Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Myo3a'

34445

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0103 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 22544322 bp (GRCm38)

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951 (GRCm38)	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452 (GRCm38)		probably benign	Het
Aqr	T	A	2: 114,149,016 (GRCm38)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721 (GRCm38)		probably benign	Het
Asah2	G	T	19: 32,018,977 (GRCm38)	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483 (GRCm38)	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545 (GRCm38)	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919 (GRCm38)	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174 (GRCm38)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125 (GRCm38)	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554 (GRCm38)	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141 (GRCm38)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272 (GRCm38)	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311 (GRCm38)	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915 (GRCm38)	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710 (GRCm38)	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,676,308 (GRCm38)	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309 (GRCm38)	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788 (GRCm38)	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446 (GRCm38)	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205 (GRCm38)	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270 (GRCm38)	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193 (GRCm38)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172 (GRCm38)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943 (GRCm38)	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550 (GRCm38)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221 (GRCm38)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm38)	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538 (GRCm38)	N627K	probably benign	Het
Gm20388	A	G	8: 122,269,733 (GRCm38)		probably benign	Het
Gnptab	A	G	10: 88,429,519 (GRCm38)	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644 (GRCm38)	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877 (GRCm38)	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613 (GRCm38)	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254 (GRCm38)	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916 (GRCm38)	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236 (GRCm38)	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040 (GRCm38)	V2892L	probably benign	Het
Ltb	A	G	17: 35,195,040 (GRCm38)		probably benign	Het
Masp1	G	A	16: 23,458,018 (GRCm38)	P579L	probably damaging	Het
Mtor	T	A	4: 148,533,902 (GRCm38)	M1724K	probably benign	Het
Myo9b	C	T	8: 71,323,849 (GRCm38)		probably benign	Het
Ncor1	G	T	11: 62,343,045 (GRCm38)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242 (GRCm38)	C53*	probably null	Het
Obscn	G	T	11: 59,062,696 (GRCm38)	Y4044*	probably null	Het
Olfr1458	G	A	19: 13,103,278 (GRCm38)	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425 (GRCm38)	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097 (GRCm38)		probably benign	Het
Phxr4	T	C	9: 13,431,791 (GRCm38)		probably benign	Het
Pkhd1	T	A	1: 20,523,359 (GRCm38)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141 (GRCm38)	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769 (GRCm38)	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,055,283 (GRCm38)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717 (GRCm38)	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425 (GRCm38)		probably benign	Het
Rab4b	A	G	7: 27,174,502 (GRCm38)	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527 (GRCm38)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778 (GRCm38)		probably benign	Het
Rhoc	A	T	3: 104,791,991 (GRCm38)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571 (GRCm38)	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967 (GRCm38)	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897 (GRCm38)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426 (GRCm38)	K4*	probably null	Het
Ss18	A	C	18: 14,679,421 (GRCm38)	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220 (GRCm38)		probably benign	Het
Taar4	A	T	10: 23,961,406 (GRCm38)	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294 (GRCm38)	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,686,390 (GRCm38)	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952 (GRCm38)	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810 (GRCm38)	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948 (GRCm38)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759 (GRCm38)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979 (GRCm38)	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116 (GRCm38)	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453 (GRCm38)		probably null	Het
Ttn	T	G	2: 76,761,226 (GRCm38)	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718 (GRCm38)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070 (GRCm38)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539 (GRCm38)	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335 (GRCm38)	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468 (GRCm38)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113 (GRCm38)	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706 (GRCm38)	H627L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTTCCCGTCCCTCCAAATAAAG -3'
(R):5'- TGCCCATTCCTGAAAATGGCAGAC -3'

Sequencing Primer
(F):5'- TAAAGAAAAGCAGCATACCAGATTC -3'
(R):5'- TTCGAGTAGAGTGAACTCTTCC -3'

Posted On

2013-05-09