Incidental Mutation 'R4807:Myo3b'
ID 370726
Institutional Source Beutler Lab
Gene Symbol Myo3b
Ensembl Gene ENSMUSG00000042064
Gene Name myosin IIIB
Synonyms A430065P19Rik
MMRRC Submission 042426-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4807 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 69869470-70259542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69936056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 99 (I99N)
Ref Sequence ENSEMBL: ENSMUSP00000107860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112241] [ENSMUST00000112243]
AlphaFold Q1EG27
Predicted Effect probably damaging
Transcript: ENSMUST00000060208
AA Change: I178N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: I178N

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 damaging
Transcript: ENSMUST00000112241
AA Change: I99N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064
AA Change: I99N

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 187 3.7e-30 PFAM
Pfam:Pkinase 1 188 8.3e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112243
AA Change: I150N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: I150N

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 0.8990 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (86/88)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,139,832 (GRCm39) A1499V probably damaging Het
Agap3 T A 5: 24,682,114 (GRCm39) D386E probably damaging Het
Ahdc1 C A 4: 132,791,624 (GRCm39) T955K possibly damaging Het
Ankrd9 A G 12: 110,943,669 (GRCm39) Y122H probably benign Het
Apc2 G T 10: 80,150,196 (GRCm39) R1721L probably benign Het
Arfgef3 A G 10: 18,522,385 (GRCm39) V547A probably benign Het
Arhgap42 T C 9: 9,046,629 (GRCm39) N203D possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Aspm T A 1: 139,405,657 (GRCm39) F1515I probably damaging Het
Baz1a T C 12: 54,945,267 (GRCm39) T1363A probably benign Het
Cacng3 C T 7: 122,353,732 (GRCm39) A72V probably benign Het
Casp8ap2 T C 4: 32,644,505 (GRCm39) C1193R possibly damaging Het
Ccr3 A G 9: 123,829,334 (GRCm39) Y223C probably damaging Het
Clcn3 C A 8: 61,387,564 (GRCm39) L201F probably damaging Het
Cltc A C 11: 86,591,902 (GRCm39) probably benign Het
Cyp19a1 G T 9: 54,083,930 (GRCm39) T86K possibly damaging Het
Ddx24 A T 12: 103,385,720 (GRCm39) F248L probably damaging Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dync2h1 T C 9: 7,139,422 (GRCm39) I1404M probably benign Het
Emilin2 A T 17: 71,580,443 (GRCm39) V761E probably damaging Het
Endou C T 15: 97,629,113 (GRCm39) C13Y probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Fbxo33 C A 12: 59,265,998 (GRCm39) D90Y probably damaging Het
Fryl A G 5: 73,198,705 (GRCm39) F2641L probably benign Het
Gbp2b A G 3: 142,304,006 (GRCm39) I34V probably benign Het
Ghdc T C 11: 100,661,051 (GRCm39) H38R probably damaging Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr63 A C 4: 25,007,446 (GRCm39) M57L probably benign Het
Gprc5c A G 11: 114,755,324 (GRCm39) S3G probably damaging Het
Grk4 A T 5: 34,909,552 (GRCm39) M539L probably benign Het
Gulo C T 14: 66,227,833 (GRCm39) M366I probably benign Het
Heatr5a T C 12: 51,924,303 (GRCm39) H1970R probably damaging Het
Hmbox1 T C 14: 65,062,998 (GRCm39) probably benign Het
Ighg2b T C 12: 113,267,965 (GRCm39) probably benign Het
Il1b A T 2: 129,212,226 (GRCm39) C9S probably benign Het
Itpkb A T 1: 180,162,440 (GRCm39) probably benign Het
Kcnn1 T A 8: 71,300,822 (GRCm39) H473L probably damaging Het
Kidins220 C T 12: 25,107,284 (GRCm39) S1579L probably damaging Het
Kif1b A T 4: 149,332,378 (GRCm39) probably benign Het
Lyg2 A T 1: 37,950,148 (GRCm39) M60K possibly damaging Het
Mak16 G T 8: 31,656,161 (GRCm39) H107Q probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mastl A G 2: 23,022,855 (GRCm39) S623P probably benign Het
Mccc1 T C 3: 36,039,195 (GRCm39) Y46C probably damaging Het
Mdn1 T G 4: 32,685,651 (GRCm39) probably null Het
Med25 T A 7: 44,534,043 (GRCm39) T31S probably benign Het
Mprip G A 11: 59,648,846 (GRCm39) G850D probably benign Het
Mrpl10 T C 11: 96,932,449 (GRCm39) I8T probably benign Het
Msr1 T C 8: 40,095,668 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,640 (GRCm39) N332K probably damaging Het
Npc1l1 T C 11: 6,168,723 (GRCm39) Y886C probably damaging Het
Nsmaf T C 4: 6,398,542 (GRCm39) probably null Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or5d47 T A 2: 87,804,095 (GRCm39) I305L probably benign Het
Plppr2 A G 9: 21,855,810 (GRCm39) N261S probably damaging Het
Prkar2a T A 9: 108,617,584 (GRCm39) probably benign Het
Pxk G A 14: 8,144,133 (GRCm38) V294M probably damaging Het
Rars1 A G 11: 35,699,973 (GRCm39) F608L possibly damaging Het
Rasa3 A G 8: 13,664,633 (GRCm39) F60L probably damaging Het
Rbm47 C T 5: 66,176,647 (GRCm39) A490T possibly damaging Het
Sardh T C 2: 27,079,539 (GRCm39) I918V probably benign Het
Saxo5 A G 8: 3,529,004 (GRCm39) K193R possibly damaging Het
Sdhc T C 1: 170,963,626 (GRCm39) Y80C probably damaging Het
Selp T A 1: 163,971,505 (GRCm39) M653K probably damaging Het
Slc6a17 T C 3: 107,407,803 (GRCm39) D56G possibly damaging Het
Slco1b2 T C 6: 141,615,195 (GRCm39) S367P probably damaging Het
Spry4 TTGAGGTCC T 18: 38,723,328 (GRCm39) probably null Het
Strip2 T A 6: 29,925,092 (GRCm39) Y143* probably null Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tex30 C A 1: 44,126,118 (GRCm39) V204L possibly damaging Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tmeff2 A C 1: 51,018,546 (GRCm39) N176T probably benign Het
Togaram2 C G 17: 72,004,918 (GRCm39) T324R probably damaging Het
Trpc3 C T 3: 36,688,531 (GRCm39) R836Q probably benign Het
Trpm7 A C 2: 126,673,149 (GRCm39) L535V probably benign Het
Vmn1r213 G A 13: 23,195,775 (GRCm39) W119* probably null Het
Vps29 T G 5: 122,500,951 (GRCm39) V176G probably damaging Het
Vsig10l A G 7: 43,113,173 (GRCm39) T144A possibly damaging Het
Wdr11 T C 7: 129,229,746 (GRCm39) Y844H probably benign Het
Zbp1 A T 2: 173,053,999 (GRCm39) M174K probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp638 G A 6: 83,920,040 (GRCm39) R546H probably damaging Het
Zfp820 A T 17: 22,042,853 (GRCm39) M1K probably null Het
Other mutations in Myo3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Myo3b APN 2 69,935,989 (GRCm39) splice site probably benign
IGL00959:Myo3b APN 2 70,144,636 (GRCm39) missense probably damaging 1.00
IGL01069:Myo3b APN 2 70,075,735 (GRCm39) missense probably benign 0.22
IGL01116:Myo3b APN 2 70,119,730 (GRCm39) missense probably damaging 1.00
IGL02097:Myo3b APN 2 70,069,173 (GRCm39) missense probably damaging 1.00
IGL02220:Myo3b APN 2 70,119,923 (GRCm39) splice site probably benign
IGL02553:Myo3b APN 2 69,925,568 (GRCm39) missense probably benign 0.00
IGL02557:Myo3b APN 2 70,085,663 (GRCm39) missense probably benign 0.16
IGL02648:Myo3b APN 2 69,935,716 (GRCm39) splice site probably benign
IGL02902:Myo3b APN 2 70,119,745 (GRCm39) missense probably benign 0.36
IGL02981:Myo3b APN 2 69,938,969 (GRCm39) missense probably damaging 1.00
IGL03030:Myo3b APN 2 70,257,160 (GRCm39) splice site probably benign
IGL03031:Myo3b APN 2 70,085,721 (GRCm39) missense possibly damaging 0.64
IGL03068:Myo3b APN 2 70,257,160 (GRCm39) splice site probably benign
IGL03078:Myo3b APN 2 70,117,335 (GRCm39) missense probably damaging 1.00
IGL03224:Myo3b APN 2 70,180,283 (GRCm39) missense probably benign
IGL03329:Myo3b APN 2 70,084,803 (GRCm39) missense probably damaging 1.00
R0079:Myo3b UTSW 2 69,925,502 (GRCm39) missense possibly damaging 0.58
R0226:Myo3b UTSW 2 70,047,510 (GRCm39) missense probably benign 0.00
R0238:Myo3b UTSW 2 69,935,769 (GRCm39) missense probably benign 0.00
R0238:Myo3b UTSW 2 69,935,769 (GRCm39) missense probably benign 0.00
R0239:Myo3b UTSW 2 69,935,769 (GRCm39) missense probably benign 0.00
R0239:Myo3b UTSW 2 69,935,769 (GRCm39) missense probably benign 0.00
R0313:Myo3b UTSW 2 70,179,303 (GRCm39) nonsense probably null
R0331:Myo3b UTSW 2 69,925,605 (GRCm39) missense probably damaging 1.00
R0371:Myo3b UTSW 2 70,083,304 (GRCm39) splice site probably benign
R0442:Myo3b UTSW 2 70,069,305 (GRCm39) critical splice donor site probably null
R0964:Myo3b UTSW 2 70,257,193 (GRCm39) missense probably damaging 1.00
R1217:Myo3b UTSW 2 70,161,224 (GRCm39) missense probably benign 0.02
R1429:Myo3b UTSW 2 70,083,351 (GRCm39) missense probably damaging 0.97
R1460:Myo3b UTSW 2 70,062,798 (GRCm39) missense probably benign 0.31
R1617:Myo3b UTSW 2 70,111,562 (GRCm39) missense probably benign 0.00
R1628:Myo3b UTSW 2 70,117,306 (GRCm39) missense probably benign 0.01
R1708:Myo3b UTSW 2 70,075,729 (GRCm39) nonsense probably null
R1940:Myo3b UTSW 2 70,088,419 (GRCm39) missense probably benign 0.01
R2407:Myo3b UTSW 2 70,085,597 (GRCm39) missense probably damaging 1.00
R3081:Myo3b UTSW 2 70,086,927 (GRCm39) splice site probably benign
R3687:Myo3b UTSW 2 70,075,658 (GRCm39) missense probably benign
R3745:Myo3b UTSW 2 70,064,829 (GRCm39) splice site probably benign
R4011:Myo3b UTSW 2 69,926,720 (GRCm39) missense probably benign 0.15
R4074:Myo3b UTSW 2 70,119,808 (GRCm39) missense probably damaging 1.00
R4419:Myo3b UTSW 2 69,926,706 (GRCm39) missense probably damaging 1.00
R4496:Myo3b UTSW 2 70,084,748 (GRCm39) missense probably benign
R4539:Myo3b UTSW 2 69,869,491 (GRCm39) start codon destroyed probably null 0.00
R4643:Myo3b UTSW 2 70,069,186 (GRCm39) missense possibly damaging 0.49
R4657:Myo3b UTSW 2 70,069,243 (GRCm39) missense possibly damaging 0.95
R4849:Myo3b UTSW 2 70,075,253 (GRCm39) missense probably damaging 0.98
R4997:Myo3b UTSW 2 70,088,427 (GRCm39) missense possibly damaging 0.49
R5008:Myo3b UTSW 2 70,088,412 (GRCm39) missense probably damaging 0.99
R5070:Myo3b UTSW 2 70,083,456 (GRCm39) missense probably damaging 1.00
R5072:Myo3b UTSW 2 69,925,593 (GRCm39) missense possibly damaging 0.96
R5082:Myo3b UTSW 2 70,088,374 (GRCm39) missense probably benign 0.01
R5103:Myo3b UTSW 2 69,926,747 (GRCm39) missense probably benign 0.08
R5109:Myo3b UTSW 2 69,925,637 (GRCm39) missense possibly damaging 0.66
R5304:Myo3b UTSW 2 70,257,232 (GRCm39) missense probably damaging 0.97
R5396:Myo3b UTSW 2 69,957,329 (GRCm39) missense probably damaging 0.99
R5400:Myo3b UTSW 2 69,935,724 (GRCm39) missense probably damaging 1.00
R5468:Myo3b UTSW 2 70,064,785 (GRCm39) missense probably benign 0.00
R5620:Myo3b UTSW 2 70,069,254 (GRCm39) missense probably benign 0.04
R5646:Myo3b UTSW 2 70,144,774 (GRCm39) missense probably damaging 0.97
R5729:Myo3b UTSW 2 69,936,083 (GRCm39) missense probably damaging 1.00
R5943:Myo3b UTSW 2 70,117,285 (GRCm39) missense probably benign 0.03
R5971:Myo3b UTSW 2 70,069,243 (GRCm39) missense possibly damaging 0.95
R6091:Myo3b UTSW 2 70,069,113 (GRCm39) missense probably benign 0.00
R6138:Myo3b UTSW 2 70,069,243 (GRCm39) missense possibly damaging 0.95
R6164:Myo3b UTSW 2 70,075,754 (GRCm39) critical splice donor site probably null
R6177:Myo3b UTSW 2 70,143,707 (GRCm39) missense probably benign 0.00
R6421:Myo3b UTSW 2 70,143,700 (GRCm39) missense probably benign 0.02
R6478:Myo3b UTSW 2 70,179,304 (GRCm39) missense probably benign
R6606:Myo3b UTSW 2 70,062,829 (GRCm39) missense possibly damaging 0.94
R6752:Myo3b UTSW 2 70,119,856 (GRCm39) missense probably damaging 1.00
R6982:Myo3b UTSW 2 70,256,409 (GRCm39) missense probably benign 0.02
R6997:Myo3b UTSW 2 69,957,329 (GRCm39) missense probably damaging 0.99
R7032:Myo3b UTSW 2 69,925,608 (GRCm39) missense probably damaging 0.98
R7038:Myo3b UTSW 2 69,925,552 (GRCm39) missense probably benign 0.00
R7062:Myo3b UTSW 2 70,047,501 (GRCm39) missense probably benign 0.00
R7537:Myo3b UTSW 2 70,047,513 (GRCm39) missense probably benign 0.01
R7861:Myo3b UTSW 2 69,939,032 (GRCm39) missense probably damaging 1.00
R7955:Myo3b UTSW 2 69,925,623 (GRCm39) missense probably benign 0.37
R7977:Myo3b UTSW 2 70,161,277 (GRCm39) missense probably benign
R7978:Myo3b UTSW 2 70,083,458 (GRCm39) missense probably damaging 1.00
R7987:Myo3b UTSW 2 70,161,277 (GRCm39) missense probably benign
R8803:Myo3b UTSW 2 70,083,338 (GRCm39) missense probably benign
R8843:Myo3b UTSW 2 70,088,325 (GRCm39) missense probably damaging 1.00
R8896:Myo3b UTSW 2 70,069,160 (GRCm39) missense probably damaging 1.00
R8904:Myo3b UTSW 2 70,257,252 (GRCm39) missense probably benign 0.07
R8909:Myo3b UTSW 2 70,083,440 (GRCm39) missense probably damaging 1.00
R9031:Myo3b UTSW 2 70,082,094 (GRCm39) missense probably damaging 0.99
R9052:Myo3b UTSW 2 70,062,747 (GRCm39) missense probably benign 0.00
R9251:Myo3b UTSW 2 70,088,425 (GRCm39) nonsense probably null
R9268:Myo3b UTSW 2 70,257,305 (GRCm39) makesense probably null
R9334:Myo3b UTSW 2 70,047,360 (GRCm39) missense probably damaging 1.00
R9377:Myo3b UTSW 2 70,069,242 (GRCm39) missense possibly damaging 0.78
R9457:Myo3b UTSW 2 69,925,553 (GRCm39) missense probably benign 0.01
R9520:Myo3b UTSW 2 70,062,753 (GRCm39) missense possibly damaging 0.67
R9593:Myo3b UTSW 2 70,075,648 (GRCm39) missense probably benign 0.43
R9671:Myo3b UTSW 2 70,086,908 (GRCm39) missense probably damaging 1.00
R9790:Myo3b UTSW 2 70,180,287 (GRCm39) missense probably benign 0.35
R9791:Myo3b UTSW 2 70,180,287 (GRCm39) missense probably benign 0.35
U15987:Myo3b UTSW 2 70,069,243 (GRCm39) missense possibly damaging 0.95
X0025:Myo3b UTSW 2 70,062,747 (GRCm39) missense probably benign 0.00
X0065:Myo3b UTSW 2 70,088,313 (GRCm39) missense probably damaging 1.00
Z1177:Myo3b UTSW 2 70,088,371 (GRCm39) missense probably benign 0.01
Z1177:Myo3b UTSW 2 69,926,705 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTTAGCACGTGAACTATGG -3'
(R):5'- CAAAGGGCATCTGGAAAGCC -3'

Sequencing Primer
(F):5'- CACGTGAACTATGGAGAGTAAACTTC -3'
(R):5'- GCATCTGGAAAGCCCCCTC -3'
Posted On 2016-02-04