Incidental Mutation 'R0827:Myo3a'
ID 78277
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 039007-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0827 (G1)
Quality Score 208
Status Validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22448227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 1 (Y1D)
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: Y939D

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: Y939D

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 damaging
Transcript: ENSMUST00000138863
AA Change: Y1D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: Y1D

DomainStartEndE-ValueType
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 0.4245 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Dusp13b C A 14: 21,792,839 (GRCm39) V29L probably benign Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,115 (GRCm39) S31T possibly damaging Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Nek1 A G 8: 61,558,682 (GRCm39) probably benign Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Ripor2 T A 13: 24,878,169 (GRCm39) F315I probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign 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
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
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'- GCGAAGAGTATCCGATGTGAATAACCA -3'

Sequencing Primer
(F):5'- TGCCTCTACATGTTTATCATTGAATC -3'
(R):5'- GATGTGAATAACCAAGCCTTCG -3'
Posted On 2013-10-16