Incidental Mutation 'R1712:Myo3a'
ID 190642
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 039745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22455004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 70 (Y70H)
Ref Sequence ENSEMBL: ENSMUSP00000116185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000138863]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044749
AA Change: Y1008H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: Y1008H

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: Y70H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: Y70H

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Col17a1 T C 19: 47,637,442 (GRCm39) probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Gjd3 A G 11: 102,691,706 (GRCm39) I99T possibly damaging Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn4a A G 11: 106,230,180 (GRCm39) Y543H probably damaging Het
Scn4a C A 11: 106,236,373 (GRCm39) G296C probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A 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
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
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'- CCCGTGATTTAAAGTCAAACTCAGCTTG -3'
(R):5'- GTTATTTACTGCCAGTGCCATTGGGA -3'

Sequencing Primer
(F):5'- gtcaaactcagcttgaaccc -3'
(R):5'- cattgtgggcagtgtcattc -3'
Posted On 2014-05-14