Incidental Mutation 'R8926:Myo3a'
ID 679519
Institutional Source Beutler Lab
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Name myosin IIIA
Synonyms 9030416P08Rik
MMRRC Submission 068770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8926 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22232314-22508264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22401074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 614 (N614K)
Ref Sequence ENSEMBL: ENSMUSP00000046329 (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: N614K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: N614K

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: ENSMUST00000153002
AA Change: N606K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120573
Gene: ENSMUSG00000025716
AA Change: N606K

DomainStartEndE-ValueType
S_TKc 21 287 1.62e-91 SMART
MYSc 332 753 3.06e-35 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,405,446 (GRCm39) D296V possibly damaging Het
Ahi1 T C 10: 20,930,982 (GRCm39) Y941H probably damaging Het
Bscl2 T C 19: 8,825,348 (GRCm39) probably null Het
C1s1 C T 6: 124,510,325 (GRCm39) G374D probably damaging Het
C1s1 T C 6: 124,513,322 (GRCm39) D235G possibly damaging Het
Cacna1e C T 1: 154,577,080 (GRCm39) V106I possibly damaging Het
Ccdc97 G A 7: 25,412,494 (GRCm39) A316V probably benign Het
Ces1a A G 8: 93,751,841 (GRCm39) V431A probably benign Het
Cftr C T 6: 18,268,003 (GRCm39) S684L possibly damaging Het
Cgnl1 T A 9: 71,632,535 (GRCm39) N272I probably benign Het
Csf2rb C T 15: 78,224,749 (GRCm39) S169L probably benign Het
Cux1 T A 5: 136,338,404 (GRCm39) probably benign Het
Cyp11b1 T A 15: 74,711,087 (GRCm39) Y197F probably benign Het
Cyp1a2 T C 9: 57,588,361 (GRCm39) K288E probably benign Het
Dapk1 T A 13: 60,908,734 (GRCm39) W1116R probably damaging Het
Dclre1c A T 2: 3,434,827 (GRCm39) D97V probably damaging Het
Efcc1 A G 6: 87,726,169 (GRCm39) R323G probably benign Het
Epha6 T A 16: 59,659,662 (GRCm39) I819F probably benign Het
Fam118b A T 9: 35,146,732 (GRCm39) L45Q probably damaging Het
Fcgbpl1 G A 7: 27,853,869 (GRCm39) C1611Y probably damaging Het
Fsd1l T G 4: 53,686,493 (GRCm39) I302S probably benign Het
Fsip2 T A 2: 82,823,927 (GRCm39) D6553E possibly damaging Het
Gje1 C T 10: 14,592,435 (GRCm39) V116I probably benign Het
H2-T9 T A 17: 36,420,626 (GRCm39) probably null Het
Helz C A 11: 107,563,509 (GRCm39) H1650N unknown Het
Hltf T G 3: 20,123,323 (GRCm39) probably null Het
Intu T A 3: 40,608,139 (GRCm39) D50E possibly damaging Het
Ipo9 C T 1: 135,313,952 (GRCm39) probably benign Het
Lama5 G A 2: 179,835,783 (GRCm39) T1217I probably benign Het
Lct T A 1: 128,228,148 (GRCm39) Y1115F probably damaging Het
Lpgat1 T C 1: 191,492,120 (GRCm39) L202P probably damaging Het
Lrp1 C T 10: 127,381,671 (GRCm39) R3801H probably benign Het
Mtfmt T A 9: 65,344,414 (GRCm39) Y113* probably null Het
Myh7 A G 14: 55,222,533 (GRCm39) F801L probably benign Het
Myl4 G T 11: 104,476,572 (GRCm39) M191I probably benign Het
Naa30 A G 14: 49,425,059 (GRCm39) N337S probably benign Het
Nol10 C A 12: 17,466,871 (GRCm39) Q584K probably benign Het
Nup210 C A 6: 91,030,434 (GRCm39) G919C probably damaging Het
Or13a20 G A 7: 140,232,113 (GRCm39) V74M probably benign Het
Or5p57 G A 7: 107,665,513 (GRCm39) T134I probably benign Het
Pdcd6ip T A 9: 113,514,493 (GRCm39) Q244L probably benign Het
Pde4d T C 13: 110,074,625 (GRCm39) V410A probably benign Het
Plekha7 A T 7: 115,756,223 (GRCm39) probably benign Het
Plpp4 A T 7: 128,923,211 (GRCm39) probably null Het
Poln T C 5: 34,286,769 (GRCm39) N133S probably benign Het
Ppfibp1 A G 6: 146,920,986 (GRCm39) N575D probably damaging Het
Prex2 T A 1: 11,159,930 (GRCm39) probably null Het
Prkar2b A G 12: 32,111,080 (GRCm39) M1T probably null Het
Ptcd3 A G 6: 71,869,464 (GRCm39) F378S probably damaging Het
Rab27b C A 18: 70,129,144 (GRCm39) R50L probably damaging Het
Rpl7a T G 2: 26,801,557 (GRCm39) F83C probably damaging Het
Slc8a2 A G 7: 15,868,194 (GRCm39) E142G probably damaging Het
Slc9a4 A T 1: 40,619,928 (GRCm39) I85L possibly damaging Het
Sorcs1 C A 19: 50,241,096 (GRCm39) W430L possibly damaging Het
Spaca6 T A 17: 18,058,790 (GRCm39) probably null Het
Synrg C A 11: 83,881,567 (GRCm39) A301E possibly damaging Het
Tcl1 G A 12: 105,184,969 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,153,780 (GRCm39) V158M probably damaging Het
Tex2 T G 11: 106,459,230 (GRCm39) T67P Het
Tlr9 A T 9: 106,103,213 (GRCm39) I835L probably benign Het
Tmem185b G C 1: 119,454,406 (GRCm39) V56L probably benign Het
Tssk2 C T 16: 17,717,562 (GRCm39) R322W probably benign Het
Ttn T A 2: 76,571,735 (GRCm39) Y26386F probably benign Het
Txndc16 C A 14: 45,406,771 (GRCm39) R228I possibly damaging Het
Uspl1 T G 5: 149,138,701 (GRCm39) probably null Het
Vmn1r113 A T 7: 20,521,874 (GRCm39) H222L possibly damaging Het
Vnn1 T G 10: 23,776,587 (GRCm39) S313A probably benign Het
Zc3hc1 A T 6: 30,374,887 (GRCm39) L218Q possibly damaging Het
Znrf1 T G 8: 112,264,143 (GRCm39) L124R probably damaging Het
Zzz3 A T 3: 152,133,529 (GRCm39) N196Y 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
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
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'- ACATAAATCCTTTCCTGCTTGGG -3'
(R):5'- AGCTGAGCATGCTTTGTAGACTC -3'

Sequencing Primer
(F):5'- AAATCCTTTCCTGCTTGGGTCTTAG -3'
(R):5'- AGCATGCTTTGTAGACTCTTTATG -3'
Posted On 2021-08-02