Incidental Mutation 'IGL02902:Myo3b'
ID363625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo3b
Ensembl Gene ENSMUSG00000042064
Gene Namemyosin IIIB
SynonymsA430065P19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02902
Quality Score
Status
Chromosome2
Chromosomal Location70039126-70429198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70289401 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 935 (V935E)
Ref Sequence ENSEMBL: ENSMUSP00000107862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112243]
Predicted Effect probably benign
Transcript: ENSMUST00000060208
AA Change: V963E

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: V963E

DomainStartEndE-ValueType
S_TKc 43 309 2.24e-85 SMART
MYSc 353 1075 6.61e-260 SMART
IQ 1075 1097 9.51e1 SMART
IQ 1102 1124 1.73e-5 SMART
low complexity region 1319 1324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112243
AA Change: V935E

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: V935E

DomainStartEndE-ValueType
S_TKc 15 281 2.24e-85 SMART
MYSc 325 1047 6.61e-260 SMART
IQ 1047 1069 9.51e1 SMART
IQ 1074 1096 1.73e-5 SMART
low complexity region 1291 1296 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 86,046,365 V135F possibly damaging Het
Aatk T C 11: 120,011,777 T541A probably benign Het
Abcc1 T C 16: 14,423,127 L516P probably damaging Het
Actl6a T A 3: 32,722,642 V350E possibly damaging Het
Afm A G 5: 90,526,363 K245E possibly damaging Het
Agr3 T C 12: 35,946,916 V63A probably damaging Het
Arhgef28 A T 13: 97,946,875 M1162K probably damaging Het
BC003331 C A 1: 150,384,428 probably null Het
Casq2 T A 3: 102,086,797 C53* probably null Het
Ccdc181 T C 1: 164,279,901 V51A probably benign Het
Cd101 A G 3: 101,018,994 probably benign Het
Csdc2 T C 15: 81,948,600 V69A probably benign Het
Cyp2c23 A T 19: 44,021,558 probably benign Het
Dnph1 A G 17: 46,498,501 probably benign Het
Egf T C 3: 129,681,147 T1124A probably benign Het
Gm13089 A G 4: 143,698,343 C177R probably damaging Het
Gpr45 A G 1: 43,033,211 E338G possibly damaging Het
Grb14 A C 2: 64,938,418 L98R probably damaging Het
Gucy1a1 T C 3: 82,118,917 S77G possibly damaging Het
Helb A G 10: 120,089,485 S996P probably benign Het
Huwe1 A G X: 151,886,766 E1405G probably damaging Het
Ifi47 T C 11: 49,095,790 I128T probably benign Het
Ift140 T A 17: 25,090,762 Y1089N probably damaging Het
Il1r1 A T 1: 40,302,409 H324L probably benign Het
Irx1 C T 13: 71,959,855 R236H probably benign Het
Itpr3 T C 17: 27,104,556 V1185A probably benign Het
Kif19a T C 11: 114,785,570 V450A possibly damaging Het
Krtap21-1 G T 16: 89,403,558 Y65* probably null Het
Ltn1 A T 16: 87,379,805 N1704K possibly damaging Het
Med1 T C 11: 98,156,509 probably benign Het
Meis2 T A 2: 116,063,323 H36L probably damaging Het
Mier2 T C 10: 79,549,622 N124S probably damaging Het
Mmp20 A G 9: 7,654,170 probably null Het
Muc4 A G 16: 32,750,394 T91A possibly damaging Het
Ndufa7 T C 17: 33,829,658 probably benign Het
Nipal1 A G 5: 72,668,062 E366G possibly damaging Het
Nobox A T 6: 43,305,683 N263K probably benign Het
Notch2 A G 3: 98,111,574 D684G probably damaging Het
Olfr1136 T C 2: 87,693,000 N294S probably damaging Het
Olfr1255 T A 2: 89,817,164 Y273* probably null Het
Olfr303 T C 7: 86,394,535 probably benign Het
Olfr31 A G 14: 14,328,789 H226R probably benign Het
Olfr494 C A 7: 108,368,129 T213K probably damaging Het
Plau A C 14: 20,839,897 D270A possibly damaging Het
Pof1b T C X: 112,649,112 probably null Het
Prtn3 A T 10: 79,881,933 probably null Het
Ptges3 T A 10: 128,068,747 D26E probably benign Het
Pxmp2 T C 5: 110,281,294 E99G probably benign Het
Rasgef1a A G 6: 118,083,107 R106G probably benign Het
Rnf208 T C 2: 25,243,762 V156A probably benign Het
Rps6ka1 A T 4: 133,871,981 I45N possibly damaging Het
Rps6ka4 C T 19: 6,832,255 probably null Het
Rsbn1 G T 3: 103,953,656 C466F possibly damaging Het
Shkbp1 A T 7: 27,342,716 C605S probably damaging Het
Slc2a10 G A 2: 165,518,222 D531N probably benign Het
Sox13 A G 1: 133,389,466 L143P probably damaging Het
Stx2 C T 5: 128,992,221 R142Q probably damaging Het
Tanc1 T A 2: 59,793,087 probably benign Het
Ttc26 A C 6: 38,425,162 S530R probably benign Het
Tubgcp5 C T 7: 55,806,607 Q316* probably null Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unc5d G A 8: 28,875,606 T117I probably damaging Het
Vmn2r4 T C 3: 64,406,916 I126V probably benign Het
Zfp410 T A 12: 84,331,820 probably null Het
Other mutations in Myo3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Myo3b APN 2 70105645 splice site probably benign
IGL00959:Myo3b APN 2 70314292 missense probably damaging 1.00
IGL01069:Myo3b APN 2 70245391 missense probably benign 0.22
IGL01116:Myo3b APN 2 70289386 missense probably damaging 1.00
IGL02097:Myo3b APN 2 70238829 missense probably damaging 1.00
IGL02220:Myo3b APN 2 70289579 splice site probably benign
IGL02553:Myo3b APN 2 70095224 missense probably benign 0.00
IGL02557:Myo3b APN 2 70255319 missense probably benign 0.16
IGL02648:Myo3b APN 2 70105372 splice site probably benign
IGL02981:Myo3b APN 2 70108625 missense probably damaging 1.00
IGL03030:Myo3b APN 2 70426816 splice site probably benign
IGL03031:Myo3b APN 2 70255377 missense possibly damaging 0.64
IGL03068:Myo3b APN 2 70426816 splice site probably benign
IGL03078:Myo3b APN 2 70286991 missense probably damaging 1.00
IGL03224:Myo3b APN 2 70349939 missense probably benign
IGL03329:Myo3b APN 2 70254459 missense probably damaging 1.00
R0079:Myo3b UTSW 2 70095158 missense possibly damaging 0.58
R0226:Myo3b UTSW 2 70217166 missense probably benign 0.00
R0238:Myo3b UTSW 2 70105425 missense probably benign 0.00
R0238:Myo3b UTSW 2 70105425 missense probably benign 0.00
R0239:Myo3b UTSW 2 70105425 missense probably benign 0.00
R0239:Myo3b UTSW 2 70105425 missense probably benign 0.00
R0313:Myo3b UTSW 2 70348959 nonsense probably null
R0331:Myo3b UTSW 2 70095261 missense probably damaging 1.00
R0371:Myo3b UTSW 2 70252960 splice site probably benign
R0442:Myo3b UTSW 2 70238961 critical splice donor site probably null
R0964:Myo3b UTSW 2 70426849 missense probably damaging 1.00
R1217:Myo3b UTSW 2 70330880 missense probably benign 0.02
R1429:Myo3b UTSW 2 70253007 missense probably damaging 0.97
R1460:Myo3b UTSW 2 70232454 missense probably benign 0.31
R1617:Myo3b UTSW 2 70281218 missense probably benign 0.00
R1628:Myo3b UTSW 2 70286962 missense probably benign 0.01
R1708:Myo3b UTSW 2 70245385 nonsense probably null
R1940:Myo3b UTSW 2 70258075 missense probably benign 0.01
R2407:Myo3b UTSW 2 70255253 missense probably damaging 1.00
R3081:Myo3b UTSW 2 70256583 splice site probably benign
R3687:Myo3b UTSW 2 70245314 missense probably benign
R3745:Myo3b UTSW 2 70234485 splice site probably benign
R4011:Myo3b UTSW 2 70096376 missense probably benign 0.15
R4074:Myo3b UTSW 2 70289464 missense probably damaging 1.00
R4419:Myo3b UTSW 2 70096362 missense probably damaging 1.00
R4496:Myo3b UTSW 2 70254404 missense probably benign
R4539:Myo3b UTSW 2 70039147 start codon destroyed probably null 0.00
R4643:Myo3b UTSW 2 70238842 missense possibly damaging 0.49
R4657:Myo3b UTSW 2 70238899 missense possibly damaging 0.95
R4807:Myo3b UTSW 2 70105712 missense probably damaging 1.00
R4849:Myo3b UTSW 2 70244909 missense probably damaging 0.98
R4997:Myo3b UTSW 2 70258083 missense possibly damaging 0.49
R5008:Myo3b UTSW 2 70258068 missense probably damaging 0.99
R5070:Myo3b UTSW 2 70253112 missense probably damaging 1.00
R5072:Myo3b UTSW 2 70095249 missense possibly damaging 0.96
R5082:Myo3b UTSW 2 70258030 missense probably benign 0.01
R5103:Myo3b UTSW 2 70096403 missense probably benign 0.08
R5109:Myo3b UTSW 2 70095293 missense possibly damaging 0.66
R5304:Myo3b UTSW 2 70426888 missense probably damaging 0.97
R5396:Myo3b UTSW 2 70126985 missense probably damaging 0.99
R5400:Myo3b UTSW 2 70105380 missense probably damaging 1.00
R5468:Myo3b UTSW 2 70234441 missense probably benign 0.00
R5620:Myo3b UTSW 2 70238910 missense probably benign 0.04
R5646:Myo3b UTSW 2 70314430 missense probably damaging 0.97
R5729:Myo3b UTSW 2 70105739 missense probably damaging 1.00
R5943:Myo3b UTSW 2 70286941 missense probably benign 0.03
R5971:Myo3b UTSW 2 70238899 missense possibly damaging 0.95
R6091:Myo3b UTSW 2 70238769 missense probably benign 0.00
R6138:Myo3b UTSW 2 70238899 missense possibly damaging 0.95
R6164:Myo3b UTSW 2 70245410 critical splice donor site probably null
R6177:Myo3b UTSW 2 70313363 missense probably benign 0.00
R6421:Myo3b UTSW 2 70313356 missense probably benign 0.02
R6478:Myo3b UTSW 2 70348960 missense probably benign
R6606:Myo3b UTSW 2 70232485 missense possibly damaging 0.94
R6752:Myo3b UTSW 2 70289512 missense probably damaging 1.00
R6982:Myo3b UTSW 2 70426065 missense probably benign 0.02
R6997:Myo3b UTSW 2 70126985 missense probably damaging 0.99
R7032:Myo3b UTSW 2 70095264 missense probably damaging 0.98
R7038:Myo3b UTSW 2 70095208 missense probably benign 0.00
R7062:Myo3b UTSW 2 70217157 missense probably benign 0.00
R7537:Myo3b UTSW 2 70217169 missense probably benign 0.01
R7861:Myo3b UTSW 2 70108688 missense probably damaging 1.00
R7955:Myo3b UTSW 2 70095279 missense probably benign 0.37
R7977:Myo3b UTSW 2 70330933 missense probably benign
R7978:Myo3b UTSW 2 70253114 missense probably damaging 1.00
R7987:Myo3b UTSW 2 70330933 missense probably benign
U15987:Myo3b UTSW 2 70238899 missense possibly damaging 0.95
X0025:Myo3b UTSW 2 70232403 missense probably benign 0.00
X0065:Myo3b UTSW 2 70257969 missense probably damaging 1.00
Z1177:Myo3b UTSW 2 70096361 missense probably damaging 1.00
Z1177:Myo3b UTSW 2 70258027 missense probably benign 0.01
Posted On2015-12-18