Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Myo3a'

167075

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

039563-MU

Accession Numbers

Genbank: NM_148413; MGI: 2183924

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22282634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 186 (V186L)

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: V194L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: V194L

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: ENSMUST00000138850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142435

Predicted Effect

probably damaging
Transcript: ENSMUST00000153002
AA Change: V186L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: V186L

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

0.3068

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,971,814 (GRCm38)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,178,800 (GRCm38)	N318S	probably damaging	Het
Akap5	A	C	12: 76,329,262 (GRCm38)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,532,061 (GRCm38)	I385F	probably damaging	Het
Astn1	T	A	1: 158,579,576 (GRCm38)		probably benign	Het
Atp7b	T	A	8: 21,997,358 (GRCm38)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,662,339 (GRCm38)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,319,089 (GRCm38)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,598,759 (GRCm38)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,061,681 (GRCm38)	T56A	probably damaging	Het
Cep78	A	G	19: 15,959,663 (GRCm38)	S560P	probably damaging	Het
Cnot1	G	A	8: 95,743,213 (GRCm38)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,064,257 (GRCm38)	S65P	probably damaging	Het
Creld1	T	A	6: 113,489,784 (GRCm38)	C243S	probably damaging	Het
Cst12	A	T	2: 148,793,252 (GRCm38)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,698,860 (GRCm38)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,558,136 (GRCm38)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,407,456 (GRCm38)	S227C	probably damaging	Het
Evc	T	A	5: 37,319,035 (GRCm38)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,898 (GRCm38)	L351*	probably null	Het
Fga	T	C	3: 83,031,838 (GRCm38)	S507P	probably benign	Het
Gba	A	T	3: 89,206,148 (GRCm38)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,305,984 (GRCm38)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm38)	L64F	probably damaging	Het
Hectd3	A	G	4: 117,002,994 (GRCm38)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,669,421 (GRCm38)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,690,245 (GRCm38)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,466,325 (GRCm38)	L243*	probably null	Het
Kank4	C	A	4: 98,779,029 (GRCm38)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,373,791 (GRCm38)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,238,209 (GRCm38)	Y696H	probably damaging	Het
Kctd19	C	A	8: 105,395,376 (GRCm38)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,115,640 (GRCm38)	S233A	probably benign	Het
Masp2	A	T	4: 148,612,106 (GRCm38)	T387S	possibly damaging	Het
Midn	C	A	10: 80,154,123 (GRCm38)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,133,813 (GRCm38)	F965L	probably benign	Het
Ncoa2	T	A	1: 13,165,057 (GRCm38)	N884I	probably benign	Het
Olfr1082	T	A	2: 86,594,604 (GRCm38)	T75S	probably damaging	Het
Olfr272	A	T	4: 52,911,502 (GRCm38)	C97*	probably null	Het
Olfr963	T	C	9: 39,669,720 (GRCm38)	I221T	probably damaging	Het
Osr2	T	C	15: 35,300,667 (GRCm38)	V123A	probably benign	Het
P4ha2	A	G	11: 54,117,645 (GRCm38)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,478,098 (GRCm38)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,489,620 (GRCm38)	M1K	probably null	Het
Pcsk1	T	A	13: 75,098,047 (GRCm38)	Y181*	probably null	Het
Pros1	G	T	16: 62,885,512 (GRCm38)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,001 (GRCm38)	C353*	probably null	Het
Rev3l	T	C	10: 39,838,443 (GRCm38)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rpl12-ps1	G	T	1: 36,958,377 (GRCm38)		noncoding transcript	Het
Rttn	T	C	18: 89,113,350 (GRCm38)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,505,027 (GRCm38)		probably benign	Het
Sdk1	T	C	5: 142,127,836 (GRCm38)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,354,975 (GRCm38)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,408,847 (GRCm38)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm38)	I60T	probably damaging	Het
Sox10	T	A	15: 79,159,178 (GRCm38)	E218D	probably benign	Het
Tekt3	C	A	11: 63,070,490 (GRCm38)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,684,738 (GRCm38)	S246G	possibly damaging	Het
Trim10	T	A	17: 36,872,454 (GRCm38)	I214N	probably damaging	Het
Trp63	C	A	16: 25,889,253 (GRCm38)	D566E	probably damaging	Het
Uck2	T	C	1: 167,234,724 (GRCm38)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,059,605 (GRCm38)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,438,236 (GRCm38)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,710,644 (GRCm38)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,252,151 (GRCm38)	E445G	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
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
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'- TGATGTTTCAGCCCAGTGGCAG -3'
(R):5'- TCTGGGAAACAGCAACCCACTTTAC -3'

Sequencing Primer
(F):5'- GCTCTGAGGGAACAGACTGC -3'
(R):5'- cctgtaatctcagcattcagaag -3'

Posted On

2014-04-13