Incidental Mutation 'R9469:Myo18b'
ID 715344
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9469 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 112836742-113044228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112994247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 902 (D902G)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect probably benign
Transcript: ENSMUST00000086617
AA Change: D902G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: D902G

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 probably benign
Transcript: ENSMUST00000183273
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A T 17: 57,183,283 (GRCm39) D8V probably benign Het
Ada T A 2: 163,574,192 (GRCm39) M155L probably benign Het
Adam23 A G 1: 63,584,671 (GRCm39) I360V probably benign Het
Ahnak G A 19: 8,988,225 (GRCm39) G3170R probably damaging Het
Alb G A 5: 90,610,659 (GRCm39) D80N probably benign Het
Amph G T 13: 19,270,769 (GRCm39) G126V probably damaging Het
Anks1b A T 10: 90,733,205 (GRCm39) M994L possibly damaging Het
Atp8a2 A G 14: 60,028,668 (GRCm39) L933P probably benign Het
Bcas1 T C 2: 170,191,292 (GRCm39) D546G possibly damaging Het
Bmpr2 A C 1: 59,881,928 (GRCm39) M186L probably benign Het
Clca3a2 T C 3: 144,507,938 (GRCm39) I711V probably damaging Het
Cobll1 G A 2: 64,966,774 (GRCm39) T128I probably damaging Het
Cog4 T C 8: 111,608,804 (GRCm39) W165R unknown Het
Cyp2j5 G A 4: 96,517,731 (GRCm39) R494* probably null Het
Dnah2 G A 11: 69,321,896 (GRCm39) A3808V probably damaging Het
Dnah5 A T 15: 28,421,146 (GRCm39) T3828S probably benign Het
Dsg1c T C 18: 20,400,947 (GRCm39) I150T probably damaging Het
Ehd2 A T 7: 15,684,332 (GRCm39) I489N probably damaging Het
Fam24a C A 7: 130,938,392 (GRCm39) T94K probably damaging Het
Gata2 A G 6: 88,182,301 (GRCm39) E423G possibly damaging Het
Gm8947 A G 1: 151,069,063 (GRCm39) I299V unknown Het
Gpr161 A G 1: 165,133,896 (GRCm39) I53V possibly damaging Het
Guca2b G A 4: 119,515,817 (GRCm39) Q15* probably null Het
Hus1 A G 11: 8,948,744 (GRCm39) V219A probably benign Het
Il5 T C 11: 53,614,824 (GRCm39) W129R probably damaging Het
Ipmk A G 10: 71,201,843 (GRCm39) Y77C probably damaging Het
Kcnip3 A G 2: 127,307,322 (GRCm39) L136P probably benign Het
Klhl2 G A 8: 65,196,069 (GRCm39) A558V probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lig3 G A 11: 82,686,199 (GRCm39) C613Y probably benign Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Megf6 A G 4: 154,335,369 (GRCm39) Y276C probably damaging Het
Mlph A G 1: 90,856,068 (GRCm39) E119G probably damaging Het
Mrpl39 T G 16: 84,517,170 (GRCm39) R316S probably damaging Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Myom1 G T 17: 71,368,122 (GRCm39) A482S possibly damaging Het
Nol4 A G 18: 23,085,318 (GRCm39) V32A probably damaging Het
Nrp2 T C 1: 62,804,030 (GRCm39) Y555H probably damaging Het
Or12d12 T C 17: 37,610,956 (GRCm39) D119G probably damaging Het
Or4d10c G A 19: 12,065,434 (GRCm39) H241Y probably benign Het
Or52l1 A T 7: 104,829,967 (GRCm39) H199Q probably damaging Het
Or8k27 C A 2: 86,275,787 (GRCm39) D180Y probably damaging Het
Papss1 A G 3: 131,288,959 (GRCm39) K175E possibly damaging Het
Pdcd5 T C 7: 35,343,827 (GRCm39) M39V probably benign Het
Plcl2 G A 17: 50,913,953 (GRCm39) D321N probably benign Het
Plxna4 G A 6: 32,494,526 (GRCm39) P30L probably benign Het
Pou2f1 G A 1: 165,740,830 (GRCm39) T113I probably benign Het
Ptpn2 T A 18: 67,808,907 (GRCm39) H303L probably benign Het
R3hdm1 T A 1: 128,106,921 (GRCm39) probably null Het
Rdx T C 9: 51,977,069 (GRCm39) V106A probably damaging Het
Ripk2 T C 4: 16,138,181 (GRCm39) D249G possibly damaging Het
Rnf169 A T 7: 99,575,567 (GRCm39) S343T possibly damaging Het
Rnf40 T A 7: 127,195,769 (GRCm39) L671Q probably damaging Het
Scube3 C A 17: 28,386,138 (GRCm39) S793* probably null Het
Sipa1l3 A T 7: 29,028,481 (GRCm39) M1633K possibly damaging Het
Slc16a14 A T 1: 84,900,612 (GRCm39) N124K probably benign Het
Smarcd2 G A 11: 106,163,332 (GRCm39) A68V probably benign Het
Smg1 T C 7: 117,739,774 (GRCm39) E3391G possibly damaging Het
Spata32 T C 11: 103,099,741 (GRCm39) M255V possibly damaging Het
Sstr5 T A 17: 25,710,941 (GRCm39) Q96L probably damaging Het
Tcaf3 A G 6: 42,573,828 (GRCm39) I128T probably benign Het
Tfdp1 C T 8: 13,422,965 (GRCm39) T290M probably benign Het
Ticrr C T 7: 79,344,511 (GRCm39) H1459Y probably benign Het
Tmed4 T A 11: 6,223,763 (GRCm39) Q171L probably benign Het
Tmem40 G A 6: 115,719,321 (GRCm39) S48F possibly damaging Het
Tnfaip1 A G 11: 78,419,075 (GRCm39) probably null Het
Top1mt A G 15: 75,539,742 (GRCm39) Y290H probably damaging Het
Topaz1 A T 9: 122,577,585 (GRCm39) D165V probably damaging Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Ubac1 G A 2: 25,897,763 (GRCm39) R286C probably damaging Het
Ube2u A G 4: 100,406,958 (GRCm39) E273G possibly damaging Het
Vmn1r213 G A 13: 23,196,101 (GRCm39) S228N probably benign Het
Vmn2r28 A T 7: 5,487,118 (GRCm39) V515E probably damaging Het
Vps13d A G 4: 144,780,691 (GRCm39) L4011P Het
Ythdc2 T C 18: 45,019,383 (GRCm39) F1384S probably damaging Het
Zfp423 T A 8: 88,509,519 (GRCm39) Y275F probably damaging Het
Zfp493 A G 13: 67,934,325 (GRCm39) K93E probably benign Het
Zfp980 G T 4: 145,427,687 (GRCm39) G139W 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
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
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
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'- AGGTGCAGCTACTAGTGCAG -3'
(R):5'- TGGATATATCCCAAGTCTACCCTATC -3'

Sequencing Primer
(F):5'- GCCACTGCAAGATCCAGC -3'
(R):5'- TACCCTGTGTCTGGCATC -3'
Posted On 2022-06-15