Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Myo3a'

158623

Institutional Source

Beutler Lab

Gene Symbol

Myo3a

Ensembl Gene

ENSMUSG00000025716

Gene Name

myosin IIIA

Synonyms

9030416P08Rik

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22232314-22508264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22287437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 191 (N191I)

Ref Sequence

ENSEMBL: ENSMUSP00000046329 (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: N191I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: N191I

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

possibly damaging
Transcript: ENSMUST00000153002
AA Change: N183I

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: N183I

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: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	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
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'- TGATGTTTCAGCCCAGTGGCAG -3'
(R):5'- TCTGGGAAACAGCAACCCACTTTAC -3'

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

Posted On

2014-03-14