Incidental Mutation 'IGL01735:Myo5c'
ID 105655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo5c
Ensembl Gene ENSMUSG00000033590
Gene Name myosin VC
Synonyms 9130003O20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01735
Quality Score
Status
Chromosome 9
Chromosomal Location 75139302-75212733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75208720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1677 (D1677V)
Ref Sequence ENSEMBL: ENSMUSP00000042229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036555] [ENSMUST00000213990]
AlphaFold E9Q1F5
Predicted Effect probably damaging
Transcript: ENSMUST00000036555
AA Change: D1677V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: D1677V

DomainStartEndE-ValueType
MYSc 61 754 N/A SMART
IQ 755 777 1.11e-3 SMART
IQ 778 800 1.39e0 SMART
IQ 806 828 8.98e-4 SMART
IQ 829 851 4.19e-4 SMART
IQ 854 876 2.54e-3 SMART
coiled coil region 1160 1185 N/A INTRINSIC
coiled coil region 1207 1245 N/A INTRINSIC
DIL 1574 1679 5.54e-45 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213424
Predicted Effect probably benign
Transcript: ENSMUST00000213990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216529
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,251,213 (GRCm39) M612L probably benign Het
Adhfe1 C A 1: 9,618,373 (GRCm39) T19K possibly damaging Het
Atxn1 C T 13: 45,720,198 (GRCm39) V566M probably damaging Het
Bag6 T C 17: 35,364,737 (GRCm39) probably benign Het
Cdkl1 T G 12: 69,797,514 (GRCm39) Y258S probably benign Het
Chil6 A T 3: 106,296,004 (GRCm39) probably null Het
Clcn7 T C 17: 25,370,090 (GRCm39) F326L probably benign Het
Cngb3 A G 4: 19,415,648 (GRCm39) Y386C probably damaging Het
Dnah6 C A 6: 73,053,643 (GRCm39) E2916* probably null Het
Dnhd1 A G 7: 105,362,961 (GRCm39) E3841G probably benign Het
Fat1 G T 8: 45,489,276 (GRCm39) V3493L probably benign Het
Irx5 A T 8: 93,087,331 (GRCm39) H421L probably damaging Het
Kbtbd6 T C 14: 79,690,889 (GRCm39) V465A probably damaging Het
Kcp T A 6: 29,498,878 (GRCm39) N340I probably damaging Het
Klhdc2 A G 12: 69,347,053 (GRCm39) M73V probably benign Het
Lpar1 A G 4: 58,437,407 (GRCm39) S341P probably damaging Het
Lrba G A 3: 86,234,968 (GRCm39) V838I probably benign Het
Med12l A G 3: 59,170,675 (GRCm39) I1652V probably damaging Het
Ncoa2 A T 1: 13,235,127 (GRCm39) N935K probably benign Het
Nfrkb T C 9: 31,321,435 (GRCm39) S711P possibly damaging Het
Or1j20 C A 2: 36,759,698 (GRCm39) T40K possibly damaging Het
Or52ae7 T C 7: 103,119,530 (GRCm39) F95L probably damaging Het
Or5w16 A G 2: 87,576,650 (GRCm39) I37V probably benign Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Prl7d1 A G 13: 27,898,372 (GRCm39) F47L possibly damaging Het
Ptprd A C 4: 76,055,057 (GRCm39) probably null Het
Rsph14 C A 10: 74,860,992 (GRCm39) G103C probably damaging Het
Slco1a4 A G 6: 141,763,477 (GRCm39) F413S probably benign Het
Slfn9 A G 11: 82,873,158 (GRCm39) Y582H probably damaging Het
Tcirg1 A T 19: 3,954,210 (GRCm39) probably benign Het
Trac G A 14: 54,460,438 (GRCm39) probably benign Het
Wbp2nl G T 15: 82,198,017 (GRCm39) V185L probably benign Het
Other mutations in Myo5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Myo5c APN 9 75,150,162 (GRCm39) splice site probably benign
IGL00848:Myo5c APN 9 75,196,463 (GRCm39) missense probably benign
IGL01503:Myo5c APN 9 75,170,324 (GRCm39) missense probably damaging 1.00
IGL01866:Myo5c APN 9 75,176,864 (GRCm39) missense probably benign 0.00
IGL01956:Myo5c APN 9 75,150,158 (GRCm39) splice site probably null
IGL02127:Myo5c APN 9 75,208,184 (GRCm39) missense probably damaging 1.00
IGL02268:Myo5c APN 9 75,153,519 (GRCm39) missense probably damaging 1.00
IGL02272:Myo5c APN 9 75,173,442 (GRCm39) missense possibly damaging 0.73
IGL03052:Myo5c APN 9 75,159,798 (GRCm39) splice site probably benign
IGL03179:Myo5c APN 9 75,163,148 (GRCm39) missense possibly damaging 0.65
IGL03224:Myo5c APN 9 75,185,525 (GRCm39) missense probably benign 0.01
Marked UTSW 9 75,182,919 (GRCm39) critical splice donor site probably null
pixie UTSW 9 75,193,860 (GRCm39) missense probably benign 0.26
PIT4142001:Myo5c UTSW 9 75,191,230 (GRCm39) missense probably benign 0.00
PIT4431001:Myo5c UTSW 9 75,159,853 (GRCm39) missense possibly damaging 0.75
R0126:Myo5c UTSW 9 75,176,807 (GRCm39) missense probably benign 0.05
R0266:Myo5c UTSW 9 75,191,498 (GRCm39) splice site probably benign
R0345:Myo5c UTSW 9 75,204,701 (GRCm39) missense probably damaging 1.00
R0387:Myo5c UTSW 9 75,192,303 (GRCm39) splice site probably benign
R0602:Myo5c UTSW 9 75,173,478 (GRCm39) splice site probably null
R0675:Myo5c UTSW 9 75,185,571 (GRCm39) missense probably benign
R0798:Myo5c UTSW 9 75,165,266 (GRCm39) missense probably damaging 1.00
R0981:Myo5c UTSW 9 75,178,873 (GRCm39) missense probably damaging 1.00
R1051:Myo5c UTSW 9 75,198,165 (GRCm39) missense probably benign 0.00
R1072:Myo5c UTSW 9 75,199,490 (GRCm39) missense probably damaging 1.00
R1144:Myo5c UTSW 9 75,193,730 (GRCm39) missense probably damaging 1.00
R1454:Myo5c UTSW 9 75,170,348 (GRCm39) missense possibly damaging 0.94
R1476:Myo5c UTSW 9 75,183,221 (GRCm39) missense probably damaging 1.00
R1484:Myo5c UTSW 9 75,208,092 (GRCm39) missense probably damaging 1.00
R1586:Myo5c UTSW 9 75,174,313 (GRCm39) missense probably damaging 0.99
R1616:Myo5c UTSW 9 75,203,299 (GRCm39) missense probably damaging 1.00
R1635:Myo5c UTSW 9 75,184,357 (GRCm39) missense probably benign 0.09
R1800:Myo5c UTSW 9 75,153,446 (GRCm39) missense probably damaging 1.00
R1838:Myo5c UTSW 9 75,180,835 (GRCm39) missense probably damaging 1.00
R1840:Myo5c UTSW 9 75,157,017 (GRCm39) missense probably damaging 1.00
R1885:Myo5c UTSW 9 75,157,043 (GRCm39) missense probably damaging 1.00
R1897:Myo5c UTSW 9 75,199,523 (GRCm39) missense probably benign 0.20
R1898:Myo5c UTSW 9 75,204,908 (GRCm39) missense probably damaging 1.00
R2029:Myo5c UTSW 9 75,196,337 (GRCm39) unclassified probably benign
R2063:Myo5c UTSW 9 75,189,150 (GRCm39) missense probably benign 0.19
R2230:Myo5c UTSW 9 75,180,888 (GRCm39) missense probably benign
R2519:Myo5c UTSW 9 75,157,718 (GRCm39) missense probably damaging 1.00
R2520:Myo5c UTSW 9 75,204,931 (GRCm39) nonsense probably null
R3034:Myo5c UTSW 9 75,193,859 (GRCm39) missense probably benign 0.44
R3117:Myo5c UTSW 9 75,173,476 (GRCm39) critical splice donor site probably null
R3432:Myo5c UTSW 9 75,170,283 (GRCm39) missense probably damaging 1.00
R3751:Myo5c UTSW 9 75,183,284 (GRCm39) missense probably damaging 1.00
R4132:Myo5c UTSW 9 75,159,850 (GRCm39) missense probably benign 0.00
R4173:Myo5c UTSW 9 75,153,540 (GRCm39) missense probably damaging 1.00
R4239:Myo5c UTSW 9 75,191,224 (GRCm39) missense probably benign 0.01
R4429:Myo5c UTSW 9 75,201,283 (GRCm39) missense probably damaging 1.00
R4574:Myo5c UTSW 9 75,176,893 (GRCm39) missense probably benign 0.00
R4791:Myo5c UTSW 9 75,198,198 (GRCm39) missense probably damaging 1.00
R4804:Myo5c UTSW 9 75,152,306 (GRCm39) missense probably damaging 1.00
R4819:Myo5c UTSW 9 75,199,484 (GRCm39) missense probably damaging 0.97
R4881:Myo5c UTSW 9 75,191,434 (GRCm39) missense probably benign 0.00
R4900:Myo5c UTSW 9 75,180,825 (GRCm39) missense probably damaging 1.00
R4964:Myo5c UTSW 9 75,204,791 (GRCm39) missense possibly damaging 0.51
R4966:Myo5c UTSW 9 75,176,878 (GRCm39) missense probably benign 0.03
R5057:Myo5c UTSW 9 75,208,155 (GRCm39) missense probably damaging 1.00
R5347:Myo5c UTSW 9 75,202,487 (GRCm39) missense probably null 1.00
R5399:Myo5c UTSW 9 75,195,356 (GRCm39) missense possibly damaging 0.80
R5440:Myo5c UTSW 9 75,165,407 (GRCm39) missense possibly damaging 0.91
R5569:Myo5c UTSW 9 75,180,792 (GRCm39) missense probably damaging 1.00
R5600:Myo5c UTSW 9 75,196,436 (GRCm39) missense probably benign 0.00
R5606:Myo5c UTSW 9 75,182,790 (GRCm39) missense probably damaging 1.00
R5704:Myo5c UTSW 9 75,180,185 (GRCm39) missense probably benign 0.00
R5798:Myo5c UTSW 9 75,191,480 (GRCm39) missense probably benign 0.04
R5865:Myo5c UTSW 9 75,204,770 (GRCm39) missense probably damaging 0.97
R6034:Myo5c UTSW 9 75,163,187 (GRCm39) missense probably benign 0.05
R6034:Myo5c UTSW 9 75,163,187 (GRCm39) missense probably benign 0.05
R6143:Myo5c UTSW 9 75,157,091 (GRCm39) missense probably damaging 1.00
R6242:Myo5c UTSW 9 75,180,893 (GRCm39) missense probably benign
R6253:Myo5c UTSW 9 75,152,319 (GRCm39) missense probably damaging 1.00
R6264:Myo5c UTSW 9 75,182,836 (GRCm39) missense probably benign
R6307:Myo5c UTSW 9 75,180,198 (GRCm39) missense possibly damaging 0.73
R6358:Myo5c UTSW 9 75,203,294 (GRCm39) missense possibly damaging 0.53
R6450:Myo5c UTSW 9 75,193,860 (GRCm39) missense probably benign 0.26
R6598:Myo5c UTSW 9 75,153,516 (GRCm39) missense probably damaging 1.00
R6618:Myo5c UTSW 9 75,182,919 (GRCm39) critical splice donor site probably null
R6774:Myo5c UTSW 9 75,196,468 (GRCm39) missense probably benign 0.05
R6865:Myo5c UTSW 9 75,176,878 (GRCm39) missense probably benign 0.03
R6996:Myo5c UTSW 9 75,157,746 (GRCm39) missense probably benign 0.01
R7023:Myo5c UTSW 9 75,208,738 (GRCm39) missense probably damaging 0.98
R7123:Myo5c UTSW 9 75,196,505 (GRCm39) missense probably benign
R7250:Myo5c UTSW 9 75,169,497 (GRCm39) missense probably damaging 1.00
R7316:Myo5c UTSW 9 75,176,920 (GRCm39) missense probably benign 0.00
R7340:Myo5c UTSW 9 75,196,423 (GRCm39) missense probably benign
R7382:Myo5c UTSW 9 75,211,332 (GRCm39) missense probably damaging 1.00
R7426:Myo5c UTSW 9 75,158,809 (GRCm39) splice site probably null
R7788:Myo5c UTSW 9 75,186,627 (GRCm39) missense probably damaging 0.98
R7956:Myo5c UTSW 9 75,159,845 (GRCm39) missense probably benign
R8082:Myo5c UTSW 9 75,182,793 (GRCm39) missense possibly damaging 0.89
R8290:Myo5c UTSW 9 75,196,178 (GRCm39) missense probably benign 0.01
R8406:Myo5c UTSW 9 75,182,823 (GRCm39) missense probably damaging 1.00
R8481:Myo5c UTSW 9 75,208,726 (GRCm39) missense probably damaging 1.00
R8489:Myo5c UTSW 9 75,180,128 (GRCm39) missense probably damaging 0.98
R8505:Myo5c UTSW 9 75,153,423 (GRCm39) missense probably damaging 1.00
R8685:Myo5c UTSW 9 75,192,229 (GRCm39) missense possibly damaging 0.66
R8806:Myo5c UTSW 9 75,150,054 (GRCm39) missense probably damaging 1.00
R8871:Myo5c UTSW 9 75,185,585 (GRCm39) missense probably benign 0.10
R9323:Myo5c UTSW 9 75,153,531 (GRCm39) missense probably damaging 1.00
R9484:Myo5c UTSW 9 75,204,770 (GRCm39) missense probably damaging 0.99
R9639:Myo5c UTSW 9 75,165,477 (GRCm39) missense probably damaging 1.00
Z1088:Myo5c UTSW 9 75,152,341 (GRCm39) missense probably damaging 1.00
Z1177:Myo5c UTSW 9 75,153,537 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21