Incidental Mutation 'R1917:Myo3a'
ID 212581
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22296733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 242 (H242Q)
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: H242Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: H242Q

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: H234Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: H234Q

DomainStartEndE-ValueType
S_TKc 21 287 1.62e-91 SMART
MYSc 332 753 3.06e-35 SMART
Meta Mutation Damage Score 0.6276 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,341 (GRCm39) probably benign Het
Adgre5 A G 8: 84,455,738 (GRCm39) V190A probably damaging Het
Akap6 A G 12: 53,151,395 (GRCm39) N1153S probably benign Het
Aldh1a7 G A 19: 20,704,819 (GRCm39) H20Y probably benign Het
B430306N03Rik A G 17: 48,631,176 (GRCm39) E278G probably benign Het
Cacna1b C A 2: 24,506,891 (GRCm39) R72L probably null Het
Cc2d2a C G 5: 43,863,564 (GRCm39) S675R probably damaging Het
Ccdc88b T A 19: 6,826,594 (GRCm39) E1040D probably damaging Het
Cmtm7 A G 9: 114,592,432 (GRCm39) V55A probably damaging Het
Coq4 A C 2: 29,679,938 (GRCm39) T77P probably damaging Het
Cyp2j11 C A 4: 96,228,211 (GRCm39) W136L probably damaging Het
Dctn2 T A 10: 127,110,918 (GRCm39) Y86* probably null Het
Ddx56 A G 11: 6,213,937 (GRCm39) probably null Het
Dop1b T C 16: 93,513,150 (GRCm39) S30P probably damaging Het
Ep400 T C 5: 110,851,441 (GRCm39) K1347R unknown Het
Fat3 T A 9: 15,908,353 (GRCm39) T2550S possibly damaging Het
Fcrla G T 1: 170,755,095 (GRCm39) C5* probably null Het
Fem1al A G 11: 29,774,039 (GRCm39) S473P probably benign Het
Fermt1 T A 2: 132,764,762 (GRCm39) D365V probably damaging Het
Fhod3 A G 18: 25,123,022 (GRCm39) probably benign Het
Fhod3 A G 18: 25,218,658 (GRCm39) D807G probably benign Het
Fnip1 C T 11: 54,371,510 (GRCm39) T177I probably damaging Het
Gart T C 16: 91,425,037 (GRCm39) Y662C probably damaging Het
Gda A T 19: 21,375,004 (GRCm39) probably benign Het
Gk A G X: 84,804,186 (GRCm39) I85T probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,607,684 (GRCm39) C2R unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gtf2h4 G A 17: 35,981,090 (GRCm39) L246F possibly damaging Het
Hao1 A T 2: 134,364,980 (GRCm39) S216T probably benign Het
Hnrnpr C A 4: 136,059,799 (GRCm39) S301* probably null Het
Hsd3b2 A G 3: 98,619,342 (GRCm39) I201T probably benign Het
Jade2 T C 11: 51,709,365 (GRCm39) E548G possibly damaging Het
Katnbl1 T C 2: 112,239,524 (GRCm39) I241T probably benign Het
Keap1 G T 9: 21,145,102 (GRCm39) Q299K probably benign Het
Kif1a T C 1: 92,946,753 (GRCm39) I1650V possibly damaging Het
Lrba G A 3: 86,571,808 (GRCm39) G275R probably damaging Het
Map3k9 C A 12: 81,827,564 (GRCm39) E29* probably null Het
Mat1a G A 14: 40,843,394 (GRCm39) V307I probably damaging Het
Mcm2 A T 6: 88,868,785 (GRCm39) M324K possibly damaging Het
Metap1d T C 2: 71,341,871 (GRCm39) V155A probably damaging Het
Mtbp A G 15: 55,428,073 (GRCm39) probably benign Het
Myh14 T C 7: 44,307,349 (GRCm39) T231A probably benign Het
Mylk4 A T 13: 32,908,836 (GRCm39) D90E probably benign Het
Myo15b T A 11: 115,773,080 (GRCm39) I1837K possibly damaging Het
Nxn A G 11: 76,152,498 (GRCm39) probably benign Het
Or6c2 T A 10: 129,362,918 (GRCm39) V274D probably damaging Het
Pak3 C A X: 142,574,298 (GRCm39) A553E possibly damaging Het
Pdia2 T A 17: 26,417,079 (GRCm39) T122S possibly damaging Het
Pira12 C T 7: 3,900,637 (GRCm39) V38M probably damaging Het
Plod2 A G 9: 92,463,310 (GRCm39) T132A probably benign Het
Ptprz1 T A 6: 23,035,039 (GRCm39) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm39) N416T probably damaging Het
Recql4 A T 15: 76,588,037 (GRCm39) Y1142* probably null Het
Rnf216 A G 5: 142,978,561 (GRCm39) V859A probably benign Het
Scnm1 G T 3: 95,037,584 (GRCm39) P161T possibly damaging Het
Serpinb6b A G 13: 33,162,223 (GRCm39) I222V probably benign Het
Serpinf1 A G 11: 75,301,833 (GRCm39) I274T possibly damaging Het
Slc28a1 T C 7: 80,819,334 (GRCm39) F641L probably benign Het
Slc8a2 A G 7: 15,886,845 (GRCm39) I657V probably benign Het
Smchd1 A G 17: 71,714,232 (GRCm39) I877T possibly damaging Het
Spata31 T C 13: 65,068,679 (GRCm39) Y276H possibly damaging Het
Spire2 A G 8: 124,089,810 (GRCm39) D447G probably benign Het
Stk3 G A 15: 35,073,363 (GRCm39) T119I probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Sult2a5 T C 7: 13,404,609 (GRCm39) F282S probably damaging Het
Syk A T 13: 52,776,744 (GRCm39) D248V probably damaging Het
Thoc6 C T 17: 23,888,364 (GRCm39) probably benign Het
Timd5 A G 11: 46,419,358 (GRCm39) D58G possibly damaging Het
Tll2 T A 19: 41,116,936 (GRCm39) D293V possibly damaging Het
Umodl1 G A 17: 31,203,017 (GRCm39) V457M probably damaging Het
Usp19 T A 9: 108,376,524 (GRCm39) C689* probably null Het
Usp24 T G 4: 106,267,483 (GRCm39) V1955G probably damaging Het
Vmn1r226 T C 17: 20,907,842 (GRCm39) S25P probably damaging Het
Vmn2r69 C T 7: 85,060,891 (GRCm39) C231Y probably damaging Het
Wdr73 C T 7: 80,543,081 (GRCm39) D176N probably benign Het
Wnt7b T A 15: 85,443,281 (GRCm39) I41F probably damaging Het
Zfhx3 T C 8: 109,682,880 (GRCm39) S3440P unknown Het
Zfp52 T G 17: 21,780,426 (GRCm39) N91K probably benign Het
Zfp930 C A 8: 69,681,357 (GRCm39) Q350K probably benign Het
Zfp949 T C 9: 88,452,115 (GRCm39) S562P probably 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
R1867:Myo3a UTSW 2 22,404,657 (GRCm39) missense probably benign 0.00
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'- GCAATCCTGCTGTGGTATTGTC -3'
(R):5'- TCAGATGGCCAGTTGAAGG -3'

Sequencing Primer
(F):5'- GCTCTCAACTTTATCAGGTTAAACAC -3'
(R):5'- TGAAGCAGGCAGATCATCTTC -3'
Posted On 2014-07-14