Incidental Mutation 'R2258:Myo18b'
ID 243523
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission 040258-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2258 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 112836742-113044228 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 113022529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect unknown
Transcript: ENSMUST00000086617
AA Change: E288K
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: E288K

DomainStartEndE-ValueType
low complexity region 20 28 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 86 100 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
low complexity region 355 372 N/A INTRINSIC
low complexity region 377 419 N/A INTRINSIC
MYSc 605 1374 8.78e-30 SMART
IQ 1375 1397 5.92e-4 SMART
Pfam:Myosin_tail_1 1423 1875 5e-12 PFAM
low complexity region 1965 1985 N/A INTRINSIC
coiled coil region 2052 2126 N/A INTRINSIC
low complexity region 2184 2199 N/A INTRINSIC
low complexity region 2325 2336 N/A INTRINSIC
low complexity region 2408 2424 N/A INTRINSIC
low complexity region 2544 2558 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183029
Predicted Effect probably benign
Transcript: ENSMUST00000183273
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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 may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,267 (GRCm39) N308S possibly damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Ang4 A G 14: 52,001,955 (GRCm39) probably benign Het
Ap3d1 A G 10: 80,556,966 (GRCm39) S315P probably benign Het
Arhgap15 G A 2: 44,276,359 (GRCm39) G437R probably damaging Het
Cacna2d1 T C 5: 16,562,287 (GRCm39) C810R probably damaging Het
Capn5 A G 7: 97,785,082 (GRCm39) W131R probably damaging Het
Ccnj A G 19: 40,834,277 (GRCm39) Q292R probably benign Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdk5r2 T C 1: 74,895,059 (GRCm39) L268P probably damaging Het
Cfap251 C G 5: 123,421,411 (GRCm39) probably null Het
Clrn2 A G 5: 45,611,304 (GRCm39) D51G probably benign Het
Cntd1 T C 11: 101,175,682 (GRCm39) S174P probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Col17a1 C T 19: 47,669,816 (GRCm39) probably null Het
Cyp2a5 A G 7: 26,536,528 (GRCm39) D169G possibly damaging Het
Cyp2c37 A G 19: 39,984,303 (GRCm39) I264V possibly damaging Het
Cyp2j12 A G 4: 96,021,315 (GRCm39) I97T probably damaging Het
Dipk1b T C 2: 26,525,162 (GRCm39) L157P probably damaging Het
Eif3b T C 5: 140,413,258 (GRCm39) F354L possibly damaging Het
Eif4a3l1 A T 6: 136,305,559 (GRCm39) M7L probably benign Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
F5 T A 1: 164,019,750 (GRCm39) S742T probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fndc3b G T 3: 27,494,309 (GRCm39) Q939K possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpbar1 T C 1: 74,318,164 (GRCm39) F136L probably benign Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hecw1 A T 13: 14,490,723 (GRCm39) D756E probably benign Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Inpp4a T A 1: 37,416,777 (GRCm39) S433T probably damaging Het
Ism2 C A 12: 87,326,848 (GRCm39) V320L possibly damaging Het
Krt8 G T 15: 101,907,257 (GRCm39) D275E probably benign Het
Lgalsl2 A G 7: 5,362,401 (GRCm39) M11V probably benign Het
Lyg2 A C 1: 37,948,077 (GRCm39) N132K probably benign Het
Lyst G A 13: 13,812,243 (GRCm39) R885Q probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mcc C A 18: 44,608,203 (GRCm39) G355W probably damaging Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Mrgpra3 A T 7: 47,239,842 (GRCm39) M28K probably benign Het
Ms4a15 A G 19: 10,962,159 (GRCm39) C47R probably benign Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Nat8f4 A T 6: 85,878,207 (GRCm39) H105Q possibly damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Nrap T C 19: 56,310,394 (GRCm39) R1534G possibly damaging Het
Nwd2 C A 5: 63,962,499 (GRCm39) N694K probably benign Het
Oas1c G A 5: 120,941,082 (GRCm39) A35V probably null Het
Or2d3b A G 7: 106,514,113 (GRCm39) K236R probably damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or5p58 C T 7: 107,694,402 (GRCm39) R125H possibly damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pate8 C A 9: 36,493,161 (GRCm39) V54L probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Polr1f A G 12: 33,483,587 (GRCm39) H113R probably damaging Het
Prex1 C T 2: 166,429,077 (GRCm39) V839I probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Rbm20 T C 19: 53,840,172 (GRCm39) S1054P probably benign Het
Rhox13 G C X: 37,210,221 (GRCm39) E19Q unknown Het
Ryr2 A G 13: 11,753,102 (GRCm39) F1740L possibly damaging Het
Sox1 C A 8: 12,446,927 (GRCm39) N189K possibly damaging Het
Spta1 C A 1: 174,001,907 (GRCm39) S12R possibly damaging Het
Stard13 A G 5: 150,963,196 (GRCm39) L971P probably damaging Het
Tigd4 T A 3: 84,501,600 (GRCm39) N172K probably benign Het
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Vldlr A G 19: 27,215,786 (GRCm39) D220G probably damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Wdr25 T A 12: 108,864,100 (GRCm39) S82T possibly damaging Het
Wnk4 C A 11: 101,165,861 (GRCm39) P796Q probably damaging Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zc3h15 G A 2: 83,487,360 (GRCm39) V60I probably benign Het
Zfp629 G A 7: 127,210,963 (GRCm39) T282M probably damaging Het
Zscan22 T G 7: 12,637,887 (GRCm39) V93G probably damaging Het
Other mutations in Myo18b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Myo18b APN 5 113,021,997 (GRCm39) missense probably benign 0.05
IGL00847:Myo18b APN 5 112,978,255 (GRCm39) splice site probably benign
IGL00848:Myo18b APN 5 113,019,351 (GRCm39) missense probably damaging 1.00
IGL00969:Myo18b APN 5 113,022,873 (GRCm39) unclassified probably benign
IGL01018:Myo18b APN 5 112,957,613 (GRCm39) missense probably damaging 1.00
IGL01448:Myo18b APN 5 112,959,570 (GRCm39) missense probably damaging 1.00
IGL01490:Myo18b APN 5 112,957,566 (GRCm39) missense possibly damaging 0.84
IGL01556:Myo18b APN 5 112,905,315 (GRCm39) splice site probably benign
IGL01637:Myo18b APN 5 112,988,495 (GRCm39) missense possibly damaging 0.82
IGL01819:Myo18b APN 5 113,025,916 (GRCm39) missense unknown
IGL02007:Myo18b APN 5 113,022,838 (GRCm39) unclassified probably benign
IGL02146:Myo18b APN 5 112,991,151 (GRCm39) missense probably damaging 1.00
IGL02229:Myo18b APN 5 113,025,976 (GRCm39) missense unknown
IGL02319:Myo18b APN 5 112,939,005 (GRCm39) missense probably damaging 0.99
IGL02398:Myo18b APN 5 112,978,178 (GRCm39) missense possibly damaging 0.92
IGL02420:Myo18b APN 5 112,975,852 (GRCm39) missense possibly damaging 0.64
IGL02626:Myo18b APN 5 113,025,951 (GRCm39) missense unknown
IGL02815:Myo18b APN 5 112,957,601 (GRCm39) missense probably damaging 1.00
IGL02822:Myo18b APN 5 112,923,211 (GRCm39) missense probably damaging 1.00
IGL02852:Myo18b APN 5 112,863,377 (GRCm39) missense probably benign 0.03
IGL02995:Myo18b APN 5 112,923,279 (GRCm39) splice site probably benign
IGL03019:Myo18b APN 5 112,840,263 (GRCm39) missense probably benign 0.21
IGL03039:Myo18b APN 5 112,988,637 (GRCm39) missense probably damaging 1.00
IGL03112:Myo18b APN 5 113,021,856 (GRCm39) missense probably benign 0.02
IGL03123:Myo18b APN 5 113,022,804 (GRCm39) unclassified probably benign
IGL03288:Myo18b APN 5 112,937,863 (GRCm39) missense probably damaging 1.00
IGL03391:Myo18b APN 5 113,022,345 (GRCm39) unclassified probably benign
klippel UTSW 5 112,905,319 (GRCm39) critical splice donor site probably null
PIT4651001:Myo18b UTSW 5 112,982,301 (GRCm39) missense probably benign 0.01
R0271:Myo18b UTSW 5 112,957,551 (GRCm39) missense possibly damaging 0.91
R0277:Myo18b UTSW 5 112,841,213 (GRCm39) splice site probably benign
R0352:Myo18b UTSW 5 113,022,389 (GRCm39) unclassified probably benign
R0504:Myo18b UTSW 5 113,021,442 (GRCm39) unclassified probably benign
R0539:Myo18b UTSW 5 112,871,734 (GRCm39) missense probably damaging 0.99
R0599:Myo18b UTSW 5 113,013,616 (GRCm39) missense probably damaging 1.00
R0627:Myo18b UTSW 5 112,946,700 (GRCm39) missense probably benign 0.38
R0659:Myo18b UTSW 5 112,908,193 (GRCm39) missense possibly damaging 0.66
R0671:Myo18b UTSW 5 112,840,632 (GRCm39) missense probably benign 0.00
R0847:Myo18b UTSW 5 113,022,354 (GRCm39) unclassified probably benign
R1082:Myo18b UTSW 5 112,908,280 (GRCm39) missense probably damaging 1.00
R1116:Myo18b UTSW 5 112,951,145 (GRCm39) missense probably damaging 1.00
R1264:Myo18b UTSW 5 112,978,185 (GRCm39) missense probably benign 0.12
R1280:Myo18b UTSW 5 112,871,671 (GRCm39) critical splice donor site probably null
R1444:Myo18b UTSW 5 112,923,117 (GRCm39) critical splice donor site probably null
R1446:Myo18b UTSW 5 112,905,425 (GRCm39) missense probably damaging 1.00
R1470:Myo18b UTSW 5 112,840,899 (GRCm39) missense probably damaging 1.00
R1470:Myo18b UTSW 5 112,840,899 (GRCm39) missense probably damaging 1.00
R1590:Myo18b UTSW 5 113,023,132 (GRCm39) nonsense probably null
R1601:Myo18b UTSW 5 113,019,364 (GRCm39) missense possibly damaging 0.73
R1903:Myo18b UTSW 5 112,840,624 (GRCm39) missense probably damaging 1.00
R1935:Myo18b UTSW 5 112,908,222 (GRCm39) missense probably benign 0.04
R1936:Myo18b UTSW 5 112,908,222 (GRCm39) missense probably benign 0.04
R2008:Myo18b UTSW 5 113,021,423 (GRCm39) missense probably benign
R2127:Myo18b UTSW 5 112,978,944 (GRCm39) missense probably damaging 1.00
R2129:Myo18b UTSW 5 112,978,944 (GRCm39) missense probably damaging 1.00
R2141:Myo18b UTSW 5 113,021,892 (GRCm39) missense probably benign 0.01
R2170:Myo18b UTSW 5 112,871,724 (GRCm39) missense probably benign 0.23
R2265:Myo18b UTSW 5 112,930,539 (GRCm39) missense probably damaging 1.00
R2483:Myo18b UTSW 5 113,006,274 (GRCm39) missense probably damaging 1.00
R2931:Myo18b UTSW 5 112,840,993 (GRCm39) missense probably benign 0.01
R3160:Myo18b UTSW 5 112,840,594 (GRCm39) missense probably damaging 0.99
R3162:Myo18b UTSW 5 112,840,594 (GRCm39) missense probably damaging 0.99
R3777:Myo18b UTSW 5 112,905,462 (GRCm39) missense probably damaging 0.99
R4240:Myo18b UTSW 5 112,951,053 (GRCm39) critical splice donor site probably null
R4243:Myo18b UTSW 5 112,840,261 (GRCm39) missense possibly damaging 0.95
R4245:Myo18b UTSW 5 112,840,261 (GRCm39) missense possibly damaging 0.95
R4533:Myo18b UTSW 5 112,840,891 (GRCm39) missense probably damaging 1.00
R4631:Myo18b UTSW 5 112,994,266 (GRCm39) missense probably damaging 1.00
R4661:Myo18b UTSW 5 113,023,041 (GRCm39) unclassified probably benign
R4755:Myo18b UTSW 5 113,022,340 (GRCm39) nonsense probably null
R4771:Myo18b UTSW 5 112,840,093 (GRCm39) nonsense probably null
R4812:Myo18b UTSW 5 112,957,584 (GRCm39) missense possibly damaging 0.95
R4840:Myo18b UTSW 5 113,021,895 (GRCm39) missense probably benign 0.02
R4888:Myo18b UTSW 5 113,022,346 (GRCm39) unclassified probably benign
R4995:Myo18b UTSW 5 112,908,258 (GRCm39) missense probably damaging 0.99
R5001:Myo18b UTSW 5 112,909,206 (GRCm39) missense probably damaging 0.99
R5015:Myo18b UTSW 5 112,937,923 (GRCm39) missense probably damaging 1.00
R5055:Myo18b UTSW 5 113,023,083 (GRCm39) unclassified probably benign
R5070:Myo18b UTSW 5 112,909,212 (GRCm39) missense probably damaging 1.00
R5105:Myo18b UTSW 5 112,988,644 (GRCm39) missense probably damaging 1.00
R5121:Myo18b UTSW 5 113,022,346 (GRCm39) unclassified probably benign
R5130:Myo18b UTSW 5 113,021,769 (GRCm39) missense probably benign 0.06
R5186:Myo18b UTSW 5 113,019,336 (GRCm39) missense probably damaging 1.00
R5437:Myo18b UTSW 5 112,905,439 (GRCm39) missense possibly damaging 0.73
R5535:Myo18b UTSW 5 112,937,908 (GRCm39) missense probably damaging 1.00
R5560:Myo18b UTSW 5 113,016,161 (GRCm39) missense probably damaging 0.96
R5810:Myo18b UTSW 5 112,982,316 (GRCm39) missense probably damaging 1.00
R5898:Myo18b UTSW 5 112,950,196 (GRCm39) splice site probably null
R6065:Myo18b UTSW 5 112,840,647 (GRCm39) missense probably benign 0.00
R6104:Myo18b UTSW 5 113,022,157 (GRCm39) unclassified probably benign
R6113:Myo18b UTSW 5 113,014,251 (GRCm39) missense probably damaging 1.00
R6158:Myo18b UTSW 5 113,022,038 (GRCm39) missense probably benign 0.01
R6167:Myo18b UTSW 5 113,020,373 (GRCm39) splice site probably null
R6220:Myo18b UTSW 5 112,905,373 (GRCm39) missense possibly damaging 0.93
R6276:Myo18b UTSW 5 112,959,508 (GRCm39) missense probably benign 0.31
R6290:Myo18b UTSW 5 113,013,601 (GRCm39) missense possibly damaging 0.69
R6291:Myo18b UTSW 5 113,013,601 (GRCm39) missense possibly damaging 0.69
R6795:Myo18b UTSW 5 112,994,230 (GRCm39) missense probably damaging 0.99
R6798:Myo18b UTSW 5 112,909,252 (GRCm39) missense probably damaging 0.98
R6817:Myo18b UTSW 5 112,978,104 (GRCm39) missense probably benign 0.00
R6937:Myo18b UTSW 5 112,950,258 (GRCm39) missense probably benign 0.12
R7034:Myo18b UTSW 5 112,871,770 (GRCm39) nonsense probably null
R7097:Myo18b UTSW 5 113,022,271 (GRCm39) missense unknown
R7145:Myo18b UTSW 5 112,965,545 (GRCm39) nonsense probably null
R7201:Myo18b UTSW 5 112,863,325 (GRCm39) missense probably damaging 1.00
R7260:Myo18b UTSW 5 112,923,154 (GRCm39) missense probably benign 0.01
R7265:Myo18b UTSW 5 112,959,938 (GRCm39) missense probably damaging 1.00
R7409:Myo18b UTSW 5 113,021,971 (GRCm39) missense probably benign 0.25
R7466:Myo18b UTSW 5 112,871,758 (GRCm39) missense probably benign 0.02
R7487:Myo18b UTSW 5 112,982,299 (GRCm39) missense possibly damaging 0.93
R7571:Myo18b UTSW 5 112,978,194 (GRCm39) missense probably damaging 1.00
R7600:Myo18b UTSW 5 113,025,969 (GRCm39) missense unknown
R7612:Myo18b UTSW 5 113,013,168 (GRCm39) missense possibly damaging 0.82
R7617:Myo18b UTSW 5 112,905,319 (GRCm39) critical splice donor site probably null
R7696:Myo18b UTSW 5 112,840,158 (GRCm39) missense probably damaging 1.00
R7710:Myo18b UTSW 5 113,022,891 (GRCm39) missense unknown
R8047:Myo18b UTSW 5 112,871,681 (GRCm39) missense possibly damaging 0.91
R8070:Myo18b UTSW 5 112,938,986 (GRCm39) missense probably benign 0.01
R8088:Myo18b UTSW 5 113,027,376 (GRCm39) start gained probably benign
R8247:Myo18b UTSW 5 112,840,062 (GRCm39) missense probably damaging 1.00
R8276:Myo18b UTSW 5 112,943,273 (GRCm39) missense possibly damaging 0.50
R8313:Myo18b UTSW 5 113,023,045 (GRCm39) missense unknown
R8375:Myo18b UTSW 5 112,908,259 (GRCm39) missense possibly damaging 0.85
R8432:Myo18b UTSW 5 112,912,378 (GRCm39) missense probably benign 0.00
R8475:Myo18b UTSW 5 113,021,422 (GRCm39) nonsense probably null
R8482:Myo18b UTSW 5 113,019,489 (GRCm39) nonsense probably null
R8671:Myo18b UTSW 5 113,022,609 (GRCm39) missense unknown
R8681:Myo18b UTSW 5 113,021,429 (GRCm39) critical splice acceptor site probably null
R8918:Myo18b UTSW 5 113,022,873 (GRCm39) unclassified probably benign
R8941:Myo18b UTSW 5 113,022,795 (GRCm39) unclassified probably benign
R8962:Myo18b UTSW 5 113,006,346 (GRCm39) missense probably benign 0.24
R8972:Myo18b UTSW 5 112,841,164 (GRCm39) missense probably benign 0.00
R9116:Myo18b UTSW 5 112,975,862 (GRCm39) missense probably damaging 1.00
R9209:Myo18b UTSW 5 113,022,927 (GRCm39) missense unknown
R9358:Myo18b UTSW 5 112,943,269 (GRCm39) missense possibly damaging 0.93
R9469:Myo18b UTSW 5 112,994,247 (GRCm39) missense probably benign 0.15
R9607:Myo18b UTSW 5 113,022,544 (GRCm39) missense unknown
R9659:Myo18b UTSW 5 113,022,382 (GRCm39) missense unknown
Z1088:Myo18b UTSW 5 112,905,350 (GRCm39) missense probably benign 0.25
Z1088:Myo18b UTSW 5 112,840,809 (GRCm39) missense possibly damaging 0.89
Z1176:Myo18b UTSW 5 112,979,056 (GRCm39) missense probably damaging 1.00
Z1176:Myo18b UTSW 5 112,957,604 (GRCm39) missense possibly damaging 0.87
Z1176:Myo18b UTSW 5 112,910,587 (GRCm39) missense not run
Z1177:Myo18b UTSW 5 113,021,407 (GRCm39) nonsense probably null
Z1177:Myo18b UTSW 5 112,910,587 (GRCm39) missense not run
Z1177:Myo18b UTSW 5 112,840,765 (GRCm39) missense probably damaging 1.00
Z1177:Myo18b UTSW 5 113,023,018 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGTGGACTCTGATAGCTGTC -3'
(R):5'- TGCCTGAGAAGACTAGGACTAG -3'

Sequencing Primer
(F):5'- GACTCTGATAGCTGTCCCGTG -3'
(R):5'- TTGGAGATACAGGCCAAAGCAC -3'
Posted On 2014-10-16