Mutagenetix > Incidental Mutations

Incidental Mutation 'R7731:Myo3a'

595804

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

Accession Numbers

Genbank: NM_148413; MGI: 2183924

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22282589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 179 (V179M)

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (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: V179M

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

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: V179M

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

probably damaging
Transcript: ENSMUST00000153002
AA Change: V171M

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

SMART Domains

Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: V171M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	C	T	16: 13,677,759	R241C	probably damaging	Het
A430078G23Rik	G	A	8: 3,384,936	V194M	probably damaging	Het
A4gnt	A	G	9: 99,620,417	E210G	possibly damaging	Het
Accsl	T	C	2: 93,861,018	T372A	probably benign	Het
Adgrf5	T	A	17: 43,450,560	S1049T	probably damaging	Het
Agmo	G	A	12: 37,414,940	R405K	probably benign	Het
Akap3	A	G	6: 126,865,068	T217A	probably benign	Het
Ankfy1	T	A	11: 72,712,281	N45K	probably benign	Het
Ankrd11	G	A	8: 122,895,433	T560I	probably benign	Het
Aqp1	T	C	6: 55,345,819	Y186H	possibly damaging	Het
Arnt	T	C	3: 95,483,775	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,841,400	L2P	unknown	Het
Bco1	C	A	8: 117,131,068	S477R	possibly damaging	Het
Brd4	A	G	17: 32,211,224	S703P	possibly damaging	Het
Ceacam3	T	A	7: 17,158,350	N339K		Het
Cebpb	A	G	2: 167,689,206	D62G	probably damaging	Het
Clca4a	T	C	3: 144,952,785	I890V	probably benign	Het
Cyp2d9	A	G	15: 82,455,432		probably null	Het
Cyth1	T	C	11: 118,169,053	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,562,367	H962L	probably damaging	Het
Dhtkd1	T	G	2: 5,924,112	L249F	probably benign	Het
Dnah7b	T	A	1: 46,139,745	H859Q	probably benign	Het
E2f4	A	G	8: 105,298,633	D115G	probably damaging	Het
Exoc3l4	G	C	12: 111,430,748	D688H	possibly damaging	Het
Fan1	C	T	7: 64,372,696	V270I	probably benign	Het
Fat2	A	T	11: 55,310,706	I514N	probably damaging	Het
Fndc1	G	A	17: 7,773,439	T475I	unknown	Het
Fstl5	T	A	3: 76,661,762	I574N	probably damaging	Het
Fzd4	T	C	7: 89,408,050	V435A	possibly damaging	Het
Fzd6	T	C	15: 39,033,932	F492S	probably damaging	Het
Gm4924	T	A	10: 82,377,527	N386K	unknown	Het
Gm8994	A	G	6: 136,328,873	I111V	probably benign	Het
Hbp1	A	T	12: 31,933,368	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,307,014	M105L	probably benign	Het
Hivep2	C	T	10: 14,149,714	P2424L	probably benign	Het
Hspa4	A	T	11: 53,266,964		probably null	Het
Igf2bp3	A	G	6: 49,134,731	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,539,143	N402K	possibly damaging	Het
Ip6k1	T	C	9: 108,044,728	F207S	probably damaging	Het
Kbtbd8	C	A	6: 95,118,578	N24K	probably benign	Het
Krtap10-4	T	G	10: 77,826,820	T75P	unknown	Het
Macf1	C	A	4: 123,444,879	S4355I	probably benign	Het
Muc5b	A	T	7: 141,857,305		probably null	Het
Nup210	G	T	6: 91,071,888	T462K	possibly damaging	Het
Olfr1106	T	C	2: 87,049,234	M1V	probably null	Het
Olfr365	A	G	2: 37,201,549	M103V	probably benign	Het
Olfr561	A	G	7: 102,774,934	I137V	probably benign	Het
Olfr743	T	A	14: 50,533,684	S91T	probably damaging	Het
Olfr920	A	G	9: 38,756,246	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,346,918	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,756,511	N191Y	probably benign	Het
Pcsk6	A	T	7: 66,033,893	Q752L	probably benign	Het
Pfas	T	C	11: 69,000,045	T347A	probably damaging	Het
Pkd1	A	T	17: 24,573,898	R1520W	probably damaging	Het
Prpf8	T	C	11: 75,508,906	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,151,364	R612S	probably benign	Het
Ptch2	T	A	4: 117,108,295	F359Y	probably benign	Het
Ptprr	A	C	10: 116,237,295	D474A	probably damaging	Het
Pum1	C	A	4: 130,762,963	Q846K	probably benign	Het
Slc22a14	C	T	9: 119,170,611	A505T	possibly damaging	Het
Smpdl3a	A	G	10: 57,802,554	Y151C	probably damaging	Het
Snrnp200	A	G	2: 127,229,102	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Sptlc1	A	G	13: 53,333,957	V450A	probably benign	Het
Sqle	A	G	15: 59,315,972	Y43C	probably benign	Het
Srgap3	T	C	6: 112,766,897	H460R	probably benign	Het
Syt15	A	T	14: 34,223,067	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 127,198,821	K716R	probably benign	Het
Tbx20	T	C	9: 24,770,697	I120M	probably damaging	Het
Tgm1	T	G	14: 55,710,521	I274L	probably benign	Het
Tmem156	C	T	5: 65,075,562		probably null	Het
Tnk2	A	G	16: 32,670,134	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,758,694	S306G	possibly damaging	Het
Tut1	T	A	19: 8,959,262	V150D	probably benign	Het
Uchl5	T	C	1: 143,794,537	F143L		Het
Vmn1r23	T	C	6: 57,926,334	K153R	probably benign	Het
Zfp236	A	T	18: 82,680,673	D94E	probably benign	Het
Zfp759	T	C	13: 67,139,626	Y414H	possibly damaging	Het

Other mutations in Myo3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Myo3a	APN	2	22332473	missense	probably benign	0.42
IGL01307:Myo3a	APN	2	22558289	missense	probably damaging	1.00
IGL01413:Myo3a	APN	2	22297600	missense	probably benign	0.25
IGL01655:Myo3a	APN	2	22423326	missense	probably damaging	1.00
IGL01767:Myo3a	APN	2	22423222	missense	probably damaging	0.96
IGL01803:Myo3a	APN	2	22241115	missense	probably damaging	1.00
IGL01969:Myo3a	APN	2	22297688	missense	probably benign	0.03
IGL02043:Myo3a	APN	2	22399965	missense	probably benign	0.01
IGL02124:Myo3a	APN	2	22577526	missense	probably benign	0.01
IGL02174:Myo3a	APN	2	22332393	missense	probably benign	0.04
IGL02649:Myo3a	APN	2	22323607	missense	probably benign
IGL02976:Myo3a	APN	2	22542452	nonsense	probably null
IGL03328:Myo3a	APN	2	22578198	missense	probably benign	0.02
IGL03376:Myo3a	APN	2	22600074	splice site	probably benign
lose	UTSW	2	22558320	nonsense	probably null
snooze	UTSW	2	22282634	missense	probably damaging	0.99
A5278:Myo3a	UTSW	2	22323653	missense	probably benign	0.27
PIT4445001:Myo3a	UTSW	2	22542415	missense	possibly damaging	0.64
R0008:Myo3a	UTSW	2	22579741	missense	probably damaging	0.99
R0099:Myo3a	UTSW	2	22245598	missense	probably benign	0.03
R0103:Myo3a	UTSW	2	22544322	splice site	probably benign
R0103:Myo3a	UTSW	2	22544322	splice site	probably benign
R0212:Myo3a	UTSW	2	22291848	missense	probably damaging	1.00
R0281:Myo3a	UTSW	2	22245598	missense	probably benign	0.03
R0282:Myo3a	UTSW	2	22245598	missense	probably benign	0.03
R0492:Myo3a	UTSW	2	22323636	missense	possibly damaging	0.46
R0498:Myo3a	UTSW	2	22577429	missense	possibly damaging	0.74
R0594:Myo3a	UTSW	2	22544332	splice site	probably benign
R0609:Myo3a	UTSW	2	22333513	missense	probably benign	0.29
R0609:Myo3a	UTSW	2	22396299	missense	possibly damaging	0.95
R0827:Myo3a	UTSW	2	22558215	missense	probably damaging	1.00
R0968:Myo3a	UTSW	2	22558289	missense	probably damaging	1.00
R1157:Myo3a	UTSW	2	22542414	critical splice acceptor site	probably null
R1301:Myo3a	UTSW	2	22267095	splice site	probably benign
R1352:Myo3a	UTSW	2	22323675	critical splice donor site	probably null
R1443:Myo3a	UTSW	2	22282626	missense	probably damaging	0.99
R1465:Myo3a	UTSW	2	22577927	missense	probably benign	0.00
R1465:Myo3a	UTSW	2	22577927	missense	probably benign	0.00
R1517:Myo3a	UTSW	2	22282634	missense	probably damaging	0.99
R1565:Myo3a	UTSW	2	22340280	missense	probably damaging	1.00
R1712:Myo3a	UTSW	2	22564992	missense	probably damaging	1.00
R1722:Myo3a	UTSW	2	22399827	missense	probably benign	0.03
R1822:Myo3a	UTSW	2	22340280	missense	probably damaging	1.00
R1823:Myo3a	UTSW	2	22340280	missense	probably damaging	1.00
R1824:Myo3a	UTSW	2	22396243	missense	probably benign
R1837:Myo3a	UTSW	2	22577592	missense	possibly damaging	0.76
R1867:Myo3a	UTSW	2	22399846	missense	probably benign	0.00
R1917:Myo3a	UTSW	2	22291922	missense	probably damaging	1.00
R1920:Myo3a	UTSW	2	22564996	missense	probably benign	0.02
R1937:Myo3a	UTSW	2	22396315	missense	probably damaging	1.00
R1954:Myo3a	UTSW	2	22241226	missense	probably damaging	1.00
R1988:Myo3a	UTSW	2	22578128	missense	possibly damaging	0.86
R2091:Myo3a	UTSW	2	22333677	missense	probably damaging	0.99
R2115:Myo3a	UTSW	2	22245531	missense	probably damaging	1.00
R2125:Myo3a	UTSW	2	22578174	missense	probably benign	0.42
R2126:Myo3a	UTSW	2	22578174	missense	probably benign	0.42
R2216:Myo3a	UTSW	2	22577771	missense	probably benign	0.00
R2413:Myo3a	UTSW	2	22577912	missense	probably benign	0.00
R2964:Myo3a	UTSW	2	22340256	missense	possibly damaging	0.90
R3196:Myo3a	UTSW	2	22399868	missense	possibly damaging	0.86
R3837:Myo3a	UTSW	2	22565109	splice site	probably benign
R3905:Myo3a	UTSW	2	22558215	missense	probably damaging	1.00
R3926:Myo3a	UTSW	2	22565041	missense	probably damaging	0.99
R4014:Myo3a	UTSW	2	22578170	missense	possibly damaging	0.76
R4015:Myo3a	UTSW	2	22578170	missense	possibly damaging	0.76
R4017:Myo3a	UTSW	2	22578170	missense	possibly damaging	0.76
R4043:Myo3a	UTSW	2	22333539	splice site	probably benign
R4044:Myo3a	UTSW	2	22577700	missense	probably damaging	0.99
R4057:Myo3a	UTSW	2	22266160	missense	probably benign	0.01
R4192:Myo3a	UTSW	2	22407377	missense	probably damaging	1.00
R4282:Myo3a	UTSW	2	22340278	missense	probably benign	0.14
R4321:Myo3a	UTSW	2	22267155	missense	probably damaging	1.00
R4393:Myo3a	UTSW	2	22577854	missense	probably damaging	0.99
R4398:Myo3a	UTSW	2	22577842	missense	probably benign
R4446:Myo3a	UTSW	2	22600137	missense	probably damaging	1.00
R4685:Myo3a	UTSW	2	22407422	missense	probably damaging	1.00
R5032:Myo3a	UTSW	2	22282602	missense	probably damaging	1.00
R5096:Myo3a	UTSW	2	22574242	missense	probably benign	0.16
R5183:Myo3a	UTSW	2	22578158	missense	probably benign	0.05
R5458:Myo3a	UTSW	2	22245550	missense	probably damaging	1.00
R5502:Myo3a	UTSW	2	22558369	missense	probably damaging	1.00
R5522:Myo3a	UTSW	2	22574341	missense	probably damaging	1.00
R6462:Myo3a	UTSW	2	22558411	missense	probably damaging	1.00
R6479:Myo3a	UTSW	2	22577865	missense	probably benign	0.00
R6513:Myo3a	UTSW	2	22407332	missense	probably damaging	1.00
R6520:Myo3a	UTSW	2	22399926	missense	possibly damaging	0.90
R6602:Myo3a	UTSW	2	22577787	missense	probably damaging	0.96
R6671:Myo3a	UTSW	2	22294522	missense	probably damaging	1.00
R6743:Myo3a	UTSW	2	22361664	missense	probably benign	0.24
R6865:Myo3a	UTSW	2	22574301	missense	probably benign	0.00
R6961:Myo3a	UTSW	2	22245558	missense	probably benign	0.00
R7001:Myo3a	UTSW	2	22332377	missense	probably benign	0.04
R7215:Myo3a	UTSW	2	22245567	missense	possibly damaging	0.78
R7301:Myo3a	UTSW	2	22544466	critical splice donor site	probably null
R7318:Myo3a	UTSW	2	22558320	nonsense	probably null
R7447:Myo3a	UTSW	2	22544426	missense	probably benign	0.27
R7456:Myo3a	UTSW	2	22407444	missense	probably benign	0.08
R7528:Myo3a	UTSW	2	22266114	nonsense	probably null
R7768:Myo3a	UTSW	2	22241143	missense	probably damaging	0.99
R8054:Myo3a	UTSW	2	22574317	missense	probably benign	0.00
R8140:Myo3a	UTSW	2	22407346	missense	probably damaging	1.00
R8143:Myo3a	UTSW	2	22282665	critical splice donor site	probably null
R8346:Myo3a	UTSW	2	22558422	critical splice donor site	probably null
R8421:Myo3a	UTSW	2	22362124	missense	probably benign	0.07
R8495:Myo3a	UTSW	2	22396273	missense	probably damaging	0.96
R8551:Myo3a	UTSW	2	22332466	missense	probably benign	0.00
R8708:Myo3a	UTSW	2	22291796	splice site	probably benign
R8757:Myo3a	UTSW	2	22558307	missense	possibly damaging	0.49
R8759:Myo3a	UTSW	2	22558307	missense	possibly damaging	0.49
R8779:Myo3a	UTSW	2	22245593	nonsense	probably null
R8828:Myo3a	UTSW	2	22241053	missense	probably benign	0.01
R8910:Myo3a	UTSW	2	22574268	missense	probably benign	0.01
R8916:Myo3a	UTSW	2	22567692	missense	probably damaging	1.00
R8926:Myo3a	UTSW	2	22396263	missense	possibly damaging	0.95
R9028:Myo3a	UTSW	2	22600087	missense	possibly damaging	0.79
R9046:Myo3a	UTSW	2	22558355	missense	probably damaging	0.99
R9120:Myo3a	UTSW	2	22544426	missense	probably benign	0.27
R9153:Myo3a	UTSW	2	22399933	missense	probably benign	0.02
R9191:Myo3a	UTSW	2	22579829	missense	probably benign	0.24
R9258:Myo3a	UTSW	2	22577533	missense	possibly damaging	0.60
R9436:Myo3a	UTSW	2	22407424	nonsense	probably null
R9464:Myo3a	UTSW	2	22227572	start gained	probably benign
Z1177:Myo3a	UTSW	2	22618140	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TTCACACAGGGCTTACAGTTG -3'
(R):5'- TGGTATAGTCCAACACATTTAGGG -3'

Sequencing Primer
(F):5'- CACACAGGGCTTACAGTTGTATAG -3'
(R):5'- TAGTCCAACACATTTAGGGAGAAAAG -3'

Posted On

2019-11-12