Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Myo3a'

430640

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

043063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22232314-22508264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22448381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 52 (I52T)

Ref Sequence

ENSEMBL: ENSMUSP00000116185 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044749
AA Change: I990T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: I990T

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: I52T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: I52T

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

0.8884

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc8	A	G	7: 45,758,262 (GRCm39)	I1268T	probably benign	Het
Accsl	C	T	2: 93,687,289 (GRCm39)		probably null	Het
Actmap	A	G	7: 26,896,542 (GRCm39)	D35G	possibly damaging	Het
Ank3	A	T	10: 69,756,291 (GRCm39)	I842F	probably benign	Het
Bbs9	T	A	9: 22,415,370 (GRCm39)	L98Q	probably damaging	Het
Bin2	A	G	15: 100,543,286 (GRCm39)	V299A	probably benign	Het
Cabp4	G	A	19: 4,181,228 (GRCm39)		probably benign	Het
Ces2f	A	T	8: 105,679,155 (GRCm39)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,082,239 (GRCm39)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,650,138 (GRCm39)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,242,295 (GRCm39)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,419,286 (GRCm39)	G1265W	probably damaging	Het
Corin	G	A	5: 72,473,449 (GRCm39)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,382,702 (GRCm39)	N291S	probably benign	Het
Dap3	T	C	3: 88,832,633 (GRCm39)	Y353C	probably damaging	Het
Disp1	A	G	1: 182,869,450 (GRCm39)	V990A	probably damaging	Het
Dock9	A	T	14: 121,847,594 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,590,114 (GRCm39)	V179E	probably benign	Het
Eps15l1	A	T	8: 73,132,836 (GRCm39)		probably null	Het
Fyb2	A	T	4: 104,802,521 (GRCm39)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,104,227 (GRCm39)	L178*	probably null	Het
Gm15446	A	T	5: 110,088,364 (GRCm39)	K25*	probably null	Het
Gm17067	A	T	7: 42,357,843 (GRCm39)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,925,042 (GRCm39)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,388,125 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,614,252 (GRCm39)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,211,057 (GRCm39)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,513,854 (GRCm39)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,602,916 (GRCm39)	S696R	probably benign	Het
Ide	C	A	19: 37,307,855 (GRCm39)	K52N	unknown	Het
Incenp	C	A	19: 9,870,728 (GRCm39)	L300F	unknown	Het
Ino80	T	C	2: 119,232,877 (GRCm39)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,207,702 (GRCm39)	Y49*	probably null	Het
Mmp15	A	T	8: 96,094,812 (GRCm39)	T229S	possibly damaging	Het
Mtmr4	A	T	11: 87,504,904 (GRCm39)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,411,250 (GRCm39)	G284R	probably damaging	Het
Nat8f5	G	T	6: 85,794,635 (GRCm39)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,350,158 (GRCm39)	H2402Q	probably damaging	Het
Nexn	T	A	3: 151,943,941 (GRCm39)	E331D	probably damaging	Het
Nktr	C	T	9: 121,577,672 (GRCm39)		probably benign	Het
Oaz3	T	C	3: 94,342,392 (GRCm39)	D88G	probably damaging	Het
Or1n1	T	C	2: 36,750,282 (GRCm39)	Y26C	probably damaging	Het
Or4l1	A	G	14: 50,166,993 (GRCm39)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,534,656 (GRCm39)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,803,605 (GRCm39)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,596,681 (GRCm39)	G456V	probably damaging	Het
Qser1	T	C	2: 104,616,919 (GRCm39)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,685,064 (GRCm39)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,587,947 (GRCm39)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,722,113 (GRCm39)	V291F	probably damaging	Het
Rnf121	T	C	7: 101,672,555 (GRCm39)	K276R	probably null	Het
Rtca	G	T	3: 116,282,931 (GRCm39)	Y352*	probably null	Het
Rusf1	C	T	7: 127,884,308 (GRCm39)	V225M	probably damaging	Het
Sacs	T	C	14: 61,443,549 (GRCm39)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,611,710 (GRCm39)	E521K	probably benign	Het
Setd1a	T	C	7: 127,396,420 (GRCm39)		probably null	Het
Slc37a4	G	T	9: 44,313,394 (GRCm39)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,750,366 (GRCm39)	S79*	probably null	Het
Snrpd2	T	C	7: 18,885,247 (GRCm39)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,864,486 (GRCm39)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
St7	G	A	6: 17,834,673 (GRCm39)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,623 (GRCm39)	I223F	probably benign	Het
Syn2	A	C	6: 115,255,313 (GRCm39)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,109,496 (GRCm39)	T327A	probably benign	Het
Timm44	A	T	8: 4,319,992 (GRCm39)	F59I	possibly damaging	Het
Tmem41b	A	T	7: 109,581,970 (GRCm39)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Tusc3	A	T	8: 39,597,947 (GRCm39)	K188*	probably null	Het
Usp39	T	A	6: 72,305,670 (GRCm39)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,321,580 (GRCm39)	N372K	probably damaging	Het
Zfp961	T	A	8: 72,721,903 (GRCm39)	Y139N	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
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
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'- TACTGTGACTAACCACTTGTAACGTTG -3'
(R):5'- TGTCTCACCACAGAGGCATC -3'

Sequencing Primer
(F):5'- TGTCCGTTGCATCAAACC -3'
(R):5'- GAGGCATCCCAGAGCACAG -3'

Posted On

2016-10-05