)	V164A	probably damaging	Het
Tlk1	T	C	2: 70,544,341 (GRCm39)	T765A	probably benign	Het
Tmem207	A	T	16: 26,345,413 (GRCm39)	C18S		Het
Tph2	A	T	10: 114,915,992 (GRCm39)	C394S	probably benign	Het
Trrap	C	A	5: 144,763,517 (GRCm39)	H2470N	probably damaging	Het
Ttc21b	T	C	2: 66,053,866 (GRCm39)	Y771C	probably damaging	Het
Uchl3	T	C	14: 101,904,451 (GRCm39)	F122L	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r117	G	T	17: 23,696,578 (GRCm39)	D276E	probably benign	Het
Vps13c	T	C	9: 67,858,674 (GRCm39)	L2708P	probably damaging	Het
Vwa3a	T	A	7: 120,385,682 (GRCm39)	S675T	possibly damaging	Het
Zfp473	A	G	7: 44,383,766 (GRCm39)	L189P	probably benign	Het
Zfp956	T	A	6: 47,941,041 (GRCm39)	C467S	probably damaging	Het
Zgrf1	T	A	3: 127,377,741 (GRCm39)	N995K	probably benign	Het

Other mutations in Myo3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Myo3a	APN	2	22,337,284 (GRCm39)	missense	probably benign	0.42
IGL01307:Myo3a	APN	2	22,448,301 (GRCm39)	missense	probably damaging	1.00
IGL01413:Myo3a	APN	2	22,302,411 (GRCm39)	missense	probably benign	0.25
IGL01655:Myo3a	APN	2	22,428,137 (GRCm39)	missense	probably damaging	1.00
IGL01767:Myo3a	APN	2	22,428,033 (GRCm39)	missense	probably damaging	0.96
IGL01803:Myo3a	APN	2	22,245,926 (GRCm39)	missense	probably damaging	1.00
IGL01969:Myo3a	APN	2	22,302,499 (GRCm39)	missense	probably benign	0.03
IGL02043:Myo3a	APN	2	22,404,776 (GRCm39)	missense	probably benign	0.01
IGL02124:Myo3a	APN	2	22,467,538 (GRCm39)	missense	probably benign	0.01
IGL02174:Myo3a	APN	2	22,337,204 (GRCm39)	missense	probably benign	0.04
IGL02649:Myo3a	APN	2	22,328,418 (GRCm39)	missense	probably benign
IGL02976:Myo3a	APN	2	22,434,494 (GRCm39)	nonsense	probably null
IGL03328:Myo3a	APN	2	22,468,210 (GRCm39)	missense	probably benign	0.02
IGL03376:Myo3a	APN	2	22,490,086 (GRCm39)	splice site	probably benign
lose	UTSW	2	22,448,332 (GRCm39)	nonsense	probably null
snooze	UTSW	2	22,287,445 (GRCm39)	missense	probably damaging	0.99
A5278:Myo3a	UTSW	2	22,328,464 (GRCm39)	missense	probably benign	0.27
PIT4445001:Myo3a	UTSW	2	22,434,457 (GRCm39)	missense	possibly damaging	0.64
R0008:Myo3a	UTSW	2	22,469,753 (GRCm39)	missense	probably damaging	0.99
R0099:Myo3a	UTSW	2	22,250,409 (GRCm39)	missense	probably benign	0.03
R0103:Myo3a	UTSW	2	22,436,360 (GRCm39)	splice site	probably benign
R0103:Myo3a	UTSW	2	22,436,360 (GRCm39)	splice site	probably benign
R0212:Myo3a	UTSW	2	22,296,659 (GRCm39)	missense	probably damaging	1.00
R0281:Myo3a	UTSW	2	22,250,409 (GRCm39)	missense	probably benign	0.03
R0282:Myo3a	UTSW	2	22,250,409 (GRCm39)	missense	probably benign	0.03
R0492:Myo3a	UTSW	2	22,328,447 (GRCm39)	missense	possibly damaging	0.46
R0498:Myo3a	UTSW	2	22,467,441 (GRCm39)	missense	possibly damaging	0.74
R0594:Myo3a	UTSW	2	22,436,370 (GRCm39)	splice site	probably benign
R0609:Myo3a	UTSW	2	22,401,110 (GRCm39)	missense	possibly damaging	0.95
R0609:Myo3a	UTSW	2	22,338,324 (GRCm39)	missense	probably benign	0.29
R0827:Myo3a	UTSW	2	22,448,227 (GRCm39)	missense	probably damaging	1.00
R0968:Myo3a	UTSW	2	22,448,301 (GRCm39)	missense	probably damaging	1.00
R1157:Myo3a	UTSW	2	22,434,456 (GRCm39)	critical splice acceptor site	probably null
R1301:Myo3a	UTSW	2	22,271,906 (GRCm39)	splice site	probably benign
R1352:Myo3a	UTSW	2	22,328,486 (GRCm39)	critical splice donor site	probably null
R1443:Myo3a	UTSW	2	22,287,437 (GRCm39)	missense	probably damaging	0.99
R1465:Myo3a	UTSW	2	22,467,939 (GRCm39)	missense	probably benign	0.00
R1465:Myo3a	UTSW	2	22,467,939 (GRCm39)	missense	probably benign	0.00
R1517:Myo3a	UTSW	2	22,287,445 (GRCm39)	missense	probably damaging	0.99
R1565:Myo3a	UTSW	2	22,345,091 (GRCm39)	missense	probably damaging	1.00
R1712:Myo3a	UTSW	2	22,455,004 (GRCm39)	missense	probably damaging	1.00
R1722:Myo3a	UTSW	2	22,404,638 (GRCm39)	missense	probably benign	0.03
R1822:Myo3a	UTSW	2	22,345,091 (GRCm39)	missense	probably damaging	1.00
R1823:Myo3a	UTSW	2	22,345,091 (GRCm39)	missense	probably damaging	1.00
R1824:Myo3a	UTSW	2	22,401,054 (GRCm39)	missense	probably benign
R1837:Myo3a	UTSW	2	22,467,604 (GRCm39)	missense	possibly damaging	0.76
R1867:Myo3a	UTSW	2	22,404,657 (GRCm39)	missense	probably benign	0.00
R1917:Myo3a	UTSW	2	22,296,733 (GRCm39)	missense	probably damaging	1.00
R1920:Myo3a	UTSW	2	22,455,008 (GRCm39)	missense	probably benign	0.02
R1937:Myo3a	UTSW	2	22,401,126 (GRCm39)	missense	probably damaging	1.00
R1954:Myo3a	UTSW	2	22,246,037 (GRCm39)	missense	probably damaging	1.00
R1988:Myo3a	UTSW	2	22,468,140 (GRCm39)	missense	possibly damaging	0.86
R2091:Myo3a	UTSW	2	22,338,488 (GRCm39)	missense	probably damaging	0.99
R2115:Myo3a	UTSW	2	22,250,342 (GRCm39)	missense	probably damaging	1.00
R2125:Myo3a	UTSW	2	22,468,186 (GRCm39)	missense	probably benign	0.42
R2126:Myo3a	UTSW	2	22,468,186 (GRCm39)	missense	probably benign	0.42
R2216:Myo3a	UTSW	2	22,467,783 (GRCm39)	missense	probably benign	0.00
R2413:Myo3a	UTSW	2	22,467,924 (GRCm39)	missense	probably benign	0.00
R2964:Myo3a	UTSW	2	22,345,067 (GRCm39)	missense	possibly damaging	0.90
R3196:Myo3a	UTSW	2	22,404,679 (GRCm39)	missense	possibly damaging	0.86
R3837:Myo3a	UTSW	2	22,455,121 (GRCm39)	splice site	probably benign
R3905:Myo3a	UTSW	2	22,448,227 (GRCm39)	missense	probably damaging	1.00
R3926:Myo3a	UTSW	2	22,455,053 (GRCm39)	missense	probably damaging	0.99
R4014:Myo3a	UTSW	2	22,468,182 (GRCm39)	missense	possibly damaging	0.76
R4015:Myo3a	UTSW	2	22,468,182 (GRCm39)	missense	possibly damaging	0.76
R4017:Myo3a	UTSW	2	22,468,182 (GRCm39)	missense	possibly damaging	0.76
R4043:Myo3a	UTSW	2	22,338,350 (GRCm39)	splice site	probably benign
R4044:Myo3a	UTSW	2	22,467,712 (GRCm39)	missense	probably damaging	0.99
R4057:Myo3a	UTSW	2	22,270,971 (GRCm39)	missense	probably benign	0.01
R4192:Myo3a	UTSW	2	22,412,188 (GRCm39)	missense	probably damaging	1.00
R4282:Myo3a	UTSW	2	22,345,089 (GRCm39)	missense	probably benign	0.14
R4321:Myo3a	UTSW	2	22,271,966 (GRCm39)	missense	probably damaging	1.00
R4393:Myo3a	UTSW	2	22,467,866 (GRCm39)	missense	probably damaging	0.99
R4398:Myo3a	UTSW	2	22,467,854 (GRCm39)	missense	probably benign
R4446:Myo3a	UTSW	2	22,490,149 (GRCm39)	missense	probably damaging	1.00
R4685:Myo3a	UTSW	2	22,412,233 (GRCm39)	missense	probably damaging	1.00
R5032:Myo3a	UTSW	2	22,287,413 (GRCm39)	missense	probably damaging	1.00
R5096:Myo3a	UTSW	2	22,464,254 (GRCm39)	missense	probably benign	0.16
R5183:Myo3a	UTSW	2	22,468,170 (GRCm39)	missense	probably benign	0.05
R5458:Myo3a	UTSW	2	22,250,361 (GRCm39)	missense	probably damaging	1.00
R5502:Myo3a	UTSW	2	22,448,381 (GRCm39)	missense	probably damaging	1.00
R5522:Myo3a	UTSW	2	22,464,353 (GRCm39)	missense	probably damaging	1.00
R6462:Myo3a	UTSW	2	22,448,423 (GRCm39)	missense	probably damaging	1.00
R6479:Myo3a	UTSW	2	22,467,877 (GRCm39)	missense	probably benign	0.00
R6513:Myo3a	UTSW	2	22,412,143 (GRCm39)	missense	probably damaging	1.00
R6520:Myo3a	UTSW	2	22,404,737 (GRCm39)	missense	possibly damaging	0.90
R6602:Myo3a	UTSW	2	22,467,799 (GRCm39)	missense	probably damaging	0.96
R6671:Myo3a	UTSW	2	22,299,333 (GRCm39)	missense	probably damaging	1.00
R6743:Myo3a	UTSW	2	22,366,475 (GRCm39)	missense	probably benign	0.24
R6865:Myo3a	UTSW	2	22,464,313 (GRCm39)	missense	probably benign	0.00
R6961:Myo3a	UTSW	2	22,250,369 (GRCm39)	missense	probably benign	0.00
R7001:Myo3a	UTSW	2	22,337,188 (GRCm39)	missense	probably benign	0.04
R7215:Myo3a	UTSW	2	22,250,378 (GRCm39)	missense	possibly damaging	0.78
R7301:Myo3a	UTSW	2	22,436,504 (GRCm39)	critical splice donor site	probably null
R7318:Myo3a	UTSW	2	22,448,332 (GRCm39)	nonsense	probably null
R7447:Myo3a	UTSW	2	22,436,464 (GRCm39)	missense	probably benign	0.27
R7456:Myo3a	UTSW	2	22,412,255 (GRCm39)	missense	probably benign	0.08
R7528:Myo3a	UTSW	2	22,270,925 (GRCm39)	nonsense	probably null
R7731:Myo3a	UTSW	2	22,287,400 (GRCm39)	missense	probably damaging	1.00
R7768:Myo3a	UTSW	2	22,245,954 (GRCm39)	missense	probably damaging	0.99
R8054:Myo3a	UTSW	2	22,464,329 (GRCm39)	missense	probably benign	0.00
R8140:Myo3a	UTSW	2	22,412,157 (GRCm39)	missense	probably damaging	1.00
R8143:Myo3a	UTSW	2	22,287,476 (GRCm39)	critical splice donor site	probably null
R8346:Myo3a	UTSW	2	22,448,434 (GRCm39)	critical splice donor site	probably null
R8421:Myo3a	UTSW	2	22,366,935 (GRCm39)	missense	probably benign	0.07
R8495:Myo3a	UTSW	2	22,401,084 (GRCm39)	missense	probably damaging	0.96
R8551:Myo3a	UTSW	2	22,337,277 (GRCm39)	missense	probably benign	0.00
R8708:Myo3a	UTSW	2	22,296,607 (GRCm39)	splice site	probably benign
R8757:Myo3a	UTSW	2	22,448,319 (GRCm39)	missense	possibly damaging	0.49
R8759:Myo3a	UTSW	2	22,448,319 (GRCm39)	missense	possibly damaging	0.49
R8779:Myo3a	UTSW	2	22,250,404 (GRCm39)	nonsense	probably null
R8828:Myo3a	UTSW	2	22,245,864 (GRCm39)	missense	probably benign	0.01
R8910:Myo3a	UTSW	2	22,464,280 (GRCm39)	missense	probably benign	0.01
R8916:Myo3a	UTSW	2	22,457,704 (GRCm39)	missense	probably damaging	1.00
R8926:Myo3a	UTSW	2	22,401,074 (GRCm39)	missense	possibly damaging	0.95
R9028:Myo3a	UTSW	2	22,490,099 (GRCm39)	missense	possibly damaging	0.79
R9046:Myo3a	UTSW	2	22,448,367 (GRCm39)	missense	probably damaging	0.99
R9120:Myo3a	UTSW	2	22,436,464 (GRCm39)	missense	probably benign	0.27
R9153:Myo3a	UTSW	2	22,404,744 (GRCm39)	missense	probably benign	0.02
R9191:Myo3a	UTSW	2	22,469,841 (GRCm39)	missense	probably benign	0.24
R9258:Myo3a	UTSW	2	22,467,545 (GRCm39)	missense	possibly damaging	0.60
R9436:Myo3a	UTSW	2	22,412,235 (GRCm39)	nonsense	probably null
R9487:Myo3a	UTSW	2	22,245,862 (GRCm39)	missense	probably benign
R9719:Myo3a	UTSW	2	22,436,493 (GRCm39)	missense	probably benign	0.02
R9799:Myo3a	UTSW	2	22,490,181 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo3a	UTSW	2	22,508,152 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GCATCTAGCTAACCACTGGACAG -3'
(R):5'- GCGGATGAAAATTCAAATGCTCTC -3'

Sequencing Primer
(F):5'- CAGCAACTCTGGGCGAC -3'
(R):5'- CTACAAACCCTATTCCTCAGGTC -3'

Posted On

2022-06-15