Incidental Mutation 'IGL02420:Myo18b'
ID 292617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02420
Quality Score
Status
Chromosome 5
Chromosomal Location 112836742-113044228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112975852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1332 (D1332E)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect possibly damaging
Transcript: ENSMUST00000086617
AA Change: D1332E

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: D1332E

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Apobec1 A T 6: 122,558,531 (GRCm39) Y75N probably benign Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Cntn6 T A 6: 104,823,103 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Inppl1 G A 7: 101,481,526 (GRCm39) probably benign Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Rab2a C T 4: 8,572,553 (GRCm39) T49M possibly damaging Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sufu A G 19: 46,413,481 (GRCm39) T76A probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G probably benign 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
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
R2258:Myo18b UTSW 5 113,022,529 (GRCm39) unclassified probably benign
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
Posted On 2015-04-16