Mutagenetix > Incidental Mutation

Incidental Mutation 'R0968:Myo3a'

83937

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

039097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22232314-22508264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22448301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 25 (N25K)

Ref Sequence

ENSEMBL: ENSMUSP00000116185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000138863]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044749
AA Change: N963K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: N963K

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: ENSMUST00000138863
AA Change: N25K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: N25K

Domain	Start	End	E-Value	Type
Pfam:Myosin_head	1	110	1.7e-28	PFAM
IQ	123	145	2.88e1	SMART
IQ	150	172	9.48e-3	SMART
low complexity region	215	231	N/A	INTRINSIC
low complexity region	421	431	N/A	INTRINSIC
low complexity region	558	567	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.0%
20x: 96.7%

Validation Efficiency

94% (34/36)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,967 (GRCm39)	V719M	probably damaging	Het
Abca13	A	G	11: 9,248,016 (GRCm39)	S2588G	probably benign	Het
Acaca	C	T	11: 84,129,859 (GRCm39)	Q405*	probably null	Het
Brms1l	G	A	12: 55,912,798 (GRCm39)	D264N	possibly damaging	Het
Cabcoco1	T	C	10: 68,272,202 (GRCm39)	M254V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Coro7	G	C	16: 4,487,919 (GRCm39)		probably benign	Het
Cylc2	A	G	4: 51,216,706 (GRCm39)	M1V	probably null	Het
Cyp3a11	G	A	5: 145,799,324 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,906,641 (GRCm39)	T4224M	probably damaging	Het
Dnah2	T	C	11: 69,339,345 (GRCm39)	E3054G	possibly damaging	Het
Dnm3	A	G	1: 161,847,388 (GRCm39)		probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Fgf12	T	C	16: 27,981,185 (GRCm39)	N177S	probably null	Het
Flt3	C	T	5: 147,278,037 (GRCm39)	V846I	possibly damaging	Het
Gm11569	A	T	11: 99,689,250 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,303 (GRCm39)	V181G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Lars1	C	A	18: 42,351,648 (GRCm39)	R852L	probably benign	Het
Lca5	T	C	9: 83,305,222 (GRCm39)	T195A	probably benign	Het
Lrrc40	G	A	3: 157,742,426 (GRCm39)	D14N	probably damaging	Het
Map4k2	T	C	19: 6,395,487 (GRCm39)	S327P	probably damaging	Het
Mpp4	A	G	1: 59,169,249 (GRCm39)	F397L	probably damaging	Het
Mtus2	T	C	5: 148,014,994 (GRCm39)	S596P	probably benign	Het
Nadsyn1	T	C	7: 143,359,770 (GRCm39)	T401A	probably benign	Het
Pde6a	A	T	18: 61,386,809 (GRCm39)	E395D	probably damaging	Het
Plekhm2	A	G	4: 141,357,243 (GRCm39)	V743A	probably benign	Het
Pzp	A	T	6: 128,502,108 (GRCm39)	D80E	probably benign	Het
Rp1	A	T	1: 4,415,575 (GRCm39)	C1846S	probably benign	Het
Shbg	A	G	11: 69,508,014 (GRCm39)	L117P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Supt20	A	G	3: 54,615,821 (GRCm39)		probably benign	Het
Vcpip1	A	T	1: 9,816,604 (GRCm39)	I593N	probably damaging	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
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
R9464:Myo3a	UTSW	2	22,232,383 (GRCm39)	start gained	probably benign
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'- GGCAACCTCCTAGTTATTGCCTCTACA -3'
(R):5'- GAGCCTTAGACCCTCCAGCATCTT -3'

Sequencing Primer
(F):5'- CTGTGACTAACCACTTGTAACG -3'
(R):5'- TGTCTCACCACAGAGGCATC -3'

Posted On

2013-11-08