Incidental Mutation 'R6276:Myo18b'
ID 507632
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 112688876-112896362 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112811642 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1430 (S1430T)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect probably benign
Transcript: ENSMUST00000086617
AA Change: S1430T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: S1430T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930504O13Rik T A 11: 58,446,366 (GRCm38) I94L possibly damaging Het
4931406P16Rik A T 7: 34,242,377 (GRCm38) Y627* probably null Het
Actr3 A T 1: 125,395,137 (GRCm38) D364E probably benign Het
Adra2c C T 5: 35,280,079 (GRCm38) T65I probably damaging Het
Agap2 T A 10: 127,089,360 (GRCm38) probably null Het
Ager T C 17: 34,598,754 (GRCm38) V126A possibly damaging Het
Arhgap39 T C 15: 76,737,536 (GRCm38) I288M probably benign Het
Arhgap45 A T 10: 80,026,234 (GRCm38) S541C probably benign Het
Asb4 A G 6: 5,431,043 (GRCm38) Y426C probably damaging Het
Azi2 C T 9: 118,049,338 (GRCm38) T82I probably damaging Het
Baz2b T A 2: 59,948,223 (GRCm38) R764S probably damaging Het
Ccdc146 A C 5: 21,301,340 (GRCm38) I701S probably damaging Het
Cd55b T A 1: 130,418,166 (GRCm38) I172F probably damaging Het
Cdk11b A G 4: 155,634,190 (GRCm38) E199G probably benign Het
Cntnap4 A T 8: 112,752,289 (GRCm38) T216S possibly damaging Het
D5Ertd579e A T 5: 36,604,514 (GRCm38) N1336K possibly damaging Het
Dlg5 T C 14: 24,164,568 (GRCm38) N649S probably damaging Het
Dmxl1 A G 18: 49,846,586 (GRCm38) E96G probably benign Het
Dscaml1 C T 9: 45,668,160 (GRCm38) T335I possibly damaging Het
Epb41l2 G T 10: 25,502,124 (GRCm38) G695C probably damaging Het
Erbb4 C T 1: 68,560,576 (GRCm38) R114H probably damaging Het
F2rl1 G T 13: 95,513,938 (GRCm38) Y145* probably null Het
Fam58b T C 11: 78,751,230 (GRCm38) K145E probably damaging Het
Fsip2 A T 2: 82,980,441 (GRCm38) Y2368F possibly damaging Het
Galnt7 C T 8: 57,536,578 (GRCm38) probably null Het
Gm6811 T A 17: 21,093,983 (GRCm38) noncoding transcript Het
Gm6811 T G 17: 21,094,690 (GRCm38) noncoding transcript Het
H2-M1 G A 17: 36,671,710 (GRCm38) T86M possibly damaging Het
Hk2 T C 6: 82,743,366 (GRCm38) D170G probably benign Het
Hmcn1 C T 1: 150,738,681 (GRCm38) A1325T possibly damaging Het
Insrr T A 3: 87,800,519 (GRCm38) Y89* probably null Het
Itga1 T C 13: 114,980,852 (GRCm38) E871G probably benign Het
Kat6a T C 8: 22,939,405 (GRCm38) L1592P possibly damaging Het
Kndc1 C A 7: 139,921,063 (GRCm38) A756E probably benign Het
Krt12 A T 11: 99,421,902 (GRCm38) C105* probably null Het
Lama1 G A 17: 67,784,088 (GRCm38) probably null Het
Lama3 A G 18: 12,506,949 (GRCm38) N67S probably benign Het
Lrrk1 A G 7: 66,306,839 (GRCm38) probably null Het
Map2 T C 1: 66,399,419 (GRCm38) V34A probably damaging Het
Mroh6 A G 15: 75,885,700 (GRCm38) L487P probably damaging Het
Notch3 G A 17: 32,154,749 (GRCm38) T495I probably benign Het
Olfr391-ps A T 11: 73,799,403 (GRCm38) M118K probably damaging Het
Palld C T 8: 61,513,423 (GRCm38) A980T probably damaging Het
Paxip1 A T 5: 27,761,668 (GRCm38) I620N probably damaging Het
Pcdha6 A G 18: 36,969,767 (GRCm38) probably null Het
Pcdhb11 G A 18: 37,421,760 (GRCm38) V48M probably benign Het
Pcdhga6 A G 18: 37,707,644 (GRCm38) E139G probably benign Het
Pck1 T C 2: 173,157,319 (GRCm38) V426A probably damaging Het
Pck2 T A 14: 55,542,624 (GRCm38) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm38) probably benign Het
Phactr3 G A 2: 178,279,019 (GRCm38) E222K probably damaging Het
Ppip5k1 A T 2: 121,323,203 (GRCm38) probably benign Het
Prodh2 A G 7: 30,506,651 (GRCm38) H278R probably benign Het
Rspry1 T A 8: 94,623,258 (GRCm38) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 (GRCm38) probably benign Het
Smn1 A G 13: 100,127,995 (GRCm38) N78S possibly damaging Het
Spta1 T A 1: 174,218,512 (GRCm38) I1614N probably damaging Het
Syt17 T C 7: 118,434,290 (GRCm38) D165G probably damaging Het
Tbck A G 3: 132,743,005 (GRCm38) Y593C probably damaging Het
Tcaf2 G C 6: 42,629,753 (GRCm38) F422L probably benign Het
Tex15 T A 8: 33,577,189 (GRCm38) F2216I possibly damaging Het
Trpc4 A G 3: 54,318,020 (GRCm38) E846G probably benign Het
Ttc41 T C 10: 86,744,449 (GRCm38) I753T probably benign Het
Vdac1 C T 11: 52,376,482 (GRCm38) T70M possibly damaging Het
Vmn1r124 A C 7: 21,260,179 (GRCm38) F147V probably benign Het
Vmn1r220 T C 13: 23,184,295 (GRCm38) D77G probably damaging Het
Vmn2r28 T C 7: 5,490,731 (GRCm38) H72R probably benign Het
Vmn2r78 A T 7: 86,921,110 (GRCm38) I279L probably benign Het
Vmn2r95 G T 17: 18,451,470 (GRCm38) A490S possibly damaging Het
Wdfy4 C T 14: 33,109,525 (GRCm38) A915T possibly damaging Het
Zmiz2 G T 11: 6,395,604 (GRCm38) probably null Het
Zscan2 A G 7: 80,875,809 (GRCm38) N426S probably benign Het
Other mutations in Myo18b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Myo18b APN 5 112,874,131 (GRCm38) missense probably benign 0.05
IGL00847:Myo18b APN 5 112,830,389 (GRCm38) splice site probably benign
IGL00848:Myo18b APN 5 112,871,485 (GRCm38) missense probably damaging 1.00
IGL00969:Myo18b APN 5 112,875,007 (GRCm38) unclassified probably benign
IGL01018:Myo18b APN 5 112,809,747 (GRCm38) missense probably damaging 1.00
IGL01448:Myo18b APN 5 112,811,704 (GRCm38) missense probably damaging 1.00
IGL01490:Myo18b APN 5 112,809,700 (GRCm38) missense possibly damaging 0.84
IGL01556:Myo18b APN 5 112,757,449 (GRCm38) splice site probably benign
IGL01637:Myo18b APN 5 112,840,629 (GRCm38) missense possibly damaging 0.82
IGL01819:Myo18b APN 5 112,878,050 (GRCm38) missense unknown
IGL02007:Myo18b APN 5 112,874,972 (GRCm38) unclassified probably benign
IGL02146:Myo18b APN 5 112,843,285 (GRCm38) missense probably damaging 1.00
IGL02229:Myo18b APN 5 112,878,110 (GRCm38) missense unknown
IGL02319:Myo18b APN 5 112,791,139 (GRCm38) missense probably damaging 0.99
IGL02398:Myo18b APN 5 112,830,312 (GRCm38) missense possibly damaging 0.92
IGL02420:Myo18b APN 5 112,827,986 (GRCm38) missense possibly damaging 0.64
IGL02626:Myo18b APN 5 112,878,085 (GRCm38) missense unknown
IGL02815:Myo18b APN 5 112,809,735 (GRCm38) missense probably damaging 1.00
IGL02822:Myo18b APN 5 112,775,345 (GRCm38) missense probably damaging 1.00
IGL02852:Myo18b APN 5 112,715,511 (GRCm38) missense probably benign 0.03
IGL02995:Myo18b APN 5 112,775,413 (GRCm38) splice site probably benign
IGL03019:Myo18b APN 5 112,692,397 (GRCm38) missense probably benign 0.21
IGL03039:Myo18b APN 5 112,840,771 (GRCm38) missense probably damaging 1.00
IGL03112:Myo18b APN 5 112,873,990 (GRCm38) missense probably benign 0.02
IGL03123:Myo18b APN 5 112,874,938 (GRCm38) unclassified probably benign
IGL03288:Myo18b APN 5 112,789,997 (GRCm38) missense probably damaging 1.00
IGL03391:Myo18b APN 5 112,874,479 (GRCm38) unclassified probably benign
klippel UTSW 5 112,757,453 (GRCm38) critical splice donor site probably null
PIT4651001:Myo18b UTSW 5 112,834,435 (GRCm38) missense probably benign 0.01
R0271:Myo18b UTSW 5 112,809,685 (GRCm38) missense possibly damaging 0.91
R0277:Myo18b UTSW 5 112,693,347 (GRCm38) splice site probably benign
R0352:Myo18b UTSW 5 112,874,523 (GRCm38) unclassified probably benign
R0504:Myo18b UTSW 5 112,873,576 (GRCm38) unclassified probably benign
R0539:Myo18b UTSW 5 112,723,868 (GRCm38) missense probably damaging 0.99
R0599:Myo18b UTSW 5 112,865,750 (GRCm38) missense probably damaging 1.00
R0627:Myo18b UTSW 5 112,798,834 (GRCm38) missense probably benign 0.38
R0659:Myo18b UTSW 5 112,760,327 (GRCm38) missense possibly damaging 0.66
R0671:Myo18b UTSW 5 112,692,766 (GRCm38) missense probably benign 0.00
R0847:Myo18b UTSW 5 112,874,488 (GRCm38) unclassified probably benign
R1082:Myo18b UTSW 5 112,760,414 (GRCm38) missense probably damaging 1.00
R1116:Myo18b UTSW 5 112,803,279 (GRCm38) missense probably damaging 1.00
R1264:Myo18b UTSW 5 112,830,319 (GRCm38) missense probably benign 0.12
R1280:Myo18b UTSW 5 112,723,805 (GRCm38) critical splice donor site probably null
R1444:Myo18b UTSW 5 112,775,251 (GRCm38) critical splice donor site probably null
R1446:Myo18b UTSW 5 112,757,559 (GRCm38) missense probably damaging 1.00
R1470:Myo18b UTSW 5 112,693,033 (GRCm38) missense probably damaging 1.00
R1470:Myo18b UTSW 5 112,693,033 (GRCm38) missense probably damaging 1.00
R1590:Myo18b UTSW 5 112,875,266 (GRCm38) nonsense probably null
R1601:Myo18b UTSW 5 112,871,498 (GRCm38) missense possibly damaging 0.73
R1903:Myo18b UTSW 5 112,692,758 (GRCm38) missense probably damaging 1.00
R1935:Myo18b UTSW 5 112,760,356 (GRCm38) missense probably benign 0.04
R1936:Myo18b UTSW 5 112,760,356 (GRCm38) missense probably benign 0.04
R2008:Myo18b UTSW 5 112,873,557 (GRCm38) missense probably benign
R2127:Myo18b UTSW 5 112,831,078 (GRCm38) missense probably damaging 1.00
R2129:Myo18b UTSW 5 112,831,078 (GRCm38) missense probably damaging 1.00
R2141:Myo18b UTSW 5 112,874,026 (GRCm38) missense probably benign 0.01
R2170:Myo18b UTSW 5 112,723,858 (GRCm38) missense probably benign 0.23
R2258:Myo18b UTSW 5 112,874,663 (GRCm38) unclassified probably benign
R2265:Myo18b UTSW 5 112,782,673 (GRCm38) missense probably damaging 1.00
R2483:Myo18b UTSW 5 112,858,408 (GRCm38) missense probably damaging 1.00
R2931:Myo18b UTSW 5 112,693,127 (GRCm38) missense probably benign 0.01
R3160:Myo18b UTSW 5 112,692,728 (GRCm38) missense probably damaging 0.99
R3162:Myo18b UTSW 5 112,692,728 (GRCm38) missense probably damaging 0.99
R3777:Myo18b UTSW 5 112,757,596 (GRCm38) missense probably damaging 0.99
R4240:Myo18b UTSW 5 112,803,187 (GRCm38) critical splice donor site probably null
R4243:Myo18b UTSW 5 112,692,395 (GRCm38) missense possibly damaging 0.95
R4245:Myo18b UTSW 5 112,692,395 (GRCm38) missense possibly damaging 0.95
R4533:Myo18b UTSW 5 112,693,025 (GRCm38) missense probably damaging 1.00
R4631:Myo18b UTSW 5 112,846,400 (GRCm38) missense probably damaging 1.00
R4661:Myo18b UTSW 5 112,875,175 (GRCm38) unclassified probably benign
R4755:Myo18b UTSW 5 112,874,474 (GRCm38) nonsense probably null
R4771:Myo18b UTSW 5 112,692,227 (GRCm38) nonsense probably null
R4812:Myo18b UTSW 5 112,809,718 (GRCm38) missense possibly damaging 0.95
R4840:Myo18b UTSW 5 112,874,029 (GRCm38) missense probably benign 0.02
R4888:Myo18b UTSW 5 112,874,480 (GRCm38) unclassified probably benign
R4995:Myo18b UTSW 5 112,760,392 (GRCm38) missense probably damaging 0.99
R5001:Myo18b UTSW 5 112,761,340 (GRCm38) missense probably damaging 0.99
R5015:Myo18b UTSW 5 112,790,057 (GRCm38) missense probably damaging 1.00
R5055:Myo18b UTSW 5 112,875,217 (GRCm38) unclassified probably benign
R5070:Myo18b UTSW 5 112,761,346 (GRCm38) missense probably damaging 1.00
R5105:Myo18b UTSW 5 112,840,778 (GRCm38) missense probably damaging 1.00
R5121:Myo18b UTSW 5 112,874,480 (GRCm38) unclassified probably benign
R5130:Myo18b UTSW 5 112,873,903 (GRCm38) missense probably benign 0.06
R5186:Myo18b UTSW 5 112,871,470 (GRCm38) missense probably damaging 1.00
R5437:Myo18b UTSW 5 112,757,573 (GRCm38) missense possibly damaging 0.73
R5535:Myo18b UTSW 5 112,790,042 (GRCm38) missense probably damaging 1.00
R5560:Myo18b UTSW 5 112,868,295 (GRCm38) missense probably damaging 0.96
R5810:Myo18b UTSW 5 112,834,450 (GRCm38) missense probably damaging 1.00
R5898:Myo18b UTSW 5 112,802,330 (GRCm38) splice site probably null
R6065:Myo18b UTSW 5 112,692,781 (GRCm38) missense probably benign 0.00
R6104:Myo18b UTSW 5 112,874,291 (GRCm38) unclassified probably benign
R6113:Myo18b UTSW 5 112,866,385 (GRCm38) missense probably damaging 1.00
R6158:Myo18b UTSW 5 112,874,172 (GRCm38) missense probably benign 0.01
R6167:Myo18b UTSW 5 112,872,507 (GRCm38) splice site probably null
R6220:Myo18b UTSW 5 112,757,507 (GRCm38) missense possibly damaging 0.93
R6290:Myo18b UTSW 5 112,865,735 (GRCm38) missense possibly damaging 0.69
R6291:Myo18b UTSW 5 112,865,735 (GRCm38) missense possibly damaging 0.69
R6795:Myo18b UTSW 5 112,846,364 (GRCm38) missense probably damaging 0.99
R6798:Myo18b UTSW 5 112,761,386 (GRCm38) missense probably damaging 0.98
R6817:Myo18b UTSW 5 112,830,238 (GRCm38) missense probably benign 0.00
R6937:Myo18b UTSW 5 112,802,392 (GRCm38) missense probably benign 0.12
R7034:Myo18b UTSW 5 112,723,904 (GRCm38) nonsense probably null
R7097:Myo18b UTSW 5 112,874,405 (GRCm38) missense unknown
R7145:Myo18b UTSW 5 112,817,679 (GRCm38) nonsense probably null
R7201:Myo18b UTSW 5 112,715,459 (GRCm38) missense probably damaging 1.00
R7260:Myo18b UTSW 5 112,775,288 (GRCm38) missense probably benign 0.01
R7265:Myo18b UTSW 5 112,812,072 (GRCm38) missense probably damaging 1.00
R7409:Myo18b UTSW 5 112,874,105 (GRCm38) missense probably benign 0.25
R7466:Myo18b UTSW 5 112,723,892 (GRCm38) missense probably benign 0.02
R7487:Myo18b UTSW 5 112,834,433 (GRCm38) missense possibly damaging 0.93
R7571:Myo18b UTSW 5 112,830,328 (GRCm38) missense probably damaging 1.00
R7600:Myo18b UTSW 5 112,878,103 (GRCm38) missense unknown
R7612:Myo18b UTSW 5 112,865,302 (GRCm38) missense possibly damaging 0.82
R7617:Myo18b UTSW 5 112,757,453 (GRCm38) critical splice donor site probably null
R7696:Myo18b UTSW 5 112,692,292 (GRCm38) missense probably damaging 1.00
R7710:Myo18b UTSW 5 112,875,025 (GRCm38) missense unknown
R8047:Myo18b UTSW 5 112,723,815 (GRCm38) missense possibly damaging 0.91
R8070:Myo18b UTSW 5 112,791,120 (GRCm38) missense probably benign 0.01
R8088:Myo18b UTSW 5 112,879,510 (GRCm38) start gained probably benign
R8247:Myo18b UTSW 5 112,692,196 (GRCm38) missense probably damaging 1.00
R8276:Myo18b UTSW 5 112,795,407 (GRCm38) missense possibly damaging 0.50
R8313:Myo18b UTSW 5 112,875,179 (GRCm38) missense unknown
R8375:Myo18b UTSW 5 112,760,393 (GRCm38) missense possibly damaging 0.85
R8432:Myo18b UTSW 5 112,764,512 (GRCm38) missense probably benign 0.00
R8475:Myo18b UTSW 5 112,873,556 (GRCm38) nonsense probably null
R8482:Myo18b UTSW 5 112,871,623 (GRCm38) nonsense probably null
R8671:Myo18b UTSW 5 112,874,743 (GRCm38) missense unknown
R8681:Myo18b UTSW 5 112,873,563 (GRCm38) critical splice acceptor site probably null
R8918:Myo18b UTSW 5 112,875,007 (GRCm38) unclassified probably benign
R8941:Myo18b UTSW 5 112,874,929 (GRCm38) unclassified probably benign
R8962:Myo18b UTSW 5 112,858,480 (GRCm38) missense probably benign 0.24
R8972:Myo18b UTSW 5 112,693,298 (GRCm38) missense probably benign 0.00
R9116:Myo18b UTSW 5 112,827,996 (GRCm38) missense probably damaging 1.00
R9209:Myo18b UTSW 5 112,875,061 (GRCm38) missense unknown
R9358:Myo18b UTSW 5 112,795,403 (GRCm38) missense possibly damaging 0.93
R9469:Myo18b UTSW 5 112,846,381 (GRCm38) missense probably benign 0.15
R9607:Myo18b UTSW 5 112,874,678 (GRCm38) missense unknown
R9659:Myo18b UTSW 5 112,874,516 (GRCm38) missense unknown
Z1088:Myo18b UTSW 5 112,757,484 (GRCm38) missense probably benign 0.25
Z1088:Myo18b UTSW 5 112,692,943 (GRCm38) missense possibly damaging 0.89
Z1176:Myo18b UTSW 5 112,831,190 (GRCm38) missense probably damaging 1.00
Z1176:Myo18b UTSW 5 112,809,738 (GRCm38) missense possibly damaging 0.87
Z1176:Myo18b UTSW 5 112,762,721 (GRCm38) missense not run
Z1177:Myo18b UTSW 5 112,873,541 (GRCm38) nonsense probably null
Z1177:Myo18b UTSW 5 112,762,721 (GRCm38) missense not run
Z1177:Myo18b UTSW 5 112,692,899 (GRCm38) missense probably damaging 1.00
Z1177:Myo18b UTSW 5 112,875,152 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTGATGGAAGTCTGCAAGC -3'
(R):5'- AGAGCTCACCCTGACATGAGAC -3'

Sequencing Primer
(F):5'- CTGATGGAAGTCTGCAAGCAAATG -3'
(R):5'- TGCTGTAGGTGCCTGGAATAAATAG -3'
Posted On 2018-03-15