Incidental Mutation 'R1867:Myo3a'
ID 208791
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1867 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22404657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 663 (I663T)
Ref Sequence ENSEMBL: ENSMUSP00000120573 (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: I671T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: I671T

DomainStartEndE-ValueType
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: I663T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: I663T

DomainStartEndE-ValueType
S_TKc 21 287 1.62e-91 SMART
MYSc 332 753 3.06e-35 SMART
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A T 5: 66,157,560 (GRCm39) M1K probably null Het
Abca4 T A 3: 121,899,010 (GRCm39) I664N probably damaging Het
Acin1 T C 14: 54,881,718 (GRCm39) D335G probably damaging Het
Acoxl A G 2: 127,719,707 (GRCm39) Y156C probably damaging Het
Adamts20 A G 15: 94,236,340 (GRCm39) F844L probably benign Het
Ago1 A G 4: 126,335,029 (GRCm39) Y398H probably damaging Het
Aldob A G 4: 49,543,835 (GRCm39) V49A possibly damaging Het
Arhgap18 A G 10: 26,722,026 (GRCm39) E71G probably damaging Het
Asb12 G T X: 94,513,950 (GRCm39) H307N probably damaging Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
AY358078 T C 14: 52,037,504 (GRCm39) M1T probably null Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brpf3 A G 17: 29,026,342 (GRCm39) M472V probably benign Het
Bsn A G 9: 107,983,918 (GRCm39) S3379P unknown Het
Cap2 T C 13: 46,793,555 (GRCm39) V333A probably damaging Het
Cd207 T A 6: 83,652,635 (GRCm39) D165V probably damaging Het
Cfap210 A T 2: 69,612,181 (GRCm39) probably null Het
Cmtr1 A G 17: 29,893,148 (GRCm39) T496A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Cstb A G 10: 78,263,273 (GRCm39) *99W probably null Het
Cstdc6 T G 16: 36,142,148 (GRCm39) D76A possibly damaging Het
Ddx11 G A 17: 66,442,934 (GRCm39) probably null Het
Dip2c T C 13: 9,671,985 (GRCm39) M990T possibly damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Fmn1 A G 2: 113,539,783 (GRCm39) E1326G probably damaging Het
Focad A T 4: 88,096,326 (GRCm39) D236V probably damaging Het
Fsd1 G A 17: 56,298,254 (GRCm39) S193N probably benign Het
Gm4922 T A 10: 18,660,211 (GRCm39) R170S possibly damaging Het
Gm5129 T C 5: 29,940,654 (GRCm39) probably benign Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Hspbap1 A T 16: 35,621,934 (GRCm39) Y93F possibly damaging Het
Iars2 A T 1: 185,050,765 (GRCm39) D441E probably benign Het
Il1rap A T 16: 26,541,676 (GRCm39) H639L probably damaging Het
Inhbc A T 10: 127,193,416 (GRCm39) V200E probably benign Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Intu G T 3: 40,618,765 (GRCm39) G257V probably damaging Het
Kif23 C A 9: 61,826,243 (GRCm39) A929S possibly damaging Het
Kmt2b A T 7: 30,274,083 (GRCm39) V2207E possibly damaging Het
Ksr2 A C 5: 117,643,594 (GRCm39) E121A probably benign Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Mcmdc2 T C 1: 10,001,030 (GRCm39) V435A probably damaging Het
Mecom A G 3: 30,563,577 (GRCm39) probably null Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mmp16 A T 4: 18,116,013 (GRCm39) D539V probably benign Het
Mpp1 A G X: 74,168,975 (GRCm39) probably null Het
Mpp2 C T 11: 101,955,493 (GRCm39) E86K probably benign Het
Mtor T A 4: 148,539,089 (GRCm39) F195L probably damaging Het
Nlrp5 G A 7: 23,123,407 (GRCm39) G756E possibly damaging Het
Nudt18 T C 14: 70,817,335 (GRCm39) L255P probably damaging Het
Nup62 T A 7: 44,478,472 (GRCm39) S162R possibly damaging Het
Oosp2 C T 19: 11,626,959 (GRCm39) probably null Het
Or52n20 T A 7: 104,320,524 (GRCm39) I205N possibly damaging Het
Or6c66 A T 10: 129,461,621 (GRCm39) I103K probably damaging Het
Or7g20 G A 9: 18,946,562 (GRCm39) A48T probably benign Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Pan2 A G 10: 128,149,050 (GRCm39) D506G probably damaging Het
Pcdh9 G A 14: 94,125,471 (GRCm39) S233L probably damaging Het
Pcdhgc5 T G 18: 37,954,471 (GRCm39) S582A possibly damaging Het
Pdik1l T C 4: 134,006,222 (GRCm39) D70G probably damaging Het
Peg12 T C 7: 62,113,416 (GRCm39) H227R probably benign Het
Pms1 C T 1: 53,228,546 (GRCm39) V901I probably benign Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Pole A G 5: 110,482,063 (GRCm39) E135G probably benign Het
Ppp6r2 C A 15: 89,166,141 (GRCm39) A715E probably benign Het
Prickle4 T G 17: 48,001,044 (GRCm39) H174P possibly damaging Het
Prl2a1 T C 13: 27,988,923 (GRCm39) L16P probably damaging Het
Prss32 C T 17: 24,072,868 (GRCm39) T33M probably benign Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Rbbp6 T C 7: 122,596,252 (GRCm39) V598A probably damaging Het
Rbm34 C A 8: 127,697,631 (GRCm39) A27S probably benign Het
Rbm4b A G 19: 4,812,331 (GRCm39) T247A probably benign Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Sema4f T C 6: 82,894,824 (GRCm39) D457G possibly damaging Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Serpina3a A T 12: 104,084,886 (GRCm39) I94L probably benign Het
Skida1 TTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTG 2: 18,051,155 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Sntg2 T C 12: 30,286,650 (GRCm39) N315D probably benign Het
Snx10 T A 6: 51,552,890 (GRCm39) V11E probably damaging Het
Spta1 A G 1: 174,047,405 (GRCm39) E1683G probably benign Het
Ssc5d A T 7: 4,931,506 (GRCm39) R238W probably damaging Het
Ssh1 A T 5: 114,081,512 (GRCm39) F617L probably damaging Het
Taf1 T G X: 100,606,563 (GRCm39) M1254R probably damaging Het
Tcirg1 A G 19: 3,948,835 (GRCm39) L450P probably damaging Het
Ticam1 C A 17: 56,578,718 (GRCm39) A126S probably benign Het
Tnxb T A 17: 34,890,821 (GRCm39) V388E probably damaging Het
Tomm5 A G 4: 45,107,939 (GRCm39) L32P probably damaging Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp28 T G 9: 48,920,494 (GRCm39) D240E probably benign Het
Usp34 T C 11: 23,311,593 (GRCm39) Y462H possibly damaging Het
Utp14b C A 1: 78,643,148 (GRCm39) Q349K probably damaging Het
Utp20 G T 10: 88,585,305 (GRCm39) D2586E probably benign Het
Vmn1r173 A G 7: 23,402,660 (GRCm39) I298M unknown Het
Vmn1r37 T A 6: 66,708,461 (GRCm39) I29K probably benign Het
Vmn2r23 G A 6: 123,679,874 (GRCm39) G32D probably damaging Het
Xpo7 A T 14: 70,931,431 (GRCm39) F296I probably damaging Het
Zfhx4 A G 3: 5,477,774 (GRCm39) E3463G probably damaging Het
Zfp455 G T 13: 67,355,509 (GRCm39) R194L probably benign Het
Zfp663 T C 2: 165,194,651 (GRCm39) T523A possibly damaging Het
Other mutations in Myo3a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTAATGTCAAATGCTGCCGTTC -3'
(R):5'- GATGGCGCTACTAAAAGATAAACTG -3'

Sequencing Primer
(F):5'- AAATGCTGCCGTTCCATTTAG -3'
(R):5'- ATCAGAAACATATTCAAAGGGACTC -3'
Posted On 2014-06-30