Mutagenetix > Incidental Mutation

Incidental Mutation 'R1722:Myo3a'

191521

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

039754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22227503-22618252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22399827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 665 (T665A)

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044749
AA Change: T665A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: T665A

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 benign
Transcript: ENSMUST00000153002
AA Change: T657A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: T657A

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	T	2: 103,993,928 (GRCm38)		probably null	Het
Adss1	A	T	12: 112,636,481 (GRCm38)	I346F	possibly damaging	Het
Ahnak	T	A	19: 9,010,655 (GRCm38)	L3101H	probably damaging	Het
Aldh3b3	A	G	19: 3,964,871 (GRCm38)	I123V	possibly damaging	Het
Angptl1	C	T	1: 156,857,085 (GRCm38)	P275S	possibly damaging	Het
Apoa5	C	T	9: 46,270,549 (GRCm38)	Q308*	probably null	Het
Arhgef12	T	C	9: 43,020,717 (GRCm38)	*106W	probably null	Het
Atp2c1	A	G	9: 105,439,400 (GRCm38)	Y485H	probably benign	Het
Atp6v1b1	C	T	6: 83,743,092 (GRCm38)	T3I	possibly damaging	Het
Btbd7	A	T	12: 102,812,654 (GRCm38)	I451N	possibly damaging	Het
Clasp1	T	G	1: 118,590,464 (GRCm38)	L1080R	probably damaging	Het
Clec4f	A	G	6: 83,646,933 (GRCm38)	V408A	probably benign	Het
Clint1	T	A	11: 45,906,406 (GRCm38)	M438K	possibly damaging	Het
Cuzd1	A	T	7: 131,311,644 (GRCm38)	Y415N	probably damaging	Het
Ddias	A	G	7: 92,860,042 (GRCm38)	F222L	possibly damaging	Het
Efcab7	A	T	4: 99,900,618 (GRCm38)	T321S	probably benign	Het
Elp3	A	T	14: 65,551,397 (GRCm38)	D393E	probably benign	Het
Fbn2	T	C	18: 58,048,052 (GRCm38)		probably null	Het
Fcgr3	T	C	1: 171,054,119 (GRCm38)	R146G	possibly damaging	Het
Fkrp	G	A	7: 16,810,794 (GRCm38)	A381V	probably benign	Het
Gatad2b	T	G	3: 90,355,679 (GRCm38)	I476S	probably damaging	Het
Gm1527	C	T	3: 28,921,634 (GRCm38)	H557Y	probably benign	Het
Gm2431	A	T	7: 142,257,862 (GRCm38)	C102S	unknown	Het
Hoxd13	A	G	2: 74,670,045 (GRCm38)	N310S	probably benign	Het
Il9	T	A	13: 56,479,395 (GRCm38)	T135S	probably benign	Het
Ints4	A	C	7: 97,513,579 (GRCm38)	N476T	probably benign	Het
Kcnq4	A	C	4: 120,702,427 (GRCm38)	D525E	probably benign	Het
Kncn	A	T	4: 115,885,899 (GRCm38)	Y57F	probably damaging	Het
Lpl	TGG	TG	8: 68,896,602 (GRCm38)		probably null	Het
Lrrfip2	A	G	9: 111,199,761 (GRCm38)	T351A	probably damaging	Het
Madd	T	C	2: 91,167,637 (GRCm38)	E682G	probably benign	Het
Marchf7	A	C	2: 60,234,182 (GRCm38)	R267S	probably damaging	Het
Mmp16	T	A	4: 18,051,767 (GRCm38)	L252Q	probably damaging	Het
Mri1	A	T	8: 84,253,925 (GRCm38)	V296D	possibly damaging	Het
N4bp2	T	C	5: 65,806,882 (GRCm38)	V758A	probably benign	Het
Nbea	T	C	3: 55,665,695 (GRCm38)	D2489G	probably damaging	Het
Neb	T	C	2: 52,256,745 (GRCm38)	T2836A	probably damaging	Het
Nedd4l	T	A	18: 65,157,939 (GRCm38)	V203E	probably damaging	Het
Nkpd1	C	A	7: 19,523,921 (GRCm38)	Q392K	possibly damaging	Het
Nploc4	G	T	11: 120,382,569 (GRCm38)	A576E	probably benign	Het
Nxph1	T	A	6: 9,247,516 (GRCm38)	N162K	probably damaging	Het
Or3a1	T	C	11: 74,334,445 (GRCm38)	Y262C	probably damaging	Het
Or7c70	T	A	10: 78,846,971 (GRCm38)	T315S	probably benign	Het
Pabpc2	T	G	18: 39,775,116 (GRCm38)	I478S	probably benign	Het
Pde7b	G	T	10: 20,436,244 (GRCm38)	H190Q	probably damaging	Het
Plekha2	A	T	8: 25,042,960 (GRCm38)	S332T	probably benign	Het
Rapgef6	TG	TGG	11: 54,546,397 (GRCm38)		probably null	Het
Rasl11a	A	T	5: 146,845,242 (GRCm38)	H9L	probably benign	Het
Rer1	A	T	4: 155,075,001 (GRCm38)	F177I	probably damaging	Het
Rinl	T	C	7: 28,792,244 (GRCm38)	L74P	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Rttn	T	C	18: 88,973,531 (GRCm38)	V78A	probably benign	Het
Skint5	A	T	4: 113,846,311 (GRCm38)		probably null	Het
Tenm2	A	C	11: 36,008,103 (GRCm38)	Y2743D	probably damaging	Het
Tmem101	T	C	11: 102,154,693 (GRCm38)	Y110C	probably damaging	Het
Trim9	T	C	12: 70,248,374 (GRCm38)	N658S	probably benign	Het
Ucp1	A	T	8: 83,290,688 (GRCm38)	T36S	probably benign	Het
Vmn2r43	A	G	7: 8,255,068 (GRCm38)	I382T	probably damaging	Het
Zfp142	C	T	1: 74,569,776 (GRCm38)	R1620Q	probably damaging	Het
Zfp386	T	C	12: 116,059,906 (GRCm38)	S380P	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
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
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'- TGGCACTCAACAGTGGCTTCTTTG -3'
(R):5'- AAGTGTAAAATGGTAGACCCTGCATGG -3'

Sequencing Primer
(F):5'- CAACAGTGGCTTCTTTGTATACC -3'
(R):5'- GCCACAGTTTTCAGTATAGCATTC -3'

Posted On

2014-05-14