Incidental Mutation 'R0212:Myo3a'
ID 33508
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 038463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0212 (G1)
Quality Score 186
Status Not validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22296659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 210 (R210G)
Ref Sequence ENSEMBL: ENSMUSP00000120573 (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: R218G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: R218G

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 noncoding transcript
Transcript: ENSMUST00000142435
Predicted Effect probably damaging
Transcript: ENSMUST00000153002
AA Change: R210G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: R210G

DomainStartEndE-ValueType
S_TKc 21 287 1.62e-91 SMART
MYSc 332 753 3.06e-35 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,006,254 (GRCm39) probably null Het
Adat1 T A 8: 112,713,840 (GRCm39) D113V possibly damaging Het
Arhgap40 T G 2: 158,392,495 (GRCm39) L656V probably damaging Het
Atg2a T C 19: 6,296,584 (GRCm39) I330T probably damaging Het
Cad A G 5: 31,235,454 (GRCm39) D2137G probably damaging Het
Cd8a G A 6: 71,350,633 (GRCm39) E33K probably benign Het
Cemip C A 7: 83,622,398 (GRCm39) G594C probably damaging Het
Chd6 T A 2: 160,894,767 (GRCm39) D31V probably damaging Het
Cmpk1 A T 4: 114,822,216 (GRCm39) M111K possibly damaging Het
Crispld2 T G 8: 120,737,370 (GRCm39) H40Q probably benign Het
Depdc5 A G 5: 33,069,586 (GRCm39) T441A probably benign Het
Dpm1 T C 2: 168,069,414 (GRCm39) N5S probably benign Het
Ercc4 A G 16: 12,941,196 (GRCm39) probably null Het
Fam83f A T 15: 80,574,779 (GRCm39) M229L probably benign Het
Fgd5 A T 6: 91,965,189 (GRCm39) D474V probably damaging Het
Fgf21 G T 7: 45,263,526 (GRCm39) P184Q probably benign Het
Fry A T 5: 150,419,862 (GRCm39) D1008V probably damaging Het
Gjd2 T C 2: 113,841,953 (GRCm39) T175A probably benign Het
Gphn C T 12: 78,684,326 (GRCm39) T577I probably damaging Het
Ifi207 A T 1: 173,563,964 (GRCm39) N18K possibly damaging Het
Ifne T C 4: 88,797,972 (GRCm39) R149G possibly damaging Het
Ift80 A T 3: 68,847,506 (GRCm39) L330H probably benign Het
Inpp4b A T 8: 82,497,546 (GRCm39) H122L probably benign Het
Inpp5e T C 2: 26,298,352 (GRCm39) probably null Het
Ism1 T C 2: 139,582,177 (GRCm39) L163S probably benign Het
Itga11 T A 9: 62,653,251 (GRCm39) V375E probably benign Het
Itpr3 T G 17: 27,308,293 (GRCm39) F306V probably damaging Het
Kif19a A T 11: 114,675,736 (GRCm39) I403F possibly damaging Het
Klf12 A T 14: 100,260,298 (GRCm39) S144T probably benign Het
Lyst C T 13: 13,810,570 (GRCm39) H747Y possibly damaging Het
Mccc2 A G 13: 100,091,163 (GRCm39) Y445H probably benign Het
Mei1 G A 15: 81,980,132 (GRCm39) probably null Het
Metap2 T A 10: 93,697,242 (GRCm39) K479N probably damaging Het
Mief2 A T 11: 60,621,493 (GRCm39) D62V probably damaging Het
Mtrf1 A G 14: 79,656,719 (GRCm39) D407G probably benign Het
Nkx2-2 T C 2: 147,026,090 (GRCm39) H216R probably damaging Het
Nos1 A G 5: 118,048,277 (GRCm39) E694G possibly damaging Het
Nptn A T 9: 58,535,164 (GRCm39) Y103F probably benign Het
Nrxn1 A G 17: 90,670,186 (GRCm39) probably benign Het
Numbl T C 7: 26,980,184 (GRCm39) S389P probably damaging Het
Or10d5 A G 9: 39,861,236 (GRCm39) V277A probably benign Het
Or1q1 T A 2: 36,887,644 (GRCm39) V274E possibly damaging Het
Or1q1 A T 2: 36,887,335 (GRCm39) D171V probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5d16 A G 2: 87,773,435 (GRCm39) F179S probably damaging Het
Or5i1 C T 2: 87,613,826 (GRCm39) P314L unknown Het
Or8g20 C A 9: 39,396,384 (GRCm39) S55I probably damaging Het
Osm T G 11: 4,188,465 (GRCm39) S31A probably benign Het
Paqr4 T C 17: 23,957,294 (GRCm39) M70V probably benign Het
Pikfyve T A 1: 65,302,064 (GRCm39) Y1607N probably benign Het
Plec A C 15: 76,075,505 (GRCm39) Y402* probably null Het
Polq A G 16: 36,887,216 (GRCm39) K1631E probably damaging Het
Pou6f1 A G 15: 100,478,696 (GRCm39) V129A possibly damaging Het
Prm2 A G 16: 10,609,463 (GRCm39) probably benign Het
Prtn3 A G 10: 79,716,971 (GRCm39) Y112C probably damaging Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rps6ka5 A T 12: 100,519,428 (GRCm39) probably null Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Slc10a1 A C 12: 81,014,486 (GRCm39) L78R possibly damaging Het
Slc26a5 A T 5: 22,028,547 (GRCm39) Y340* probably null Het
Sptbn2 T C 19: 4,796,970 (GRCm39) probably null Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Tmem131l A T 3: 83,820,575 (GRCm39) S1226T probably benign Het
Togaram2 C T 17: 72,031,978 (GRCm39) L866F probably damaging Het
Txndc17 A G 11: 72,098,558 (GRCm39) T37A probably benign Het
Vmn2r105 C A 17: 20,428,827 (GRCm39) V750F possibly damaging Het
Vmn2r54 T A 7: 12,366,424 (GRCm39) Y170F probably benign Het
Wrnip1 T C 13: 33,005,889 (GRCm39) V577A probably benign Het
Zc3h7b A G 15: 81,660,529 (GRCm39) T226A probably benign Het
Zfp948 T C 17: 21,808,422 (GRCm39) I538T probably benign Het
Zzef1 A G 11: 72,764,736 (GRCm39) E1401G 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
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
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'- TGATCCCATTCCAAGTAGGGCAACA -3'
(R):5'- CTGAAGTAGTGCAGTTGGCAGGTAA -3'

Sequencing Primer
(F):5'- TAGCAAAACTTCTGTCTGCAATCC -3'
(R):5'- acatctataagcccacaaaggac -3'
Posted On 2013-05-09