Incidental Mutation 'IGL03328:Myo3a'
ID416758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo3a
Ensembl Gene ENSMUSG00000025716
Gene Namemyosin IIIA
Synonyms9030416P08Rik
Accession Numbers

Genbank: NM_148413; MGI: 2183924

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03328
Quality Score
Status
Chromosome2
Chromosomal Location22227503-22618252 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22578198 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1426 (E1426G)
Ref Sequence ENSEMBL: ENSMUSP00000046329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044749] [ENSMUST00000138863]
Predicted Effect probably benign
Transcript: ENSMUST00000044749
AA Change: E1426G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046329
Gene: ENSMUSG00000025716
AA Change: E1426G

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 benign
Transcript: ENSMUST00000138863
AA Change: E488G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116185
Gene: ENSMUSG00000025716
AA Change: E488G

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
Coding Region Coverage
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 Y185F possibly damaging Het
Acaca A T 11: 84,320,529 M1556L probably benign Het
Aicda T G 6: 122,562,437 D187E probably benign Het
Arfgap3 A C 15: 83,343,081 F43L probably damaging Het
AW551984 T C 9: 39,597,116 E368G probably damaging Het
Bbs4 T C 9: 59,344,118 E33G probably damaging Het
Bcas1 T A 2: 170,366,396 K437* probably null Het
Brwd1 A T 16: 96,002,725 W2082R probably damaging Het
Card6 A T 15: 5,105,445 probably benign Het
Cd200r4 A G 16: 44,833,519 I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 E73G probably damaging Het
Chaf1a T G 17: 56,063,374 F613C probably damaging Het
Clybl G T 14: 122,401,994 K323N probably damaging Het
Coa7 A G 4: 108,338,282 D136G probably damaging Het
Col5a2 C A 1: 45,376,146 V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 probably benign Het
Cyp4f17 T G 17: 32,520,626 M174R probably damaging Het
Dnah10 A T 5: 124,754,290 D794V probably benign Het
Eapp A G 12: 54,692,093 S87P probably benign Het
Efnb3 A G 11: 69,557,205 I137T probably damaging Het
Eif4e T A 3: 138,553,727 probably benign Het
Fam83b T A 9: 76,493,042 I260L probably benign Het
Fras1 A G 5: 96,781,760 T4008A probably damaging Het
Fut8 A T 12: 77,365,229 R118W probably damaging Het
Glt1d1 A C 5: 127,657,119 D119A probably benign Het
Gm3727 T A 14: 7,261,685 *206C probably null Het
Gmip G A 8: 69,811,611 V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 probably null Het
Haao C T 17: 83,846,649 C23Y probably damaging Het
Hip1 A T 5: 135,424,874 V400E probably damaging Het
Keg1 A G 19: 12,719,097 N215S probably damaging Het
Lss T G 10: 76,540,951 I334S probably damaging Het
Lyn A C 4: 3,745,327 E77D probably benign Het
Ncapg2 A G 12: 116,440,057 E863G possibly damaging Het
Ncl T C 1: 86,352,597 Y496C probably damaging Het
Nefm A T 14: 68,121,290 S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 E913* probably null Het
Nup205 T C 6: 35,232,414 L1552P probably damaging Het
Olfr1217 G T 2: 89,023,855 Y49* probably null Het
Olfr1356 C T 10: 78,847,367 E183K probably benign Het
Olfr325 A G 11: 58,581,713 N290D probably damaging Het
Olfr652 T A 7: 104,564,470 V83D probably damaging Het
Osm A C 11: 4,238,426 I18L unknown Het
Otoa T A 7: 121,110,994 S254R probably damaging Het
Parp1 T C 1: 180,599,590 probably benign Het
Pcdh17 A G 14: 84,533,111 I1010V probably benign Het
Peli2 A T 14: 48,252,575 probably null Het
Pkd1l3 T G 8: 109,662,106 probably benign Het
Pkhd1 A G 1: 20,081,300 probably benign Het
Polg2 A C 11: 106,768,337 V450G probably benign Het
Ptpn13 A T 5: 103,516,348 T401S probably benign Het
Rgs22 C T 15: 36,043,204 probably null Het
Rttn T G 18: 89,043,028 S1107A probably benign Het
Scn5a G T 9: 119,537,636 N328K probably benign Het
Sned1 G A 1: 93,289,367 A1325T probably benign Het
St8sia4 T A 1: 95,660,870 E80V probably benign Het
Stard7 T C 2: 127,292,256 probably benign Het
Suco G T 1: 161,820,421 P1099T probably damaging Het
Syn2 G T 6: 115,274,260 C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 Y158C unknown Het
Tomm70a T C 16: 57,144,787 C445R probably damaging Het
Tpsab1 T A 17: 25,345,128 D87V probably benign Het
Trpm6 A T 19: 18,838,082 E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 T293S probably damaging Het
Other mutations in Myo3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Myo3a APN 2 22332473 missense probably benign 0.42
IGL01307:Myo3a APN 2 22558289 missense probably damaging 1.00
IGL01413:Myo3a APN 2 22297600 missense probably benign 0.25
IGL01655:Myo3a APN 2 22423326 missense probably damaging 1.00
IGL01767:Myo3a APN 2 22423222 missense probably damaging 0.96
IGL01803:Myo3a APN 2 22241115 missense probably damaging 1.00
IGL01969:Myo3a APN 2 22297688 missense probably benign 0.03
IGL02043:Myo3a APN 2 22399965 missense probably benign 0.01
IGL02124:Myo3a APN 2 22577526 missense probably benign 0.01
IGL02174:Myo3a APN 2 22332393 missense probably benign 0.04
IGL02649:Myo3a APN 2 22323607 missense probably benign
IGL02976:Myo3a APN 2 22542452 nonsense probably null
IGL03376:Myo3a APN 2 22600074 splice site probably benign
lose UTSW 2 22558320 nonsense probably null
snooze UTSW 2 22282634 missense probably damaging 0.99
A5278:Myo3a UTSW 2 22323653 missense probably benign 0.27
PIT4445001:Myo3a UTSW 2 22542415 missense possibly damaging 0.64
R0008:Myo3a UTSW 2 22579741 missense probably damaging 0.99
R0099:Myo3a UTSW 2 22245598 missense probably benign 0.03
R0103:Myo3a UTSW 2 22544322 splice site probably benign
R0103:Myo3a UTSW 2 22544322 splice site probably benign
R0212:Myo3a UTSW 2 22291848 missense probably damaging 1.00
R0281:Myo3a UTSW 2 22245598 missense probably benign 0.03
R0282:Myo3a UTSW 2 22245598 missense probably benign 0.03
R0492:Myo3a UTSW 2 22323636 missense possibly damaging 0.46
R0498:Myo3a UTSW 2 22577429 missense possibly damaging 0.74
R0594:Myo3a UTSW 2 22544332 splice site probably benign
R0609:Myo3a UTSW 2 22333513 missense probably benign 0.29
R0609:Myo3a UTSW 2 22396299 missense possibly damaging 0.95
R0827:Myo3a UTSW 2 22558215 missense probably damaging 1.00
R0968:Myo3a UTSW 2 22558289 missense probably damaging 1.00
R1157:Myo3a UTSW 2 22542414 critical splice acceptor site probably null
R1301:Myo3a UTSW 2 22267095 splice site probably benign
R1352:Myo3a UTSW 2 22323675 critical splice donor site probably null
R1443:Myo3a UTSW 2 22282626 missense probably damaging 0.99
R1465:Myo3a UTSW 2 22577927 missense probably benign 0.00
R1465:Myo3a UTSW 2 22577927 missense probably benign 0.00
R1517:Myo3a UTSW 2 22282634 missense probably damaging 0.99
R1565:Myo3a UTSW 2 22340280 missense probably damaging 1.00
R1712:Myo3a UTSW 2 22564992 missense probably damaging 1.00
R1722:Myo3a UTSW 2 22399827 missense probably benign 0.03
R1822:Myo3a UTSW 2 22340280 missense probably damaging 1.00
R1823:Myo3a UTSW 2 22340280 missense probably damaging 1.00
R1824:Myo3a UTSW 2 22396243 missense probably benign
R1837:Myo3a UTSW 2 22577592 missense possibly damaging 0.76
R1867:Myo3a UTSW 2 22399846 missense probably benign 0.00
R1917:Myo3a UTSW 2 22291922 missense probably damaging 1.00
R1920:Myo3a UTSW 2 22564996 missense probably benign 0.02
R1937:Myo3a UTSW 2 22396315 missense probably damaging 1.00
R1954:Myo3a UTSW 2 22241226 missense probably damaging 1.00
R1988:Myo3a UTSW 2 22578128 missense possibly damaging 0.86
R2091:Myo3a UTSW 2 22333677 missense probably damaging 0.99
R2115:Myo3a UTSW 2 22245531 missense probably damaging 1.00
R2125:Myo3a UTSW 2 22578174 missense probably benign 0.42
R2126:Myo3a UTSW 2 22578174 missense probably benign 0.42
R2216:Myo3a UTSW 2 22577771 missense probably benign 0.00
R2413:Myo3a UTSW 2 22577912 missense probably benign 0.00
R2964:Myo3a UTSW 2 22340256 missense possibly damaging 0.90
R3196:Myo3a UTSW 2 22399868 missense possibly damaging 0.86
R3837:Myo3a UTSW 2 22565109 splice site probably benign
R3905:Myo3a UTSW 2 22558215 missense probably damaging 1.00
R3926:Myo3a UTSW 2 22565041 missense probably damaging 0.99
R4014:Myo3a UTSW 2 22578170 missense possibly damaging 0.76
R4015:Myo3a UTSW 2 22578170 missense possibly damaging 0.76
R4017:Myo3a UTSW 2 22578170 missense possibly damaging 0.76
R4043:Myo3a UTSW 2 22333539 splice site probably benign
R4044:Myo3a UTSW 2 22577700 missense probably damaging 0.99
R4057:Myo3a UTSW 2 22266160 missense probably benign 0.01
R4192:Myo3a UTSW 2 22407377 missense probably damaging 1.00
R4282:Myo3a UTSW 2 22340278 missense probably benign 0.14
R4321:Myo3a UTSW 2 22267155 missense probably damaging 1.00
R4393:Myo3a UTSW 2 22577854 missense probably damaging 0.99
R4398:Myo3a UTSW 2 22577842 missense probably benign
R4446:Myo3a UTSW 2 22600137 missense probably damaging 1.00
R4685:Myo3a UTSW 2 22407422 missense probably damaging 1.00
R5032:Myo3a UTSW 2 22282602 missense probably damaging 1.00
R5096:Myo3a UTSW 2 22574242 missense probably benign 0.16
R5183:Myo3a UTSW 2 22578158 missense probably benign 0.05
R5458:Myo3a UTSW 2 22245550 missense probably damaging 1.00
R5502:Myo3a UTSW 2 22558369 missense probably damaging 1.00
R5522:Myo3a UTSW 2 22574341 missense probably damaging 1.00
R6462:Myo3a UTSW 2 22558411 missense probably damaging 1.00
R6479:Myo3a UTSW 2 22577865 missense probably benign 0.00
R6513:Myo3a UTSW 2 22407332 missense probably damaging 1.00
R6520:Myo3a UTSW 2 22399926 missense possibly damaging 0.90
R6602:Myo3a UTSW 2 22577787 missense probably damaging 0.96
R6671:Myo3a UTSW 2 22294522 missense probably damaging 1.00
R6743:Myo3a UTSW 2 22361664 missense probably benign 0.24
R6865:Myo3a UTSW 2 22574301 missense probably benign 0.00
R6961:Myo3a UTSW 2 22245558 missense probably benign 0.00
R7001:Myo3a UTSW 2 22332377 missense probably benign 0.04
R7215:Myo3a UTSW 2 22245567 missense possibly damaging 0.78
R7301:Myo3a UTSW 2 22544466 critical splice donor site probably null
R7318:Myo3a UTSW 2 22558320 nonsense probably null
R7447:Myo3a UTSW 2 22544426 missense probably benign 0.27
R7456:Myo3a UTSW 2 22407444 missense probably benign 0.08
R7528:Myo3a UTSW 2 22266114 nonsense probably null
R7731:Myo3a UTSW 2 22282589 missense probably damaging 1.00
R7768:Myo3a UTSW 2 22241143 missense probably damaging 0.99
R8054:Myo3a UTSW 2 22574317 missense probably benign 0.00
R8140:Myo3a UTSW 2 22407346 missense probably damaging 1.00
R8143:Myo3a UTSW 2 22282665 critical splice donor site probably null
R8346:Myo3a UTSW 2 22558422 critical splice donor site probably null
R8421:Myo3a UTSW 2 22362124 missense probably benign 0.07
Z1177:Myo3a UTSW 2 22618140 missense possibly damaging 0.58
Posted On2016-08-02