Incidental Mutation 'R4995:Myo18b'
ID 385165
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission 042589-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4995 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 112688876-112896362 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112760392 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2005 (V2005A)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect probably damaging
Transcript: ENSMUST00000086617
AA Change: V2005A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: V2005A

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: ENSMUST00000182189
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (86/87)
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
4921504E06Rik G A 2: 19,494,184 (GRCm38) Q333* probably null Het
4930505A04Rik C T 11: 30,426,349 (GRCm38) V173M probably damaging Het
Acvrl1 G A 15: 101,135,860 (GRCm38) R141H probably benign Het
Adprm A G 11: 67,041,610 (GRCm38) F158L possibly damaging Het
Aldoart2 C T 12: 55,566,253 (GRCm38) T321M probably benign Het
Ap3m2 A G 8: 22,803,776 (GRCm38) V86A probably benign Het
Arhgef19 T A 4: 141,247,515 (GRCm38) probably null Het
Armc4 G A 18: 7,223,663 (GRCm38) T460M probably damaging Het
Bcl2l12 T G 7: 44,994,191 (GRCm38) probably null Het
Bptf T C 11: 107,054,565 (GRCm38) Q2501R probably damaging Het
C230029F24Rik A T 1: 49,338,136 (GRCm38) noncoding transcript Het
C7 C T 15: 5,049,592 (GRCm38) G78D probably damaging Het
Caly T C 7: 140,070,625 (GRCm38) T135A probably benign Het
Cbl A G 9: 44,153,811 (GRCm38) M740T possibly damaging Het
Cbx4 A G 11: 119,081,211 (GRCm38) V446A probably benign Het
Celsr1 C A 15: 85,937,911 (GRCm38) R1735L probably damaging Het
Cep250 A G 2: 155,988,316 (GRCm38) D135G probably damaging Het
Cgn T C 3: 94,779,936 (GRCm38) T19A probably damaging Het
Chic2 A T 5: 75,044,204 (GRCm38) V32D probably damaging Het
Cntln A G 4: 85,049,883 (GRCm38) K780E probably benign Het
Col8a2 A T 4: 126,310,788 (GRCm38) D197V probably damaging Het
Crot A T 5: 8,974,000 (GRCm38) V372E probably damaging Het
Cyb561d2 C T 9: 107,541,548 (GRCm38) V26M probably damaging Het
Ddx5 G A 11: 106,785,236 (GRCm38) T237I probably damaging Het
Dmxl2 G T 9: 54,501,441 (GRCm38) probably benign Het
Dock8 T A 19: 25,158,383 (GRCm38) S1188R probably benign Het
Ehbp1 T A 11: 22,101,073 (GRCm38) H493L probably damaging Het
Eif5b T A 1: 38,051,711 (GRCm38) *1217K probably null Het
Eprs A G 1: 185,410,139 (GRCm38) probably benign Het
Etfdh T C 3: 79,605,788 (GRCm38) D376G probably benign Het
Fam186a T C 15: 99,945,099 (GRCm38) Q1088R probably benign Het
Fbxw16 G T 9: 109,441,250 (GRCm38) T141N probably damaging Het
Fgf11 G A 11: 69,798,759 (GRCm38) H138Y probably damaging Het
Gm1673 G A 5: 33,984,926 (GRCm38) R79H probably damaging Het
Htra3 T C 5: 35,671,074 (GRCm38) E154G probably damaging Het
Hydin T A 8: 110,569,642 (GRCm38) V3601D probably damaging Het
Jup G T 11: 100,379,541 (GRCm38) S380* probably null Het
Klrg1 T A 6: 122,278,275 (GRCm38) D66V probably benign Het
Llgl1 C T 11: 60,709,724 (GRCm38) A633V probably benign Het
Lmln T A 16: 33,074,097 (GRCm38) Y203* probably null Het
Lrrc58 T G 16: 37,877,056 (GRCm38) C165G probably benign Het
Lss T C 10: 76,547,537 (GRCm38) V557A probably benign Het
Mast4 T C 13: 102,905,754 (GRCm38) probably benign Het
Med13l C A 5: 118,730,949 (GRCm38) P754Q possibly damaging Het
Mga C T 2: 119,932,582 (GRCm38) R1240* probably null Het
Mgat5b T A 11: 116,974,199 (GRCm38) probably null Het
Mtor A G 4: 148,525,752 (GRCm38) D1572G probably damaging Het
Muc4 T A 16: 32,754,041 (GRCm38) S1306T probably benign Het
Muc4 T A 16: 32,754,214 (GRCm38) S1363T probably benign Het
Myo1e G A 9: 70,353,272 (GRCm38) D571N probably benign Het
Mypn T C 10: 63,119,968 (GRCm38) probably null Het
Ndufb10 T C 17: 24,722,757 (GRCm38) probably null Het
Nelfb G T 2: 25,206,196 (GRCm38) D300E probably benign Het
Olfr1389 T A 11: 49,430,655 (GRCm38) Y60N probably damaging Het
Olfr1507 A T 14: 52,490,531 (GRCm38) C61* probably null Het
Olfr625-ps1 T A 7: 103,683,367 (GRCm38) D206E probably damaging Het
Olfr668 T A 7: 104,925,735 (GRCm38) T10S probably benign Het
Pcdha11 C T 18: 37,011,027 (GRCm38) T57M probably benign Het
Pkp1 A T 1: 135,880,855 (GRCm38) I458N possibly damaging Het
Prr12 T A 7: 45,051,229 (GRCm38) probably benign Het
Prrc2c A T 1: 162,705,310 (GRCm38) probably benign Het
Psd4 T C 2: 24,397,247 (GRCm38) F397S probably benign Het
Pygm T C 19: 6,398,139 (GRCm38) I737T probably damaging Het
Rfx1 T A 8: 84,080,114 (GRCm38) probably null Het
Rsl1 A G 13: 67,182,249 (GRCm38) T254A possibly damaging Het
Sh3rf3 A G 10: 59,086,824 (GRCm38) Q574R probably benign Het
Spire1 T C 18: 67,552,779 (GRCm38) probably null Het
St6galnac4 G A 2: 32,594,063 (GRCm38) G91D probably damaging Het
Sytl2 T C 7: 90,382,257 (GRCm38) probably benign Het
Tbpl2 T A 2: 24,093,860 (GRCm38) K188N possibly damaging Het
Tenm3 A T 8: 48,229,137 (GRCm38) M2486K possibly damaging Het
Tgoln1 A C 6: 72,616,140 (GRCm38) V119G possibly damaging Het
Tpgs1 A T 10: 79,669,491 (GRCm38) N28Y probably benign Het
U2surp A C 9: 95,462,794 (GRCm38) probably benign Het
Vmn2r103 A G 17: 19,773,511 (GRCm38) H50R probably benign Het
Vmn2r19 A G 6: 123,329,910 (GRCm38) N459S probably benign Het
Vmn2r72 T C 7: 85,738,485 (GRCm38) S624G probably damaging Het
Vps13c A G 9: 67,919,321 (GRCm38) T1415A probably benign Het
Vwa5b1 G A 4: 138,608,843 (GRCm38) P147S probably damaging 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
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
R6276:Myo18b UTSW 5 112,811,642 (GRCm38) missense probably benign 0.31
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'- GGCAGCCATGAGAACAACTG -3'
(R):5'- AAGACCCAGGACTTGTCACC -3'

Sequencing Primer
(F):5'- TGAGAACAACTGCTGACCTG -3'
(R):5'- CCAGTGTGAGGGTTAGCAGTAC -3'
Posted On 2016-05-10