Incidental Mutation 'R1800:Myo5c'
ID 203046
Institutional Source Beutler Lab
Gene Symbol Myo5c
Ensembl Gene ENSMUSG00000033590
Gene Name myosin VC
Synonyms 9130003O20Rik
MMRRC Submission 039830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1800 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 75139302-75212733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75153446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 111 (Y111H)
Ref Sequence ENSEMBL: ENSMUSP00000042229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036555] [ENSMUST00000216788]
AlphaFold E9Q1F5
Predicted Effect probably damaging
Transcript: ENSMUST00000036555
AA Change: Y111H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: Y111H

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 probably damaging
Transcript: ENSMUST00000216788
AA Change: Y111H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,479 (GRCm39) K556R probably damaging Het
4933406P04Rik A T 10: 20,186,893 (GRCm39) probably benign Het
Acmsd C A 1: 127,687,493 (GRCm39) Y258* probably null Het
Adgrf5 A T 17: 43,761,973 (GRCm39) I1223F probably damaging Het
Afp C T 5: 90,638,655 (GRCm39) P6S probably benign Het
Agap2 C A 10: 126,927,540 (GRCm39) H1120Q probably damaging Het
Angpt1 A G 15: 42,375,800 (GRCm39) V152A probably damaging Het
Ankrd1 A T 19: 36,096,759 (GRCm39) F23I probably damaging Het
Armc12 T C 17: 28,757,869 (GRCm39) S334P possibly damaging Het
Arnt2 C A 7: 83,924,583 (GRCm39) D415Y probably damaging Het
Cacna1s G T 1: 136,004,592 (GRCm39) V131L probably benign Het
Cacna2d2 T C 9: 107,404,632 (GRCm39) V1141A possibly damaging Het
Cfap61 T C 2: 145,884,542 (GRCm39) L580P probably damaging Het
Chga A T 12: 102,522,164 (GRCm39) S23C probably damaging Het
Chrna5 A G 9: 54,912,159 (GRCm39) T320A probably damaging Het
Col17a1 G T 19: 47,639,301 (GRCm39) N1081K possibly damaging Het
Cox7b2 A T 5: 71,600,406 (GRCm39) C51S possibly damaging Het
Cstdc3 T A 16: 36,132,895 (GRCm39) D57E probably damaging Het
Cwc22 A T 2: 77,759,797 (GRCm39) D83E possibly damaging Het
D130043K22Rik A C 13: 25,067,877 (GRCm39) D871A probably damaging Het
Dab2 A T 15: 6,464,948 (GRCm39) M361L probably benign Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dnmbp A G 19: 43,890,159 (GRCm39) I536T probably benign Het
Ehmt1 A T 2: 24,774,302 (GRCm39) S43R probably damaging Het
Ercc5 T C 1: 44,212,540 (GRCm39) L666P probably benign Het
F5 A G 1: 164,010,403 (GRCm39) H378R probably damaging Het
Fat2 A T 11: 55,174,718 (GRCm39) N1998K probably damaging Het
Fbxo28 T C 1: 182,169,099 (GRCm39) D13G unknown Het
Fras1 T C 5: 96,857,741 (GRCm39) S2012P probably benign Het
Gm5624 T A 14: 44,799,302 (GRCm39) N41I probably damaging Het
Gm8104 A G 14: 42,959,028 (GRCm39) I73V possibly damaging Het
Gpr141b T C 13: 19,913,849 (GRCm39) noncoding transcript Het
Gpr68 G A 12: 100,845,167 (GRCm39) P126S probably damaging Het
Gucy1a2 A T 9: 3,582,685 (GRCm39) T156S possibly damaging Het
Hacl1 T A 14: 31,336,221 (GRCm39) Y429F probably damaging Het
Haus3 A C 5: 34,320,916 (GRCm39) L510R probably damaging Het
Helq C T 5: 100,921,990 (GRCm39) G738D probably benign Het
Hsd3b2 G C 3: 98,619,553 (GRCm39) P131A probably damaging Het
Il22ra1 G T 4: 135,475,471 (GRCm39) C247F probably benign Het
Ivl T C 3: 92,479,891 (GRCm39) E58G unknown Het
Kcnk9 G T 15: 72,417,948 (GRCm39) Q61K probably benign Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,490,198 (GRCm39) A1314S probably damaging Het
Lratd1 T C 12: 14,200,226 (GRCm39) Y167C probably damaging Het
Lrba A G 3: 86,259,175 (GRCm39) I1397V probably benign Het
Lrig3 T A 10: 125,832,920 (GRCm39) probably null Het
Lrrc36 A G 8: 106,176,397 (GRCm39) D378G probably damaging Het
Lrrc49 G A 9: 60,505,474 (GRCm39) T527I probably damaging Het
Map4k4 C A 1: 40,062,620 (GRCm39) T1195K probably damaging Het
Mrps33 G A 6: 39,779,429 (GRCm39) R89C probably damaging Het
Mtor T C 4: 148,547,349 (GRCm39) V444A probably benign Het
Myh2 A G 11: 67,079,764 (GRCm39) E1046G probably damaging Het
Myo15b G T 11: 115,771,335 (GRCm39) probably null Het
Ncoa4-ps A T 12: 119,225,506 (GRCm39) noncoding transcript Het
Ndufv2 G C 17: 66,390,481 (GRCm39) T163R probably damaging Het
Nf1 A G 11: 79,444,794 (GRCm39) N373S possibly damaging Het
Nwd2 A G 5: 63,962,917 (GRCm39) M834V probably benign Het
Ogfod2 T C 5: 124,253,019 (GRCm39) V343A probably damaging Het
Or11g2 C T 14: 50,856,143 (GRCm39) L155F probably benign Het
Or11j4 C A 14: 50,630,786 (GRCm39) S191* probably null Het
Or3a1b A T 11: 74,012,234 (GRCm39) T40S probably benign Het
Or4c115 T A 2: 88,928,050 (GRCm39) T74S probably benign Het
Or51ag1 T C 7: 103,155,248 (GRCm39) I302V possibly damaging Het
Or52ab2 T A 7: 102,969,621 (GRCm39) M1K probably null Het
Or8g34 A T 9: 39,373,410 (GRCm39) I228F probably damaging Het
Parp1 T A 1: 180,428,091 (GRCm39) probably null Het
Ppp3ca A T 3: 136,640,792 (GRCm39) I448F probably damaging Het
Prss44 T C 9: 110,646,272 (GRCm39) V333A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rars1 A C 11: 35,716,822 (GRCm39) D231E probably benign Het
Rfc1 T C 5: 65,421,722 (GRCm39) Y1059C probably damaging Het
Rilpl1 T A 5: 124,652,719 (GRCm39) I2F probably damaging Het
Sarm1 G T 11: 78,381,820 (GRCm39) A221E possibly damaging Het
Serpina3f A G 12: 104,183,665 (GRCm39) T176A probably damaging Het
Slc22a20 T C 19: 6,035,695 (GRCm39) E131G probably benign Het
Slc26a11 T C 11: 119,263,979 (GRCm39) V343A probably damaging Het
Slc2a4 A G 11: 69,837,133 (GRCm39) I9T probably benign Het
Slc39a6 G T 18: 24,718,259 (GRCm39) D599E probably damaging Het
Slc5a6 G T 5: 31,198,020 (GRCm39) S285* probably null Het
Spata9 A G 13: 76,125,760 (GRCm39) H81R probably benign Het
St7l A G 3: 104,826,812 (GRCm39) E436G probably damaging Het
Tecrl A G 5: 83,427,077 (GRCm39) I357T probably damaging Het
Thop1 C T 10: 80,909,043 (GRCm39) R25C probably damaging Het
Tmprss12 A G 15: 100,190,428 (GRCm39) E266G probably benign Het
Tpgs1 T A 10: 79,511,344 (GRCm39) V162D possibly damaging Het
Trpa1 C T 1: 14,944,648 (GRCm39) R1032Q probably benign Het
Tspan12 A G 6: 21,795,699 (GRCm39) Y164H probably damaging Het
Ubr4 T C 4: 139,135,274 (GRCm39) Y869H probably damaging Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Zan A T 5: 137,384,713 (GRCm39) S5104T unknown Het
Zfp318 T C 17: 46,722,980 (GRCm39) V1661A probably benign Het
Zfp365 C T 10: 67,724,772 (GRCm39) R372K probably damaging 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
IGL01735:Myo5c APN 9 75,208,720 (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
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
Predicted Primers PCR Primer
(F):5'- AGGTCCCTGAAACCAAAGGC -3'
(R):5'- AGCTTCCTTTCACTGTGAGGG -3'

Sequencing Primer
(F):5'- AGGCCAGCCATCTTGATTATG -3'
(R):5'- TCACTGTGAGGGCTGAGCAG -3'
Posted On 2014-06-23