Incidental Mutation 'IGL02869:Myo18a'
ID362473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo18a
Ensembl Gene ENSMUSG00000000631
Gene Namemyosin XVIIIA
SynonymsMyoPDZ
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02869
Quality Score
Status
Chromosome11
Chromosomal Location77763246-77865980 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77864786 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 1983 (Y1983C)
Ref Sequence ENSEMBL: ENSMUSP00000104013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000645] [ENSMUST00000092884] [ENSMUST00000092887] [ENSMUST00000100794] [ENSMUST00000102488] [ENSMUST00000108375] [ENSMUST00000108376] [ENSMUST00000130305] [ENSMUST00000130627] [ENSMUST00000164334] [ENSMUST00000167856] [ENSMUST00000168348] [ENSMUST00000169105] [ENSMUST00000172303]
Predicted Effect probably benign
Transcript: ENSMUST00000000645
AA Change: Y2021C

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000645
Gene: ENSMUSG00000000631
AA Change: Y2021C

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 possibly damaging
Transcript: ENSMUST00000092884
AA Change: Y1689C

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090560
Gene: ENSMUSG00000000631
AA Change: Y1689C

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 possibly damaging
Transcript: ENSMUST00000092887
AA Change: Y2020C

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090563
Gene: ENSMUSG00000000631
AA Change: Y2020C

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 possibly damaging
Transcript: ENSMUST00000100794
AA Change: Y1685C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098358
Gene: ENSMUSG00000000631
AA Change: Y1685C

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 possibly damaging
Transcript: ENSMUST00000102488
AA Change: Y2020C

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099546
Gene: ENSMUSG00000000631
AA Change: Y2020C

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 possibly damaging
Transcript: ENSMUST00000108375
AA Change: Y2035C

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104012
Gene: ENSMUSG00000000631
AA Change: Y2035C

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 damaging
Transcript: ENSMUST00000108376
AA Change: Y1983C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104013
Gene: ENSMUSG00000000631
AA Change: Y1983C

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 possibly damaging
Transcript: ENSMUST00000130305
AA Change: Y1701C

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119574
Gene: ENSMUSG00000000631
AA Change: Y1701C

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 possibly damaging
Transcript: ENSMUST00000130627
AA Change: Y2047C

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119839
Gene: ENSMUSG00000000631
AA Change: Y2047C

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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142571
Predicted Effect possibly damaging
Transcript: ENSMUST00000164334
AA Change: Y1704C

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131771
Gene: ENSMUSG00000000631
AA Change: Y1704C

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 possibly damaging
Transcript: ENSMUST00000167856
AA Change: Y1627C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128487
Gene: ENSMUSG00000000631
AA Change: Y1627C

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: ENSMUST00000168348
AA Change: Y2068C

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130696
Gene: ENSMUSG00000000631
AA Change: Y2068C

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 probably benign
Transcript: ENSMUST00000169105
AA Change: Y2032C

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132149
Gene: ENSMUSG00000000631
AA Change: Y2032C

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: Y1707C

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129098
Gene: ENSMUSG00000000631
AA Change: Y1707C

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
Coding Region Coverage
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 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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,867,459 S1142T possibly damaging Het
5330417C22Rik A G 3: 108,472,866 I309T probably benign Het
Actr3b T G 5: 25,832,435 V215G probably damaging Het
Adam9 C T 8: 24,970,618 V617M probably damaging Het
Adgrl2 G T 3: 148,890,605 P32T probably damaging Het
Ago3 A T 4: 126,367,787 probably benign Het
Allc A C 12: 28,573,207 I20M probably benign Het
Asic3 G A 5: 24,416,974 W361* probably null Het
Atf7ip A G 6: 136,606,579 K1203E probably damaging Het
Babam2 C A 5: 32,004,772 H272Q possibly damaging Het
Baz2b G A 2: 59,977,528 T129I probably benign Het
C130073F10Rik A T 4: 101,890,393 Y146* probably null Het
C530008M17Rik A G 5: 76,859,043 K1084E unknown Het
Cd247 A G 1: 165,857,417 E74G probably damaging Het
Cdh17 A T 4: 11,814,908 Q778L probably benign Het
Ceacam1 T C 7: 25,476,541 D76G probably benign Het
Cela3a T C 4: 137,403,834 K198E probably benign Het
Ces2a T A 8: 104,739,059 D281E probably damaging Het
Cetn2 A T X: 72,914,921 D116E probably damaging Het
Ctu2 G T 8: 122,478,791 probably null Het
Cybb T C X: 9,442,589 N469D probably benign Het
Cygb C T 11: 116,649,923 R79Q probably damaging Het
Cyp2d10 C T 15: 82,403,868 V186M possibly damaging Het
Defb29 T A 2: 152,539,022 probably null Het
Depdc7 T G 2: 104,730,349 Q100P probably damaging Het
Dhx30 A C 9: 110,097,183 I91R probably damaging Het
Dnm1l T A 16: 16,341,424 K105* probably null Het
Efhc1 T C 1: 20,967,343 I248T probably damaging Het
Entpd2 A G 2: 25,398,108 T115A probably damaging Het
Epb42 G T 2: 121,025,746 A439E probably benign Het
Epp13 T C 7: 6,269,899 probably benign Het
Esm1 T G 13: 113,210,084 L81R probably damaging Het
F8 T C X: 75,287,381 S968G probably benign Het
Fam234b T G 6: 135,225,203 Y308D probably damaging Het
Fbxo46 T G 7: 19,137,214 V586G probably damaging Het
Foxp1 C A 6: 98,930,083 probably benign Het
Gm10754 A T 10: 97,682,274 probably benign Het
Gm12355 T A 11: 98,625,320 R76* probably null Het
Gm12695 A C 4: 96,762,133 probably benign Het
Gm438 T C 4: 144,786,368 I54V probably benign Het
Gm5468 T C 15: 25,414,640 probably benign Het
Grhl1 T C 12: 24,581,491 S66P probably damaging Het
Gstt3 A T 10: 75,776,742 probably null Het
Gtf2i A G 5: 134,279,427 probably benign Het
Gzmk C A 13: 113,172,026 G175C probably damaging Het
Helz2 T C 2: 181,231,146 probably benign Het
Ift20 T C 11: 78,539,954 probably benign Het
Intu A G 3: 40,687,786 D491G probably damaging Het
Itch G T 2: 155,173,933 probably null Het
Itgb5 A G 16: 33,844,992 N26S possibly damaging Het
Lama2 A T 10: 27,015,538 S2526R probably damaging Het
Lat2 A G 5: 134,608,173 I40T probably damaging Het
Lipa T A 19: 34,493,997 M393L probably benign Het
Lipa G T 19: 34,493,971 probably benign Het
Lpcat1 T A 13: 73,484,298 L10H probably damaging Het
Lpcat3 T C 6: 124,703,007 Y348H possibly damaging Het
Lrp1b A T 2: 40,701,830 N50K unknown Het
Lrrk2 T A 15: 91,750,277 Y1415N probably damaging Het
Lsamp A T 16: 42,144,715 T312S probably benign Het
Man2a2 T C 7: 80,363,941 E454G probably benign Het
Mcm3 T C 1: 20,808,839 K570R probably damaging Het
Mctp2 C A 7: 72,228,471 probably null Het
Msantd2 T G 9: 37,523,500 C345W probably damaging Het
Musk T C 4: 58,354,078 I362T probably benign Het
Myh15 A T 16: 49,145,404 N1224I probably benign Het
Myrfl G T 10: 116,829,004 Q374K probably damaging Het
Ndrg1 T A 15: 66,946,497 Q87H probably benign Het
Nol9 G A 4: 152,046,573 C351Y probably damaging Het
Nr5a1 A G 2: 38,708,129 S219P probably benign Het
Olfr902 T C 9: 38,449,193 F107S possibly damaging Het
Olfr945 A T 9: 39,258,224 Y149* probably null Het
Pcdhb19 A G 18: 37,498,637 D495G probably damaging Het
Pfkm A G 15: 98,128,242 M573V probably damaging Het
Plec A T 15: 76,181,316 L1586Q probably damaging Het
Prelp C A 1: 133,915,267 E47* probably null Het
Rbm33 T A 5: 28,410,755 I32N probably damaging Het
Rgs12 A T 5: 35,025,883 D310V probably damaging Het
Ripor2 A C 13: 24,696,529 H404P possibly damaging Het
Sh3d21 T C 4: 126,162,241 E124G probably benign Het
Shroom2 C T X: 152,659,553 S872N probably benign Het
Slc44a5 A G 3: 154,251,014 Y301C probably damaging Het
Smap1 A T 1: 23,891,914 H66Q possibly damaging Het
Smyd1 G T 6: 71,221,023 probably benign Het
Spata5 G T 3: 37,464,545 G743W probably damaging Het
Sptbn4 T A 7: 27,394,148 probably benign Het
Stag3 A G 5: 138,282,693 K49R probably damaging Het
Stim1 C A 7: 102,268,551 A46E unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tbc1d19 A G 5: 53,835,217 T114A probably benign Het
Tln2 G A 9: 67,221,525 probably benign Het
Tmem2 T A 19: 21,811,877 D558E probably damaging Het
Trmt10a T A 3: 138,152,184 probably null Het
Vwde G A 6: 13,187,137 H784Y probably damaging Het
Zfp773 T C 7: 7,134,233 T121A probably benign Het
Other mutations in Myo18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Myo18a APN 11 77847938 missense probably damaging 1.00
IGL00753:Myo18a APN 11 77825151 missense probably damaging 1.00
IGL01137:Myo18a APN 11 77827829 missense probably damaging 1.00
IGL01536:Myo18a APN 11 77820851 missense probably damaging 1.00
IGL01642:Myo18a APN 11 77864732 missense probably benign 0.07
IGL01728:Myo18a APN 11 77777856 missense probably damaging 0.99
IGL01780:Myo18a APN 11 77850247 missense probably benign 0.02
IGL02286:Myo18a APN 11 77777985 nonsense probably null
IGL02350:Myo18a APN 11 77850247 missense probably benign 0.02
IGL02357:Myo18a APN 11 77850247 missense probably benign 0.02
IGL02420:Myo18a APN 11 77818693 missense possibly damaging 0.81
IGL02643:Myo18a APN 11 77778172 missense possibly damaging 0.67
IGL02667:Myo18a APN 11 77857852 splice site probably benign
IGL02869:Myo18a APN 11 77829873 splice site probably benign
IGL02962:Myo18a APN 11 77778235 missense probably damaging 1.00
IGL02963:Myo18a APN 11 77842018 splice site probably benign
IGL03410:Myo18a APN 11 77848004 missense probably damaging 0.99
IGL03050:Myo18a UTSW 11 77818770 missense probably benign 0.00
R0022:Myo18a UTSW 11 77843233 critical splice donor site probably null
R0064:Myo18a UTSW 11 77847344 missense probably damaging 1.00
R0064:Myo18a UTSW 11 77847344 missense probably damaging 1.00
R0098:Myo18a UTSW 11 77845765 missense probably damaging 1.00
R0322:Myo18a UTSW 11 77829800 missense probably damaging 1.00
R0373:Myo18a UTSW 11 77821042 missense probably benign 0.01
R0379:Myo18a UTSW 11 77850806 missense possibly damaging 0.84
R0513:Myo18a UTSW 11 77811594 intron probably benign
R0688:Myo18a UTSW 11 77824140 missense probably damaging 1.00
R0734:Myo18a UTSW 11 77847404 missense probably damaging 1.00
R0790:Myo18a UTSW 11 77840709 missense possibly damaging 0.95
R1099:Myo18a UTSW 11 77818901 splice site probably null
R1103:Myo18a UTSW 11 77823330 missense probably damaging 1.00
R1183:Myo18a UTSW 11 77857745 missense probably damaging 1.00
R1216:Myo18a UTSW 11 77818647 missense probably benign 0.35
R1331:Myo18a UTSW 11 77841579 missense probably benign 0.28
R1479:Myo18a UTSW 11 77842194 missense probably benign 0.04
R1723:Myo18a UTSW 11 77853314 missense probably damaging 0.97
R1742:Myo18a UTSW 11 77841467 missense probably damaging 0.99
R1796:Myo18a UTSW 11 77829344 missense possibly damaging 0.94
R1823:Myo18a UTSW 11 77825097 splice site probably benign
R1827:Myo18a UTSW 11 77818771 missense probably benign 0.00
R2033:Myo18a UTSW 11 77843099 splice site probably null
R2043:Myo18a UTSW 11 77823363 missense probably damaging 0.99
R2105:Myo18a UTSW 11 77850234 missense probably benign
R2191:Myo18a UTSW 11 77818615 missense probably damaging 0.99
R2264:Myo18a UTSW 11 77819972 splice site probably benign
R2370:Myo18a UTSW 11 77777770 missense probably benign 0.03
R3015:Myo18a UTSW 11 77859020 intron probably benign
R3433:Myo18a UTSW 11 77818044 intron probably null
R3739:Myo18a UTSW 11 77845615 missense probably damaging 1.00
R3825:Myo18a UTSW 11 77777466 missense possibly damaging 0.47
R4056:Myo18a UTSW 11 77812013 missense possibly damaging 0.72
R4163:Myo18a UTSW 11 77829708 missense possibly damaging 0.72
R4184:Myo18a UTSW 11 77857787 missense probably damaging 1.00
R4620:Myo18a UTSW 11 77817947 missense possibly damaging 0.93
R4628:Myo18a UTSW 11 77824136 missense probably damaging 1.00
R4647:Myo18a UTSW 11 77817950 missense probably damaging 1.00
R4701:Myo18a UTSW 11 77817665 missense probably damaging 1.00
R4729:Myo18a UTSW 11 77777685 unclassified probably null
R4731:Myo18a UTSW 11 77829759 missense probably benign 0.00
R4739:Myo18a UTSW 11 77823323 missense probably damaging 1.00
R4814:Myo18a UTSW 11 77859236 intron probably benign
R4889:Myo18a UTSW 11 77832412 missense probably damaging 1.00
R4988:Myo18a UTSW 11 77845521 critical splice donor site probably null
R5172:Myo18a UTSW 11 77824098 missense probably damaging 1.00
R5177:Myo18a UTSW 11 77864842 utr 3 prime probably benign
R5394:Myo18a UTSW 11 77853350 missense probably benign 0.14
R5643:Myo18a UTSW 11 77854687 missense probably benign 0.12
R5808:Myo18a UTSW 11 77829301 missense probably benign 0.34
R5871:Myo18a UTSW 11 77832480 missense probably damaging 1.00
R5936:Myo18a UTSW 11 77818213 missense probably damaging 1.00
R6017:Myo18a UTSW 11 77841523 missense probably damaging 0.96
R6053:Myo18a UTSW 11 77818176 missense probably damaging 1.00
R6271:Myo18a UTSW 11 77820809 missense probably damaging 1.00
R6486:Myo18a UTSW 11 77864822 missense possibly damaging 0.83
R6558:Myo18a UTSW 11 77850852 missense probably damaging 0.99
R6884:Myo18a UTSW 11 77819049 missense possibly damaging 0.67
R6983:Myo18a UTSW 11 77845515 missense probably benign 0.06
R6993:Myo18a UTSW 11 77859074 intron probably benign
R7071:Myo18a UTSW 11 77823827 missense probably damaging 1.00
R7074:Myo18a UTSW 11 77842561 missense probably benign 0.03
R7238:Myo18a UTSW 11 77842233 missense probably damaging 0.96
R7328:Myo18a UTSW 11 77807911 missense
R7527:Myo18a UTSW 11 77843580 missense probably benign 0.00
R7598:Myo18a UTSW 11 77847346 missense probably damaging 1.00
R7671:Myo18a UTSW 11 77859420 missense
Y5407:Myo18a UTSW 11 77777815 missense probably benign 0.44
Posted On2015-12-18