Incidental Mutation 'R6486:Myo18a'
ID 517343
Institutional Source Beutler Lab
Gene Symbol Myo18a
Ensembl Gene ENSMUSG00000000631
Gene Name myosin XVIIIA
Synonyms MyoPDZ
MMRRC Submission 044618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6486 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77654072-77756806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77755648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1713 (E1713G)
Ref Sequence ENSEMBL: ENSMUSP00000119574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000645] [ENSMUST00000092884] [ENSMUST00000092887] [ENSMUST00000100794] [ENSMUST00000102488] [ENSMUST00000108375] [ENSMUST00000108376] [ENSMUST00000168348] [ENSMUST00000130305] [ENSMUST00000130627] [ENSMUST00000164334] [ENSMUST00000167856] [ENSMUST00000169105] [ENSMUST00000172303]
AlphaFold Q9JMH9
Predicted Effect probably benign
Transcript: ENSMUST00000000645
AA Change: E2033G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: E2033G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 399 1183 1.53e-45 SMART
IQ 1184 1206 1.11e-3 SMART
Pfam:Myosin_tail_1 1219 1867 1.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092884
AA Change: E1701G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: E1701G

DomainStartEndE-ValueType
MYSc 68 851 4.16e-47 SMART
IQ 852 874 1.11e-3 SMART
Pfam:Myosin_tail_1 888 1534 2e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092887
AA Change: E2032G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: E2032G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 399 1182 4.16e-47 SMART
IQ 1183 1205 1.11e-3 SMART
Pfam:Myosin_tail_1 1218 1866 3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100794
AA Change: E1697G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: E1697G

DomainStartEndE-ValueType
MYSc 68 847 1.45e-46 SMART
IQ 848 870 1.11e-3 SMART
Pfam:Myosin_tail_1 884 1530 4.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102488
AA Change: E2032G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: E2032G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 399 1182 4.16e-47 SMART
IQ 1183 1205 1.11e-3 SMART
Pfam:Myosin_tail_1 1218 1866 3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108375
AA Change: E2047G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: E2047G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 399 1182 4.16e-47 SMART
IQ 1183 1205 1.11e-3 SMART
Pfam:Myosin_tail_1 1218 1838 6.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108376
AA Change: E1995G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: E1995G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 399 1182 4.16e-47 SMART
IQ 1183 1205 1.11e-3 SMART
Blast:MYSc 1258 1387 1e-14 BLAST
low complexity region 1396 1407 N/A INTRINSIC
low complexity region 1743 1762 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168348
AA Change: E2080G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: E2080G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 447 1230 4.16e-47 SMART
IQ 1231 1253 1.11e-3 SMART
Blast:MYSc 1306 1435 1e-14 BLAST
low complexity region 1444 1455 N/A INTRINSIC
low complexity region 1828 1847 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130305
AA Change: E1713G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: E1713G

DomainStartEndE-ValueType
MYSc 80 863 4.16e-47 SMART
IQ 864 886 1.11e-3 SMART
Pfam:Myosin_tail_1 902 1547 2.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130627
AA Change: E2059G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: E2059G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 411 1194 4.16e-47 SMART
IQ 1195 1217 1.11e-3 SMART
Pfam:Myosin_tail_1 1230 1850 6.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164334
AA Change: E1716G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: E1716G

DomainStartEndE-ValueType
MYSc 68 851 4.16e-47 SMART
IQ 852 874 1.11e-3 SMART
Pfam:Myosin_tail_1 888 1505 4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167856
AA Change: E1639G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: E1639G

DomainStartEndE-ValueType
MYSc 16 789 1.3e-32 SMART
IQ 790 812 1.11e-3 SMART
Blast:MYSc 865 994 1e-14 BLAST
low complexity region 1003 1014 N/A INTRINSIC
low complexity region 1387 1406 N/A INTRINSIC
internal_repeat_1 1569 1627 2.13e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000169105
AA Change: E2044G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: E2044G

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 202 227 N/A INTRINSIC
PDZ 229 311 5.72e-10 SMART
MYSc 411 1194 4.16e-47 SMART
IQ 1195 1217 1.11e-3 SMART
Pfam:Myosin_tail_1 1230 1878 7.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172303
AA Change: E1719G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: E1719G

DomainStartEndE-ValueType
MYSc 80 863 4.16e-47 SMART
IQ 864 886 1.11e-3 SMART
Pfam:Myosin_tail_1 902 1547 2.6e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142571
Predicted Effect probably benign
Transcript: ENSMUST00000135375
SMART Domains Protein: ENSMUSP00000117044
Gene: ENSMUSG00000000631

DomainStartEndE-ValueType
low complexity region 198 231 N/A INTRINSIC
low complexity region 289 303 N/A INTRINSIC
low complexity region 361 459 N/A INTRINSIC
low complexity region 474 486 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1d T A 14: 29,836,190 (GRCm39) M853L probably benign Het
Cacna2d1 C T 5: 16,524,448 (GRCm39) probably null Het
Capg G T 6: 72,534,733 (GRCm39) E187* probably null Het
Carns1 C T 19: 4,219,979 (GRCm39) A419T probably benign Het
Cpt1b A G 15: 89,305,027 (GRCm39) M407T probably benign Het
Dlg2 A T 7: 91,521,582 (GRCm39) probably null Het
Ep400 T C 5: 110,845,084 (GRCm39) probably benign Het
Epha4 T C 1: 77,360,186 (GRCm39) N704D probably damaging Het
Gga2 A G 7: 121,601,411 (GRCm39) S231P probably damaging Het
Gpbp1l1 A G 4: 116,438,572 (GRCm39) K223E probably damaging Het
Homer1 A T 13: 93,528,233 (GRCm39) N78I possibly damaging Het
Lmbr1 C T 5: 29,528,859 (GRCm39) V122M probably damaging Het
Mpeg1 C A 19: 12,439,469 (GRCm39) A309E probably damaging Het
Neto1 A G 18: 86,479,371 (GRCm39) I186M probably benign Het
Nfasc T C 1: 132,532,952 (GRCm39) D668G probably damaging Het
Nlrc5 T C 8: 95,247,927 (GRCm39) probably null Het
Or1j11 A T 2: 36,311,556 (GRCm39) I49F probably damaging Het
Or5b124 T G 19: 13,611,055 (GRCm39) N193K probably damaging Het
Or8c11 G A 9: 38,289,200 (GRCm39) V2I probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prkdc T C 16: 15,570,628 (GRCm39) S2304P probably damaging Het
Sgsm3 T C 15: 80,895,546 (GRCm39) I699T probably damaging Het
Slc8b1 T C 5: 120,671,067 (GRCm39) F551S probably damaging Het
Stra6 TC T 9: 58,058,705 (GRCm39) probably null Het
Tlr3 T C 8: 45,851,650 (GRCm39) probably null Het
Tnfrsf22 T C 7: 143,194,493 (GRCm39) T145A possibly damaging Het
Trp63 A T 16: 25,684,090 (GRCm39) T326S probably damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Vmn1r234 A T 17: 21,449,604 (GRCm39) M173L probably benign Het
Vmn2r13 T G 5: 109,304,425 (GRCm39) I669L probably benign Het
Vwa5a G A 9: 38,645,174 (GRCm39) G420R probably null Het
Other mutations in Myo18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Myo18a APN 11 77,738,764 (GRCm39) missense probably damaging 1.00
IGL00753:Myo18a APN 11 77,715,977 (GRCm39) missense probably damaging 1.00
IGL01137:Myo18a APN 11 77,718,655 (GRCm39) missense probably damaging 1.00
IGL01536:Myo18a APN 11 77,711,677 (GRCm39) missense probably damaging 1.00
IGL01642:Myo18a APN 11 77,755,558 (GRCm39) missense probably benign 0.07
IGL01728:Myo18a APN 11 77,668,682 (GRCm39) missense probably damaging 0.99
IGL01780:Myo18a APN 11 77,741,073 (GRCm39) missense probably benign 0.02
IGL02286:Myo18a APN 11 77,668,811 (GRCm39) nonsense probably null
IGL02350:Myo18a APN 11 77,741,073 (GRCm39) missense probably benign 0.02
IGL02357:Myo18a APN 11 77,741,073 (GRCm39) missense probably benign 0.02
IGL02420:Myo18a APN 11 77,709,519 (GRCm39) missense possibly damaging 0.81
IGL02643:Myo18a APN 11 77,668,998 (GRCm39) missense possibly damaging 0.67
IGL02667:Myo18a APN 11 77,748,678 (GRCm39) splice site probably benign
IGL02869:Myo18a APN 11 77,720,699 (GRCm39) splice site probably benign
IGL02869:Myo18a APN 11 77,755,612 (GRCm39) missense probably damaging 1.00
IGL02962:Myo18a APN 11 77,669,061 (GRCm39) missense probably damaging 1.00
IGL02963:Myo18a APN 11 77,732,844 (GRCm39) splice site probably benign
IGL03410:Myo18a APN 11 77,738,830 (GRCm39) missense probably damaging 0.99
IGL03050:Myo18a UTSW 11 77,709,596 (GRCm39) missense probably benign 0.00
R0022:Myo18a UTSW 11 77,734,059 (GRCm39) critical splice donor site probably null
R0064:Myo18a UTSW 11 77,738,170 (GRCm39) missense probably damaging 1.00
R0064:Myo18a UTSW 11 77,738,170 (GRCm39) missense probably damaging 1.00
R0098:Myo18a UTSW 11 77,736,591 (GRCm39) missense probably damaging 1.00
R0322:Myo18a UTSW 11 77,720,626 (GRCm39) missense probably damaging 1.00
R0373:Myo18a UTSW 11 77,711,868 (GRCm39) missense probably benign 0.01
R0379:Myo18a UTSW 11 77,741,632 (GRCm39) missense possibly damaging 0.84
R0513:Myo18a UTSW 11 77,702,420 (GRCm39) intron probably benign
R0688:Myo18a UTSW 11 77,714,966 (GRCm39) missense probably damaging 1.00
R0734:Myo18a UTSW 11 77,738,230 (GRCm39) missense probably damaging 1.00
R0790:Myo18a UTSW 11 77,731,535 (GRCm39) missense possibly damaging 0.95
R1099:Myo18a UTSW 11 77,709,727 (GRCm39) splice site probably null
R1103:Myo18a UTSW 11 77,714,156 (GRCm39) missense probably damaging 1.00
R1183:Myo18a UTSW 11 77,748,571 (GRCm39) missense probably damaging 1.00
R1216:Myo18a UTSW 11 77,709,473 (GRCm39) missense probably benign 0.35
R1331:Myo18a UTSW 11 77,732,405 (GRCm39) missense probably benign 0.28
R1479:Myo18a UTSW 11 77,733,020 (GRCm39) missense probably benign 0.04
R1723:Myo18a UTSW 11 77,744,140 (GRCm39) missense probably damaging 0.97
R1742:Myo18a UTSW 11 77,732,293 (GRCm39) missense probably damaging 0.99
R1796:Myo18a UTSW 11 77,720,170 (GRCm39) missense possibly damaging 0.94
R1823:Myo18a UTSW 11 77,715,923 (GRCm39) splice site probably benign
R1827:Myo18a UTSW 11 77,709,597 (GRCm39) missense probably benign 0.00
R2033:Myo18a UTSW 11 77,733,925 (GRCm39) splice site probably null
R2043:Myo18a UTSW 11 77,714,189 (GRCm39) missense probably damaging 0.99
R2105:Myo18a UTSW 11 77,741,060 (GRCm39) missense probably benign
R2191:Myo18a UTSW 11 77,709,441 (GRCm39) missense probably damaging 0.99
R2264:Myo18a UTSW 11 77,710,798 (GRCm39) splice site probably benign
R2370:Myo18a UTSW 11 77,668,596 (GRCm39) missense probably benign 0.03
R3015:Myo18a UTSW 11 77,749,846 (GRCm39) intron probably benign
R3433:Myo18a UTSW 11 77,708,870 (GRCm39) splice site probably null
R3739:Myo18a UTSW 11 77,736,441 (GRCm39) missense probably damaging 1.00
R3825:Myo18a UTSW 11 77,668,292 (GRCm39) missense possibly damaging 0.47
R4056:Myo18a UTSW 11 77,702,839 (GRCm39) missense possibly damaging 0.72
R4163:Myo18a UTSW 11 77,720,534 (GRCm39) missense possibly damaging 0.72
R4184:Myo18a UTSW 11 77,748,613 (GRCm39) missense probably damaging 1.00
R4620:Myo18a UTSW 11 77,708,773 (GRCm39) missense possibly damaging 0.93
R4628:Myo18a UTSW 11 77,714,962 (GRCm39) missense probably damaging 1.00
R4647:Myo18a UTSW 11 77,708,776 (GRCm39) missense probably damaging 1.00
R4701:Myo18a UTSW 11 77,708,491 (GRCm39) missense probably damaging 1.00
R4729:Myo18a UTSW 11 77,668,511 (GRCm39) splice site probably null
R4731:Myo18a UTSW 11 77,720,585 (GRCm39) missense probably benign 0.00
R4739:Myo18a UTSW 11 77,714,149 (GRCm39) missense probably damaging 1.00
R4814:Myo18a UTSW 11 77,750,062 (GRCm39) intron probably benign
R4889:Myo18a UTSW 11 77,723,238 (GRCm39) missense probably damaging 1.00
R4988:Myo18a UTSW 11 77,736,347 (GRCm39) critical splice donor site probably null
R5172:Myo18a UTSW 11 77,714,924 (GRCm39) missense probably damaging 1.00
R5177:Myo18a UTSW 11 77,755,668 (GRCm39) utr 3 prime probably benign
R5394:Myo18a UTSW 11 77,744,176 (GRCm39) missense probably benign 0.14
R5643:Myo18a UTSW 11 77,745,513 (GRCm39) missense probably benign 0.12
R5808:Myo18a UTSW 11 77,720,127 (GRCm39) missense probably benign 0.34
R5871:Myo18a UTSW 11 77,723,306 (GRCm39) missense probably damaging 1.00
R5936:Myo18a UTSW 11 77,709,039 (GRCm39) missense probably damaging 1.00
R6017:Myo18a UTSW 11 77,732,349 (GRCm39) missense probably damaging 0.96
R6053:Myo18a UTSW 11 77,709,002 (GRCm39) missense probably damaging 1.00
R6271:Myo18a UTSW 11 77,711,635 (GRCm39) missense probably damaging 1.00
R6558:Myo18a UTSW 11 77,741,678 (GRCm39) missense probably damaging 0.99
R6884:Myo18a UTSW 11 77,709,875 (GRCm39) missense possibly damaging 0.67
R6983:Myo18a UTSW 11 77,736,341 (GRCm39) missense probably benign 0.06
R6993:Myo18a UTSW 11 77,749,900 (GRCm39) intron probably benign
R7071:Myo18a UTSW 11 77,714,653 (GRCm39) missense probably damaging 1.00
R7074:Myo18a UTSW 11 77,733,387 (GRCm39) missense probably benign 0.03
R7238:Myo18a UTSW 11 77,733,059 (GRCm39) missense probably damaging 0.96
R7328:Myo18a UTSW 11 77,698,737 (GRCm39) missense
R7527:Myo18a UTSW 11 77,734,406 (GRCm39) missense probably benign 0.00
R7598:Myo18a UTSW 11 77,738,172 (GRCm39) missense probably damaging 1.00
R7671:Myo18a UTSW 11 77,750,246 (GRCm39) missense
R7958:Myo18a UTSW 11 77,732,383 (GRCm39) missense probably damaging 1.00
R8098:Myo18a UTSW 11 77,736,227 (GRCm39) missense probably damaging 0.97
R8168:Myo18a UTSW 11 77,711,968 (GRCm39) missense probably damaging 0.99
R8318:Myo18a UTSW 11 77,714,215 (GRCm39) missense probably benign 0.02
R8685:Myo18a UTSW 11 77,745,520 (GRCm39) missense probably benign 0.00
R8778:Myo18a UTSW 11 77,714,150 (GRCm39) missense probably damaging 1.00
R9023:Myo18a UTSW 11 77,718,477 (GRCm39) missense probably damaging 1.00
R9059:Myo18a UTSW 11 77,668,899 (GRCm39) missense possibly damaging 0.78
R9186:Myo18a UTSW 11 77,749,847 (GRCm39) missense
R9321:Myo18a UTSW 11 77,733,370 (GRCm39) missense probably damaging 0.97
R9357:Myo18a UTSW 11 77,733,014 (GRCm39) missense probably damaging 1.00
R9407:Myo18a UTSW 11 77,709,596 (GRCm39) missense probably benign 0.00
R9430:Myo18a UTSW 11 77,709,410 (GRCm39) missense possibly damaging 0.64
R9576:Myo18a UTSW 11 77,709,827 (GRCm39) missense probably damaging 1.00
R9585:Myo18a UTSW 11 77,709,495 (GRCm39) missense probably benign 0.06
R9698:Myo18a UTSW 11 77,720,681 (GRCm39) missense probably damaging 0.99
R9743:Myo18a UTSW 11 77,723,304 (GRCm39) missense probably benign 0.10
R9777:Myo18a UTSW 11 77,733,080 (GRCm39) missense possibly damaging 0.94
Y5407:Myo18a UTSW 11 77,668,641 (GRCm39) missense probably benign 0.44
Z1177:Myo18a UTSW 11 77,732,821 (GRCm39) missense probably damaging 1.00
Z1187:Myo18a UTSW 11 77,744,643 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AAGTGTTCTTTGGCCCTGACC -3'
(R):5'- CTAAGAGCATGGCGTTCAGAGG -3'

Sequencing Primer
(F):5'- TGGCCCTGACCCTGTCC -3'
(R):5'- TTGGAGAGACTCTGCTTCGCC -3'
Posted On 2018-05-21