Incidental Mutation 'R6937:Myo18b'
ID 540337
Institutional Source Beutler Lab
Gene Symbol Myo18b
Ensembl Gene ENSMUSG00000072720
Gene Name myosin XVIIIb
Synonyms 4932408L24Rik, 4933411E19Rik
MMRRC Submission 045051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6937 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 112836742-113044228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112950258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1546 (N1546S)
Ref Sequence ENSEMBL: ENSMUSP00000083810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086617]
AlphaFold E9PV66
Predicted Effect probably benign
Transcript: ENSMUST00000086617
AA Change: N1546S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: N1546S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (42/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 T C 10: 128,222,889 (GRCm39) V613A probably benign Het
Cdh23 A T 10: 60,322,893 (GRCm39) L337Q probably damaging Het
Chrna6 A G 8: 27,897,055 (GRCm39) L274P probably damaging Het
Ciita G A 16: 10,330,355 (GRCm39) probably null Het
Csnka2ip A T 16: 64,299,058 (GRCm39) probably benign Het
Ddx60 G A 8: 62,490,103 (GRCm39) D1691N probably damaging Het
Dnah7b T C 1: 46,234,280 (GRCm39) I1441T probably damaging Het
Dock4 T C 12: 40,884,634 (GRCm39) S1713P probably benign Het
Ep400 T C 5: 110,859,018 (GRCm39) probably benign Het
Epn1 T C 7: 5,092,943 (GRCm39) I85T probably damaging Het
Eri2 T C 7: 119,386,012 (GRCm39) K228E probably damaging Het
Garem1 C T 18: 21,280,827 (GRCm39) A510T probably benign Het
Gfm2 T A 13: 97,299,572 (GRCm39) probably null Het
Hnrnpd T C 5: 100,111,629 (GRCm39) T321A probably benign Het
Htr2a A T 14: 74,882,604 (GRCm39) I197F probably damaging Het
Krtap2-4 T A 11: 99,505,299 (GRCm39) probably benign Het
Lcn3 C A 2: 25,657,823 (GRCm39) Y179* probably null Het
Mak A T 13: 41,201,578 (GRCm39) M261K probably damaging Het
Marchf7 A G 2: 60,071,310 (GRCm39) T605A probably damaging Het
Mcm4 A C 16: 15,454,199 (GRCm39) F83V probably benign Het
Nckap1 T A 2: 80,339,060 (GRCm39) K989N probably damaging Het
Ndufaf5 A G 2: 140,023,522 (GRCm39) D119G probably damaging Het
Or7g28 A T 9: 19,271,985 (GRCm39) V222D probably damaging Het
Pcdh1 T C 18: 38,336,528 (GRCm39) T36A possibly damaging Het
Pitpna C T 11: 75,494,557 (GRCm39) T100I possibly damaging Het
Pmf1 A T 3: 88,306,496 (GRCm39) L102Q probably damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Robo3 A G 9: 37,341,176 (GRCm39) L10P probably benign Het
Serpinb6a T C 13: 34,102,801 (GRCm39) I241V possibly damaging Het
St14 A T 9: 31,040,956 (GRCm39) probably null Het
Stat6 T C 10: 127,494,571 (GRCm39) probably null Het
Tdpoz6 T C 3: 93,599,523 (GRCm39) N282S probably benign Het
Tdpoz8 A G 3: 92,981,417 (GRCm39) H145R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tgfbrap1 A T 1: 43,091,064 (GRCm39) V687E probably damaging Het
Trim30d A T 7: 104,132,634 (GRCm39) S68T probably damaging Het
Ttn A G 2: 76,663,253 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,292,158 (GRCm39) D97V probably benign Het
Ugt8a G A 3: 125,709,250 (GRCm39) probably benign Het
Vmn1r184 A T 7: 25,966,750 (GRCm39) K165N probably benign Het
Vmn2r86 T A 10: 130,284,523 (GRCm39) I523F probably damaging Het
Wapl G A 14: 34,444,311 (GRCm39) V588I probably benign Het
Wdr7 C T 18: 63,924,938 (GRCm39) P974S probably benign Het
Zfp975 T C 7: 42,314,480 (GRCm39) D31G possibly 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
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
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'- GACCCTTCACCTTCTGTATGGG -3'
(R):5'- CACAGTGCCAAGTGAAGGAC -3'

Sequencing Primer
(F):5'- CACTGTAAATTTGGTTGGGCAGTAC -3'
(R):5'- CAGTGCCAAGTGAAGGACTAATTTC -3'
Posted On 2018-11-06