Incidental Mutation 'R0226:Myo3b'
ID 33897
Institutional Source Beutler Lab
Gene Symbol Myo3b
Ensembl Gene ENSMUSG00000042064
Gene Name myosin IIIB
Synonyms A430065P19Rik
MMRRC Submission 038471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0226 (G1)
Quality Score 209
Status Validated
Chromosome 2
Chromosomal Location 70039126-70429198 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70217166 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 311 (T311A)
Ref Sequence ENSEMBL: ENSMUSP00000107862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112243]
AlphaFold Q1EG27
Predicted Effect probably benign
Transcript: ENSMUST00000060208
AA Change: T339A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: T339A

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: T311A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: T311A

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
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,142,120 (GRCm38) T54K possibly damaging Het
2210408I21Rik A T 13: 77,303,425 (GRCm38) E876V possibly damaging Het
Aasdh A T 5: 76,902,002 (GRCm38) L49Q probably damaging Het
Abca8b T C 11: 109,957,018 (GRCm38) probably null Het
Ablim1 A T 19: 57,043,870 (GRCm38) L556Q probably damaging Het
Afdn A G 17: 13,899,146 (GRCm38) T1700A probably benign Het
Agl G A 3: 116,752,071 (GRCm38) R1359C probably damaging Het
Agpat3 T A 10: 78,278,029 (GRCm38) H275L possibly damaging Het
Ahcyl1 A T 3: 107,670,270 (GRCm38) C180* probably null Het
Aim2 A G 1: 173,462,333 (GRCm38) probably benign Het
Angpt1 T C 15: 42,468,235 (GRCm38) N320S probably benign Het
Ankrd52 T A 10: 128,389,858 (GRCm38) probably null Het
Ap1g1 C T 8: 109,855,062 (GRCm38) S654L probably benign Het
Bpifa1 T A 2: 154,146,057 (GRCm38) S173R probably benign Het
Brd8 T C 18: 34,603,894 (GRCm38) probably benign Het
Btbd9 C T 17: 30,274,942 (GRCm38) D492N possibly damaging Het
C1qtnf2 A G 11: 43,490,843 (GRCm38) T161A probably benign Het
Car6 T C 4: 150,187,508 (GRCm38) Y228C probably damaging Het
Ccdc149 A G 5: 52,400,217 (GRCm38) L273P probably damaging Het
Cit G A 5: 115,984,840 (GRCm38) R1405Q probably damaging Het
Cox17 T C 16: 38,349,276 (GRCm38) L48P probably damaging Het
Cttn A G 7: 144,441,852 (GRCm38) probably benign Het
Cyp4f18 T C 8: 71,989,775 (GRCm38) probably benign Het
Dtnbp1 A G 13: 44,923,193 (GRCm38) L175P probably damaging Het
Efl1 T C 7: 82,693,011 (GRCm38) probably benign Het
Fbn1 C T 2: 125,320,910 (GRCm38) R2152Q possibly damaging Het
Fignl1 A T 11: 11,801,061 (GRCm38) S665T probably benign Het
Gm884 A T 11: 103,603,241 (GRCm38) F663L probably benign Het
Gm9843 A T 16: 76,403,561 (GRCm38) noncoding transcript Het
Gpr155 C T 2: 73,367,592 (GRCm38) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm38) probably benign Het
Hdgfl1 A T 13: 26,769,996 (GRCm38) H31Q probably benign Het
Heatr1 T C 13: 12,410,562 (GRCm38) S628P probably damaging Het
Hivep2 A G 10: 14,129,712 (GRCm38) T685A probably benign Het
Hmgcl T G 4: 135,958,728 (GRCm38) V168G probably damaging Het
Itch T C 2: 155,199,394 (GRCm38) I454T probably benign Het
Itih2 T C 2: 10,115,299 (GRCm38) D309G possibly damaging Het
Kcmf1 T C 6: 72,842,952 (GRCm38) I304V probably benign Het
Kcnh1 G T 1: 192,276,805 (GRCm38) W222C probably damaging Het
Kcnh1 G A 1: 192,276,804 (GRCm38) W222* probably null Het
Kif24 T A 4: 41,414,939 (GRCm38) K287* probably null Het
Lrig3 A G 10: 125,972,117 (GRCm38) probably benign Het
Lrp2 A T 2: 69,537,563 (GRCm38) C202S probably null Het
Lrrn2 A G 1: 132,937,820 (GRCm38) N208D probably damaging Het
Mcm5 C T 8: 75,126,252 (GRCm38) T664I possibly damaging Het
Mfsd10 A G 5: 34,634,446 (GRCm38) L365S probably benign Het
Mfsd6 A G 1: 52,658,690 (GRCm38) probably benign Het
Mgat4e A G 1: 134,541,103 (GRCm38) V401A probably benign Het
Mllt3 C A 4: 87,840,732 (GRCm38) V360L probably benign Het
Mrm1 G A 11: 84,819,170 (GRCm38) A68V possibly damaging Het
Myo19 A G 11: 84,897,732 (GRCm38) probably benign Het
Myo5b T C 18: 74,742,180 (GRCm38) F1552L probably benign Het
Myo7b C T 18: 31,972,896 (GRCm38) V1353I probably benign Het
Myo9b T C 8: 71,353,832 (GRCm38) S1512P probably damaging Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Osbpl3 A G 6: 50,353,008 (GRCm38) W63R probably damaging Het
Pcdh17 T C 14: 84,448,201 (GRCm38) S703P probably damaging Het
Pclo T C 5: 14,765,223 (GRCm38) I1231T probably damaging Het
Pex16 A C 2: 92,375,687 (GRCm38) probably benign Het
Pfkl T C 10: 77,992,534 (GRCm38) N399S probably benign Het
Pkhd1l1 G A 15: 44,526,784 (GRCm38) R1432K possibly damaging Het
Prdm1 T A 10: 44,456,696 (GRCm38) T106S probably benign Het
Prrc1 A G 18: 57,363,291 (GRCm38) M105V probably benign Het
Psg26 A G 7: 18,483,958 (GRCm38) C12R possibly damaging Het
Rnf43 A T 11: 87,731,437 (GRCm38) S455C probably damaging Het
Ryr2 T C 13: 11,772,556 (GRCm38) K977R probably damaging Het
Sart1 C T 19: 5,381,122 (GRCm38) probably benign Het
Sec14l5 A G 16: 5,180,303 (GRCm38) S509G probably benign Het
Sin3b A T 8: 72,744,508 (GRCm38) E361V probably benign Het
Slc35e3 C T 10: 117,740,890 (GRCm38) E179K possibly damaging Het
Sntb2 T C 8: 107,001,583 (GRCm38) S388P probably damaging Het
Srms A G 2: 181,212,382 (GRCm38) S131P probably benign Het
Stxbp5 T C 10: 9,866,698 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Taar2 T C 10: 23,941,063 (GRCm38) V167A probably damaging Het
Thsd7a A G 6: 12,321,900 (GRCm38) Y1516H possibly damaging Het
Tlk1 T A 2: 70,714,169 (GRCm38) probably benign Het
Tmem173 A T 18: 35,739,088 (GRCm38) F120L probably benign Het
Tnfaip3 T C 10: 19,002,747 (GRCm38) K771R probably damaging Het
Treml1 C T 17: 48,360,458 (GRCm38) L124F probably damaging Het
Ttn G T 2: 76,780,797 (GRCm38) Q9137K possibly damaging Het
Unkl T A 17: 25,230,711 (GRCm38) I469N probably damaging Het
Vmn1r173 G T 7: 23,703,083 (GRCm38) V248L possibly damaging Het
Vps35 T C 8: 85,273,575 (GRCm38) Q474R probably damaging Het
Wdr17 T A 8: 54,663,008 (GRCm38) T580S probably benign Het
Xpnpep1 T C 19: 53,010,152 (GRCm38) K222E probably benign Het
Ylpm1 A G 12: 85,049,737 (GRCm38) T1446A probably benign Het
Zfp277 A G 12: 40,364,162 (GRCm38) L228S possibly damaging Het
Zfp941 T A 7: 140,813,275 (GRCm38) K57M probably damaging Het
Zmpste24 A T 4: 121,081,209 (GRCm38) S244R probably benign Het
Other mutations in Myo3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Myo3b APN 2 70,105,645 (GRCm38) splice site probably benign
IGL00959:Myo3b APN 2 70,314,292 (GRCm38) missense probably damaging 1.00
IGL01069:Myo3b APN 2 70,245,391 (GRCm38) missense probably benign 0.22
IGL01116:Myo3b APN 2 70,289,386 (GRCm38) missense probably damaging 1.00
IGL02097:Myo3b APN 2 70,238,829 (GRCm38) missense probably damaging 1.00
IGL02220:Myo3b APN 2 70,289,579 (GRCm38) splice site probably benign
IGL02553:Myo3b APN 2 70,095,224 (GRCm38) missense probably benign 0.00
IGL02557:Myo3b APN 2 70,255,319 (GRCm38) missense probably benign 0.16
IGL02648:Myo3b APN 2 70,105,372 (GRCm38) splice site probably benign
IGL02902:Myo3b APN 2 70,289,401 (GRCm38) missense probably benign 0.36
IGL02981:Myo3b APN 2 70,108,625 (GRCm38) missense probably damaging 1.00
IGL03030:Myo3b APN 2 70,426,816 (GRCm38) splice site probably benign
IGL03031:Myo3b APN 2 70,255,377 (GRCm38) missense possibly damaging 0.64
IGL03068:Myo3b APN 2 70,426,816 (GRCm38) splice site probably benign
IGL03078:Myo3b APN 2 70,286,991 (GRCm38) missense probably damaging 1.00
IGL03224:Myo3b APN 2 70,349,939 (GRCm38) missense probably benign
IGL03329:Myo3b APN 2 70,254,459 (GRCm38) missense probably damaging 1.00
R0079:Myo3b UTSW 2 70,095,158 (GRCm38) missense possibly damaging 0.58
R0238:Myo3b UTSW 2 70,105,425 (GRCm38) missense probably benign 0.00
R0238:Myo3b UTSW 2 70,105,425 (GRCm38) missense probably benign 0.00
R0239:Myo3b UTSW 2 70,105,425 (GRCm38) missense probably benign 0.00
R0239:Myo3b UTSW 2 70,105,425 (GRCm38) missense probably benign 0.00
R0313:Myo3b UTSW 2 70,348,959 (GRCm38) nonsense probably null
R0331:Myo3b UTSW 2 70,095,261 (GRCm38) missense probably damaging 1.00
R0371:Myo3b UTSW 2 70,252,960 (GRCm38) splice site probably benign
R0442:Myo3b UTSW 2 70,238,961 (GRCm38) critical splice donor site probably null
R0964:Myo3b UTSW 2 70,426,849 (GRCm38) missense probably damaging 1.00
R1217:Myo3b UTSW 2 70,330,880 (GRCm38) missense probably benign 0.02
R1429:Myo3b UTSW 2 70,253,007 (GRCm38) missense probably damaging 0.97
R1460:Myo3b UTSW 2 70,232,454 (GRCm38) missense probably benign 0.31
R1617:Myo3b UTSW 2 70,281,218 (GRCm38) missense probably benign 0.00
R1628:Myo3b UTSW 2 70,286,962 (GRCm38) missense probably benign 0.01
R1708:Myo3b UTSW 2 70,245,385 (GRCm38) nonsense probably null
R1940:Myo3b UTSW 2 70,258,075 (GRCm38) missense probably benign 0.01
R2407:Myo3b UTSW 2 70,255,253 (GRCm38) missense probably damaging 1.00
R3081:Myo3b UTSW 2 70,256,583 (GRCm38) splice site probably benign
R3687:Myo3b UTSW 2 70,245,314 (GRCm38) missense probably benign
R3745:Myo3b UTSW 2 70,234,485 (GRCm38) splice site probably benign
R4011:Myo3b UTSW 2 70,096,376 (GRCm38) missense probably benign 0.15
R4074:Myo3b UTSW 2 70,289,464 (GRCm38) missense probably damaging 1.00
R4419:Myo3b UTSW 2 70,096,362 (GRCm38) missense probably damaging 1.00
R4496:Myo3b UTSW 2 70,254,404 (GRCm38) missense probably benign
R4539:Myo3b UTSW 2 70,039,147 (GRCm38) start codon destroyed probably null 0.00
R4643:Myo3b UTSW 2 70,238,842 (GRCm38) missense possibly damaging 0.49
R4657:Myo3b UTSW 2 70,238,899 (GRCm38) missense possibly damaging 0.95
R4807:Myo3b UTSW 2 70,105,712 (GRCm38) missense probably damaging 1.00
R4849:Myo3b UTSW 2 70,244,909 (GRCm38) missense probably damaging 0.98
R4997:Myo3b UTSW 2 70,258,083 (GRCm38) missense possibly damaging 0.49
R5008:Myo3b UTSW 2 70,258,068 (GRCm38) missense probably damaging 0.99
R5070:Myo3b UTSW 2 70,253,112 (GRCm38) missense probably damaging 1.00
R5072:Myo3b UTSW 2 70,095,249 (GRCm38) missense possibly damaging 0.96
R5082:Myo3b UTSW 2 70,258,030 (GRCm38) missense probably benign 0.01
R5103:Myo3b UTSW 2 70,096,403 (GRCm38) missense probably benign 0.08
R5109:Myo3b UTSW 2 70,095,293 (GRCm38) missense possibly damaging 0.66
R5304:Myo3b UTSW 2 70,426,888 (GRCm38) missense probably damaging 0.97
R5396:Myo3b UTSW 2 70,126,985 (GRCm38) missense probably damaging 0.99
R5400:Myo3b UTSW 2 70,105,380 (GRCm38) missense probably damaging 1.00
R5468:Myo3b UTSW 2 70,234,441 (GRCm38) missense probably benign 0.00
R5620:Myo3b UTSW 2 70,238,910 (GRCm38) missense probably benign 0.04
R5646:Myo3b UTSW 2 70,314,430 (GRCm38) missense probably damaging 0.97
R5729:Myo3b UTSW 2 70,105,739 (GRCm38) missense probably damaging 1.00
R5943:Myo3b UTSW 2 70,286,941 (GRCm38) missense probably benign 0.03
R5971:Myo3b UTSW 2 70,238,899 (GRCm38) missense possibly damaging 0.95
R6091:Myo3b UTSW 2 70,238,769 (GRCm38) missense probably benign 0.00
R6138:Myo3b UTSW 2 70,238,899 (GRCm38) missense possibly damaging 0.95
R6164:Myo3b UTSW 2 70,245,410 (GRCm38) critical splice donor site probably null
R6177:Myo3b UTSW 2 70,313,363 (GRCm38) missense probably benign 0.00
R6421:Myo3b UTSW 2 70,313,356 (GRCm38) missense probably benign 0.02
R6478:Myo3b UTSW 2 70,348,960 (GRCm38) missense probably benign
R6606:Myo3b UTSW 2 70,232,485 (GRCm38) missense possibly damaging 0.94
R6752:Myo3b UTSW 2 70,289,512 (GRCm38) missense probably damaging 1.00
R6982:Myo3b UTSW 2 70,426,065 (GRCm38) missense probably benign 0.02
R6997:Myo3b UTSW 2 70,126,985 (GRCm38) missense probably damaging 0.99
R7032:Myo3b UTSW 2 70,095,264 (GRCm38) missense probably damaging 0.98
R7038:Myo3b UTSW 2 70,095,208 (GRCm38) missense probably benign 0.00
R7062:Myo3b UTSW 2 70,217,157 (GRCm38) missense probably benign 0.00
R7537:Myo3b UTSW 2 70,217,169 (GRCm38) missense probably benign 0.01
R7861:Myo3b UTSW 2 70,108,688 (GRCm38) missense probably damaging 1.00
R7955:Myo3b UTSW 2 70,095,279 (GRCm38) missense probably benign 0.37
R7977:Myo3b UTSW 2 70,330,933 (GRCm38) missense probably benign
R7978:Myo3b UTSW 2 70,253,114 (GRCm38) missense probably damaging 1.00
R7987:Myo3b UTSW 2 70,330,933 (GRCm38) missense probably benign
R8803:Myo3b UTSW 2 70,252,994 (GRCm38) missense probably benign
R8843:Myo3b UTSW 2 70,257,981 (GRCm38) missense probably damaging 1.00
R8896:Myo3b UTSW 2 70,238,816 (GRCm38) missense probably damaging 1.00
R8904:Myo3b UTSW 2 70,426,908 (GRCm38) missense probably benign 0.07
R8909:Myo3b UTSW 2 70,253,096 (GRCm38) missense probably damaging 1.00
R9031:Myo3b UTSW 2 70,251,750 (GRCm38) missense probably damaging 0.99
R9052:Myo3b UTSW 2 70,232,403 (GRCm38) missense probably benign 0.00
R9251:Myo3b UTSW 2 70,258,081 (GRCm38) nonsense probably null
R9268:Myo3b UTSW 2 70,426,961 (GRCm38) makesense probably null
R9334:Myo3b UTSW 2 70,217,016 (GRCm38) missense probably damaging 1.00
R9377:Myo3b UTSW 2 70,238,898 (GRCm38) missense possibly damaging 0.78
R9457:Myo3b UTSW 2 70,095,209 (GRCm38) missense probably benign 0.01
R9520:Myo3b UTSW 2 70,232,409 (GRCm38) missense possibly damaging 0.67
R9593:Myo3b UTSW 2 70,245,304 (GRCm38) missense probably benign 0.43
R9671:Myo3b UTSW 2 70,256,564 (GRCm38) missense probably damaging 1.00
R9790:Myo3b UTSW 2 70,349,943 (GRCm38) missense probably benign 0.35
R9791:Myo3b UTSW 2 70,349,943 (GRCm38) missense probably benign 0.35
U15987:Myo3b UTSW 2 70,238,899 (GRCm38) missense possibly damaging 0.95
X0025:Myo3b UTSW 2 70,232,403 (GRCm38) missense probably benign 0.00
X0065:Myo3b UTSW 2 70,257,969 (GRCm38) missense probably damaging 1.00
Z1177:Myo3b UTSW 2 70,258,027 (GRCm38) missense probably benign 0.01
Z1177:Myo3b UTSW 2 70,096,361 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGGGACAGAGAGTGTCTAATG -3'
(R):5'- CACAGGGGTCTGAATAGGCAGTTTG -3'

Sequencing Primer
(F):5'- CATCTCTTGGACCACCCATT -3'
(R):5'- GAATAGGCAGTTTGTTTCTGAATCC -3'
Posted On 2013-05-09