Incidental Mutation 'R6520:Myo3a'
ID 521067
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 # R6520 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22404737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 690 (I690L)
Ref Sequence ENSEMBL: ENSMUSP00000120573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000153002]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044749
AA Change: I698L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: I698L

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 possibly damaging
Transcript: ENSMUST00000153002
AA Change: I690L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: I690L

DomainStartEndE-ValueType
S_TKc 21 287 1.62e-91 SMART
MYSc 332 753 3.06e-35 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,285 (GRCm39) D116G possibly damaging Het
Adam22 C T 5: 8,166,635 (GRCm39) V699M probably damaging Het
Adh7 A G 3: 137,929,771 (GRCm39) Y149C probably damaging Het
Adissp G T 2: 130,989,174 (GRCm39) H111N probably damaging Het
Angptl3 A C 4: 98,926,085 (GRCm39) N405T probably benign Het
Ank3 A G 10: 69,824,217 (GRCm39) H180R probably damaging Het
Apob T A 12: 8,033,124 (GRCm39) I159N probably damaging Het
Arhgap24 T C 5: 103,028,659 (GRCm39) V185A probably benign Het
Atf6 A T 1: 170,695,238 (GRCm39) H11Q probably benign Het
Atxn3 C A 12: 101,900,660 (GRCm39) D208Y probably damaging Het
Brd9 G A 13: 74,090,913 (GRCm39) R273K probably benign Het
Cbfa2t3 T A 8: 123,362,540 (GRCm39) R302W probably benign Het
Ccdc175 C A 12: 72,186,804 (GRCm39) G347C probably damaging Het
Ccdc87 A G 19: 4,891,817 (GRCm39) K770E probably damaging Het
Ccl17 T C 8: 95,537,178 (GRCm39) F27L probably benign Het
Cd3g A T 9: 44,882,613 (GRCm39) probably null Het
Cep350 A G 1: 155,809,082 (GRCm39) V498A probably benign Het
Cfap45 A G 1: 172,368,151 (GRCm39) D381G probably damaging Het
Cfap46 A G 7: 139,194,321 (GRCm39) probably null Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Col23a1 T C 11: 51,440,552 (GRCm39) probably null Het
Col4a1 C T 8: 11,269,152 (GRCm39) G933S probably damaging Het
Col5a3 C T 9: 20,685,348 (GRCm39) V1443I unknown Het
Col6a6 T C 9: 105,663,024 (GRCm39) E171G possibly damaging Het
Dennd1a A T 2: 37,851,759 (GRCm39) probably null Het
Dlk2 C T 17: 46,613,438 (GRCm39) T188I probably damaging Het
Dusp8 A G 7: 141,637,418 (GRCm39) I203T probably damaging Het
Eno2 C T 6: 124,744,678 (GRCm39) R56H probably damaging Het
Erich3 A T 3: 154,469,102 (GRCm39) T1185S probably damaging Het
Evi5l A T 8: 4,255,906 (GRCm39) Q575L possibly damaging Het
Fam187a T A 11: 102,776,701 (GRCm39) H168Q possibly damaging Het
Fat2 T A 11: 55,175,814 (GRCm39) E1633V probably damaging Het
Fbln2 G A 6: 91,236,641 (GRCm39) D719N probably damaging Het
Fbn2 A T 18: 58,235,462 (GRCm39) S672T probably damaging Het
Gas8 C G 8: 124,253,213 (GRCm39) A187G probably benign Het
Gm2696 G A 10: 77,672,332 (GRCm39) probably benign Het
Gnl1 A T 17: 36,293,845 (GRCm39) K272M probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hemgn T G 4: 46,396,466 (GRCm39) K257Q probably damaging Het
Hgsnat T C 8: 26,443,328 (GRCm39) Y474C probably damaging Het
Hoxc4 T C 15: 102,943,380 (GRCm39) S78P probably benign Het
Igkv14-100 T A 6: 68,496,218 (GRCm39) L37Q probably damaging Het
Iqck A T 7: 118,540,854 (GRCm39) K251M probably damaging Het
Itgal A T 7: 126,929,503 (GRCm39) Q1140L probably benign Het
Itpka A G 2: 119,581,259 (GRCm39) R431G probably benign Het
Jade1 A G 3: 41,558,917 (GRCm39) N333D possibly damaging Het
Jmjd7 A G 2: 119,861,800 (GRCm39) H181R probably damaging Het
Jmy A G 13: 93,590,547 (GRCm39) S519P probably benign Het
Klra10 T A 6: 130,252,755 (GRCm39) H173L probably benign Het
Krt72 T G 15: 101,689,481 (GRCm39) I284L probably benign Het
Krt78 C A 15: 101,860,206 (GRCm39) V237F probably benign Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Mcmbp A C 7: 128,314,451 (GRCm39) V255G possibly damaging Het
Mcoln1 T G 8: 3,555,855 (GRCm39) M50R probably damaging Het
Mocos T A 18: 24,799,447 (GRCm39) V227E probably benign Het
Mpeg1 A G 19: 12,439,322 (GRCm39) E260G probably benign Het
Mrc1 A T 2: 14,312,760 (GRCm39) N894I probably damaging Het
Mroh7 A G 4: 106,578,460 (GRCm39) S73P probably benign Het
Naa50 T G 16: 43,979,872 (GRCm39) F87V probably damaging Het
Ndufs6 G T 13: 73,476,471 (GRCm39) T32K probably damaging Het
Nfe2l2 A G 2: 75,506,912 (GRCm39) V396A probably benign Het
Nptn A G 9: 58,551,017 (GRCm39) E348G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Or56b1b A G 7: 108,164,046 (GRCm39) *319Q probably null Het
Or8d6 T C 9: 39,853,658 (GRCm39) I34T possibly damaging Het
Or8k36-ps1 A G 2: 86,437,462 (GRCm39) L151P unknown Het
Plekha7 A G 7: 115,763,717 (GRCm39) V233A probably benign Het
Polq C A 16: 36,880,739 (GRCm39) Q968K possibly damaging Het
Prmt7 C T 8: 106,961,516 (GRCm39) T143M probably damaging Het
Ptprc G A 1: 138,007,881 (GRCm39) Q886* probably null Het
Rbp7 C A 4: 149,537,371 (GRCm39) V36L possibly damaging Het
Rev3l A T 10: 39,698,698 (GRCm39) N1065I probably benign Het
Scamp5 A T 9: 57,354,489 (GRCm39) probably null Het
Sec16a A G 2: 26,316,118 (GRCm39) S1698P probably damaging Het
Spr C A 6: 85,114,474 (GRCm39) R85L probably benign Het
Sptlc2 A C 12: 87,402,436 (GRCm39) N163K probably benign Het
Stk10 C T 11: 32,538,839 (GRCm39) T226M probably damaging Het
Sv2c A G 13: 96,123,229 (GRCm39) Y415H probably benign Het
Tet1 A G 10: 62,715,792 (GRCm39) M1T probably null Het
Tnnt1 T A 7: 4,512,060 (GRCm39) K150* probably null Het
Trappc10 C T 10: 78,037,287 (GRCm39) V839M probably benign Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Upk2 T C 9: 44,364,803 (GRCm39) E132G probably damaging Het
Vmn2r117 A T 17: 23,679,193 (GRCm39) V677D probably damaging Het
Vps13a A T 19: 16,702,943 (GRCm39) L670H probably damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp512 G A 5: 31,623,984 (GRCm39) R67H probably damaging Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zzef1 C A 11: 72,716,891 (GRCm39) N360K 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
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
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'- ATGTCAAATGCTGCCGTTCC -3'
(R):5'- GTGATGGCGCTACTAAAAGATAAAC -3'

Sequencing Primer
(F):5'- AAATGCTGCCGTTCCATTTAG -3'
(R):5'- CCAAAACAGATACATTGCCT -3'
Posted On 2018-06-06