Incidental Mutation 'R0008:Myo3a'
ID 58186
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0008 (G1)
Quality Score 181
Status Validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22469753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 508 (I508N)
Ref Sequence ENSEMBL: ENSMUSP00000116185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000138863]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044749
AA Change: I1446N

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: I1446N

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: I508N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: I508N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149423
Meta Mutation Damage Score 0.1337 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (109/111)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Adtrp T C 13: 41,920,941 (GRCm39) T88A probably damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Apoe G A 7: 19,431,005 (GRCm39) T79M probably damaging Het
Arrdc3 T A 13: 81,032,011 (GRCm39) Y81* probably null Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Asah2 T A 19: 31,981,131 (GRCm39) K629* probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
C130074G19Rik A G 1: 184,615,119 (GRCm39) S24P probably benign Het
C87436 A G 6: 86,423,265 (GRCm39) probably benign Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Clcn2 T C 16: 20,529,140 (GRCm39) N367S probably null Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Commd6 G A 14: 101,877,709 (GRCm39) probably benign Het
Cox6a2 G A 7: 127,805,212 (GRCm39) probably benign Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Eng T C 2: 32,567,692 (GRCm39) V110A probably damaging Het
Esyt3 T C 9: 99,220,860 (GRCm39) I114M possibly damaging Het
Fam83h A T 15: 75,875,811 (GRCm39) Y509N probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Fbxo21 A G 5: 118,146,078 (GRCm39) N567S possibly damaging Het
Fcsk T C 8: 111,610,865 (GRCm39) probably benign Het
Fn1 A T 1: 71,634,879 (GRCm39) L1964Q probably damaging Het
Gorasp1 G T 9: 119,757,312 (GRCm39) S353R possibly damaging Het
Grk2 C T 19: 4,337,262 (GRCm39) E646K probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Igf2bp2 T C 16: 21,894,841 (GRCm39) T301A probably benign Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Kdm2b G A 5: 123,019,806 (GRCm39) S738L probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mapk15 G A 15: 75,870,103 (GRCm39) E408K probably benign Het
Mdn1 T A 4: 32,718,317 (GRCm39) F2191I possibly damaging Het
Metrn C A 17: 26,015,479 (GRCm39) V79F possibly damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Ncapg2 T C 12: 116,393,455 (GRCm39) F553S probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Or2d3b A G 7: 106,514,226 (GRCm39) I274V probably benign Het
Or2t6 T A 14: 14,176,092 (GRCm38) probably benign Het
Or4a78 T A 2: 89,497,428 (GRCm39) K267N probably damaging Het
Or52e3 A T 7: 102,869,558 (GRCm39) D211V probably damaging Het
Or52e3 G A 7: 102,869,584 (GRCm39) A220T probably benign Het
Or5b122 A G 19: 13,563,240 (GRCm39) I191V probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdlim4 C T 11: 53,945,875 (GRCm39) V327M probably damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prdm1 C T 10: 44,317,675 (GRCm39) E398K probably damaging Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Prkdc T A 16: 15,526,565 (GRCm39) probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Ptk7 G A 17: 46,883,688 (GRCm39) probably benign Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Rnf213 A C 11: 119,355,878 (GRCm39) E4108A possibly damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Sec24d C A 3: 123,144,525 (GRCm39) probably benign Het
Sh2d3c C G 2: 32,643,033 (GRCm39) H587D probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Slc46a2 T A 4: 59,914,544 (GRCm39) L126F probably damaging Het
Slc4a8 T C 15: 100,698,374 (GRCm39) M621T possibly damaging Het
Slc9b2 T A 3: 135,042,269 (GRCm39) V516D possibly damaging Het
Slco1a6 T A 6: 142,102,948 (GRCm39) probably benign Het
Sncg C T 14: 34,096,495 (GRCm39) V15I probably benign Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Stk10 T A 11: 32,537,305 (GRCm39) probably benign Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp1 C T 12: 99,921,217 (GRCm39) probably benign Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tgfbi T A 13: 56,777,587 (GRCm39) I357N probably benign Het
Tmem116 A G 5: 121,633,159 (GRCm39) T178A probably damaging Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Top2a A T 11: 98,893,729 (GRCm39) L1055* probably null Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Trpv2 A G 11: 62,481,086 (GRCm39) Y395C probably damaging Het
Ubn2 T A 6: 38,411,535 (GRCm39) probably null Het
Ubr4 C T 4: 139,157,487 (GRCm39) T2348M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r33 C A 6: 66,589,510 (GRCm39) G15* probably null Het
Vmn1r37 T A 6: 66,708,769 (GRCm39) S95T probably benign Het
Vmn2r57 A G 7: 41,050,076 (GRCm39) C558R probably damaging Het
Vnn1 T C 10: 23,774,500 (GRCm39) probably null Het
Vps13c T C 9: 67,826,544 (GRCm39) V1395A probably benign Het
Vwa7 A G 17: 35,238,781 (GRCm39) I290V probably benign Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfp942 A T 17: 22,147,319 (GRCm39) C437S probably damaging Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V 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
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
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'- CCATAAGTGCCAATGCCCGATCTC -3'
(R):5'- GGTAGACCATTGCCTCAAGTCACAG -3'

Sequencing Primer
(F):5'- ATCCCCAGGAATTCAAGGGTTTG -3'
(R):5'- ATCTAAGACACCAAGAGTTTGGC -3'
Posted On 2013-07-11