Incidental Mutation 'R4631:Myo18b'
ID 349181
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission 041896-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4631 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 112836742-113044228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112994266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 896 (A896T)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect probably damaging
Transcript: ENSMUST00000086617
AA Change: A896T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: A896T

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
Meta Mutation Damage Score 0.4037 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (84/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,270 (GRCm39) L368Q probably damaging Het
Abcc2 C T 19: 43,803,146 (GRCm39) P661S possibly damaging Het
Adgre4 T G 17: 56,121,305 (GRCm39) M457R probably null Het
Ank C A 15: 27,467,176 (GRCm39) F29L probably benign Het
Arhgap20 T C 9: 51,751,653 (GRCm39) probably benign Het
Atf6 T C 1: 170,574,766 (GRCm39) probably null Het
Bhmt1b G A 18: 87,774,525 (GRCm39) R16H probably damaging Het
Bod1l A G 5: 41,975,078 (GRCm39) F2079L probably damaging Het
Cd163 T C 6: 124,306,045 (GRCm39) *1122Q probably null Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cntnap3 A G 13: 64,926,697 (GRCm39) Y558H probably benign Het
Ctsm T A 13: 61,685,510 (GRCm39) S301C probably null Het
Dlc1 A C 8: 37,404,712 (GRCm39) probably null Het
Dlg2 A T 7: 91,737,822 (GRCm39) I435F probably damaging Het
Dnah5 T C 15: 28,402,099 (GRCm39) V3420A probably damaging Het
Dnah5 T A 15: 28,420,140 (GRCm39) Y3813N probably damaging Het
Dnajc13 A G 9: 104,067,616 (GRCm39) M1181T probably damaging Het
Drc3 C A 11: 60,255,734 (GRCm39) T107N probably benign Het
Dydc2 T C 14: 40,771,286 (GRCm39) E131G probably benign Het
Eif5b T C 1: 38,080,828 (GRCm39) V723A probably damaging Het
Fndc9 C A 11: 46,128,675 (GRCm39) H65N possibly damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Gps1 T A 11: 120,679,065 (GRCm39) probably null Het
Gvin3 A G 7: 106,198,730 (GRCm39) noncoding transcript Het
Kazn G A 4: 141,845,471 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnip1 T A 11: 33,942,821 (GRCm39) noncoding transcript Het
Kif19a A G 11: 114,675,673 (GRCm39) I382V possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Malsu1 A T 6: 49,061,467 (GRCm39) E177V probably damaging Het
Man2a2 A G 7: 80,012,211 (GRCm39) F649L probably benign Het
Map3k11 A G 19: 5,740,941 (GRCm39) I223V probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh9 T G 15: 77,681,228 (GRCm39) D164A probably damaging Het
Myo16 T C 8: 10,556,984 (GRCm39) I1040T probably damaging Het
Myocd G T 11: 65,069,685 (GRCm39) N798K probably benign Het
Or13c7b T C 4: 43,820,563 (GRCm39) D266G probably benign Het
Or1n1b T G 2: 36,780,630 (GRCm39) T77P probably benign Het
Or2l13b G A 16: 19,348,891 (GRCm39) R260* probably null Het
Or4c11 C T 2: 88,695,174 (GRCm39) T75I probably benign Het
Or4g7 T A 2: 111,309,908 (GRCm39) W260R probably damaging Het
Or52a5 A T 7: 103,426,682 (GRCm39) L290Q probably damaging Het
Or5b105 T A 19: 13,080,636 (GRCm39) I11F probably benign Het
Pcdh18 T A 3: 49,710,890 (GRCm39) I142F probably damaging Het
Pcyox1 T C 6: 86,366,212 (GRCm39) E334G possibly damaging Het
Pcyox1 T C 6: 86,366,125 (GRCm39) D363G probably benign Het
Pgm2 A G 5: 64,263,290 (GRCm39) probably null Het
Plagl1 T G 10: 13,003,743 (GRCm39) probably benign Het
Ppp1r9a A G 6: 4,906,537 (GRCm39) D364G possibly damaging Het
Rab2b T A 14: 52,503,699 (GRCm39) H141L possibly damaging Het
Rev3l A G 10: 39,704,412 (GRCm39) K279E probably benign Het
Rnf111 G T 9: 70,357,678 (GRCm39) T607N probably benign Het
Scn8a C A 15: 100,914,384 (GRCm39) S1130* probably null Het
Selenbp1 A G 3: 94,851,879 (GRCm39) *473W probably null Het
Sh3bp4 A C 1: 89,071,995 (GRCm39) D281A probably damaging Het
Skint5 T A 4: 113,486,314 (GRCm39) probably null Het
Slc1a4 A G 11: 20,258,452 (GRCm39) L249P probably damaging Het
Slc45a2 T A 15: 11,012,662 (GRCm39) S222T probably benign Het
Slc7a4 A G 16: 17,392,255 (GRCm39) F393S probably damaging Het
Slc9a2 A T 1: 40,801,078 (GRCm39) D536V possibly damaging Het
Stra6 T A 9: 58,048,115 (GRCm39) probably benign Het
Tmem145 A G 7: 25,007,250 (GRCm39) D156G probably benign Het
Tns3 A C 11: 8,401,119 (GRCm39) F1060V probably benign Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trappc8 A G 18: 21,000,865 (GRCm39) S273P probably benign Het
Trmt11 A G 10: 30,435,200 (GRCm39) S320P probably benign Het
Ugt1a6a A T 1: 88,066,980 (GRCm39) Y262F probably benign Het
Vmn1r73 G A 7: 11,490,758 (GRCm39) C192Y probably benign Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Vmn2r25 T A 6: 123,829,962 (GRCm39) D63V possibly damaging Het
Vps13b C T 15: 35,646,278 (GRCm39) H1461Y possibly damaging Het
Ythdc2 A T 18: 45,020,698 (GRCm39) E1427D probably benign Het
Zbed6 A T 1: 133,586,482 (GRCm39) V285E probably damaging Het
Zbtb26 A G 2: 37,326,968 (GRCm39) F23L probably benign Het
Zfp62 T A 11: 49,108,632 (GRCm39) *908R probably null Het
Zfp975 A T 7: 42,312,369 (GRCm39) N81K probably benign Het
Zkscan16 G A 4: 58,951,918 (GRCm39) V198M 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
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
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'- TGAGGTGCAGCTACTAGTGC -3'
(R):5'- GTGGATATATCCCAAGTCTACCCTATC -3'

Sequencing Primer
(F):5'- TGCAGCTACTAGTGCAGCCAC -3'
(R):5'- ACTCCCTGAGGTGATCTC -3'
Posted On 2015-10-08