Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Myo3a'

686848

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22232314-22508264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22490099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1487 (S1487T)

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044749
AA Change: S1487T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: S1487T

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

possibly damaging
Transcript: ENSMUST00000138863
AA Change: S549T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: S549T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,306,967 (GRCm39)	Y219H	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hibch	T	C	1: 52,892,868 (GRCm39)	L26P	possibly damaging	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,807,032 (GRCm39)	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,765,612 (GRCm39)	I334N	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zfpm2	A	C	15: 40,966,758 (GRCm39)	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		probably benign	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
R0968:Myo3a	UTSW	2	22,448,301 (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
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'- AAAGGTCCAGGCCTCATACC -3'
(R):5'- GCAAGGCCTTCTTTTGAGGC -3'

Sequencing Primer
(F):5'- GTGGTGCACGCCTTTAATACCAG -3'
(R):5'- TTTTGAGGCAGCCCAATGC -3'

Posted On

2021-11-19