Incidental Mutation 'R7250:Myo5c'
ID 563849
Institutional Source Beutler Lab
Gene Symbol Myo5c
Ensembl Gene ENSMUSG00000033590
Gene Name myosin VC
Synonyms 9130003O20Rik
MMRRC Submission 045350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 75139302-75212733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75169497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 441 (T441A)
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: T441A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: T441A

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 benign
Transcript: ENSMUST00000216788
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Actl7b T A 4: 56,741,035 (GRCm39) M108L probably benign Het
Adgrf3 T A 5: 30,400,680 (GRCm39) I934L probably damaging Het
Adprm A G 11: 66,932,450 (GRCm39) V153A probably benign Het
Aif1l G A 2: 31,859,764 (GRCm39) V109M probably damaging Het
Asphd1 T A 7: 126,545,942 (GRCm39) E307V probably damaging Het
Ate1 T A 7: 130,121,701 (GRCm39) probably benign Het
Borcs7 A G 19: 46,688,047 (GRCm39) H64R probably damaging Het
C1qtnf1 A G 11: 118,339,176 (GRCm39) *282W probably null Het
Cacna1c A G 6: 118,574,966 (GRCm39) C1985R Het
Cacna1c A T 6: 118,673,412 (GRCm39) V647E Het
Cacna1d A G 14: 29,797,108 (GRCm39) S1497P probably damaging Het
Cacna1e T A 1: 154,576,235 (GRCm39) I133F possibly damaging Het
Ccdc63 A T 5: 122,260,906 (GRCm39) L206H probably damaging Het
Cenatac A G 9: 44,323,748 (GRCm39) probably null Het
Cspg4b T G 13: 113,455,349 (GRCm39) I465R Het
D430041D05Rik T C 2: 104,086,961 (GRCm39) T672A possibly damaging Het
D630045J12Rik G T 6: 38,119,546 (GRCm39) T1732K possibly damaging Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Ddx52 G A 11: 83,835,392 (GRCm39) G106D probably benign Het
Dock2 A G 11: 34,586,032 (GRCm39) V550A probably benign Het
Dock2 C T 11: 34,586,120 (GRCm39) D521N probably damaging Het
F13b T C 1: 139,444,227 (GRCm39) probably null Het
Fchsd2 A G 7: 100,908,892 (GRCm39) K431R possibly damaging Het
Fez1 C T 9: 36,779,090 (GRCm39) R256C probably damaging Het
Gjd4 T A 18: 9,280,391 (GRCm39) Q229L probably benign Het
Gpr45 T A 1: 43,071,531 (GRCm39) I58N probably damaging Het
Gstm1 T A 3: 107,923,709 (GRCm39) I99F probably damaging Het
Gtpbp8 T A 16: 44,564,225 (GRCm39) T149S probably damaging Het
H2-Ab1 A G 17: 34,486,481 (GRCm39) D180G probably damaging Het
Hdhd5 A G 6: 120,494,016 (GRCm39) I188T possibly damaging Het
Hfm1 T C 5: 107,052,197 (GRCm39) I300V probably benign Het
Hnrnpr T G 4: 136,059,746 (GRCm39) D283E probably benign Het
Hsp90b1 T C 10: 86,527,572 (GRCm39) E768G unknown Het
Kcna4 C A 2: 107,126,663 (GRCm39) Q466K possibly damaging Het
Kcnk6 A G 7: 28,931,619 (GRCm39) L97P probably benign Het
Kics2 T C 10: 121,581,376 (GRCm39) S126P possibly damaging Het
Klf5 A G 14: 99,536,455 (GRCm39) S9G probably benign Het
Kmt2c C A 5: 25,504,489 (GRCm39) K3606N probably damaging Het
Kmt2c T C 5: 25,514,805 (GRCm39) T3013A probably benign Het
Lancl1 A G 1: 67,048,458 (GRCm39) Y207H possibly damaging Het
Lipe G C 7: 25,088,085 (GRCm39) probably benign Het
Lrrc66 T A 5: 73,768,224 (GRCm39) H239L probably benign Het
Ltbp2 C T 12: 84,834,166 (GRCm39) W1441* probably null Het
Man2a1 T C 17: 64,943,583 (GRCm39) S213P probably benign Het
Mapre2 C T 18: 23,991,119 (GRCm39) A171V possibly damaging Het
Mdn1 T A 4: 32,695,427 (GRCm39) D1155E probably damaging Het
Mki67 T C 7: 135,301,053 (GRCm39) D1327G possibly damaging Het
Mx2 T C 16: 97,348,664 (GRCm39) I279T probably damaging Het
Nlrp9a T G 7: 26,258,143 (GRCm39) V587G possibly damaging Het
Npas2 A T 1: 39,377,188 (GRCm39) T517S probably damaging Het
Npy1r T C 8: 67,157,712 (GRCm39) S341P probably benign Het
Ntm A G 9: 29,322,988 (GRCm39) W11R probably benign Het
Nxpe2 A T 9: 48,238,096 (GRCm39) I53N possibly damaging Het
Onecut2 T C 18: 64,519,511 (GRCm39) F443L probably benign Het
Or10g6 T A 9: 39,934,050 (GRCm39) Y120* probably null Het
Or2r2 A G 6: 42,463,689 (GRCm39) V146A probably benign Het
Or52ac1 A T 7: 104,245,738 (GRCm39) Y217N probably damaging Het
Parp2 T A 14: 51,054,801 (GRCm39) V248E probably benign Het
Pcdh12 C A 18: 38,415,029 (GRCm39) V699L probably benign Het
Pja2 G A 17: 64,616,451 (GRCm39) P148L probably benign Het
Poglut3 C T 9: 53,301,821 (GRCm39) Q158* probably null Het
Ppip5k2 T G 1: 97,673,187 (GRCm39) D415A probably benign Het
Prss47 A G 13: 65,200,355 (GRCm39) S74P probably benign Het
Ptprg G T 14: 12,166,767 (GRCm38) M723I probably benign Het
Qsox2 A T 2: 26,118,444 (GRCm39) I109N probably damaging Het
Ranbp3l A G 15: 9,041,853 (GRCm39) E217G probably benign Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rgs12 T A 5: 35,122,841 (GRCm39) F208Y probably damaging Het
Rin3 C T 12: 102,334,893 (GRCm39) T268I unknown Het
Rttn T A 18: 89,007,647 (GRCm39) D427E probably benign Het
Samd13 G A 3: 146,352,079 (GRCm39) P91S probably benign Het
Samd9l T C 6: 3,374,201 (GRCm39) D1020G possibly damaging Het
Sec62 T G 3: 30,866,496 (GRCm39) L201V possibly damaging Het
Setdb1 C T 3: 95,261,852 (GRCm39) probably null Het
Sf3a3 A T 4: 124,616,708 (GRCm39) T197S probably benign Het
Slc20a1 A T 2: 129,051,844 (GRCm39) I618F possibly damaging Het
Slc38a3 A T 9: 107,533,865 (GRCm39) M186K probably benign Het
Slc39a13 T C 2: 90,893,503 (GRCm39) T319A probably benign Het
Slc44a4 T C 17: 35,137,520 (GRCm39) probably null Het
St3gal1 A C 15: 66,978,578 (GRCm39) D314E possibly damaging Het
Suclg1 A G 6: 73,248,074 (GRCm39) N265S probably benign Het
Sult2b1 A T 7: 45,433,361 (GRCm39) V2D unknown Het
Supv3l1 T A 10: 62,280,846 (GRCm39) I182F probably damaging Het
Tcp11l2 T C 10: 84,423,105 (GRCm39) probably null Het
Tenm2 C A 11: 35,963,625 (GRCm39) L935F probably damaging Het
Tnks T A 8: 35,318,912 (GRCm39) I790F probably damaging Het
Top2b C T 14: 16,420,411 (GRCm38) T1274I probably benign Het
Tpi1 A T 6: 124,789,441 (GRCm39) I178N probably damaging Het
Trav9d-1 A T 14: 53,030,153 (GRCm39) S86C probably damaging Het
Treml2 A G 17: 48,616,155 (GRCm39) E265G probably benign Het
Trpm7 A T 2: 126,668,685 (GRCm39) S744T possibly damaging Het
Usp33 T A 3: 152,097,999 (GRCm39) L909* probably null Het
Vcan A G 13: 89,869,805 (GRCm39) I210T probably damaging Het
Vcan A T 13: 89,879,576 (GRCm39) probably null Het
Vsig10l A T 7: 43,113,099 (GRCm39) D17V probably benign Het
Zbtb7b T A 3: 89,286,976 (GRCm39) T498S probably benign Het
Zfp366 T A 13: 99,366,076 (GRCm39) H412Q probably damaging Het
Zfp53 C A 17: 21,729,840 (GRCm39) D624E probably damaging Het
Zfp827 A T 8: 79,916,721 (GRCm39) D432V Het
Zic1 T C 9: 91,247,028 (GRCm39) T15A probably damaging Het
Zswim8 T C 14: 20,770,036 (GRCm39) C1368R 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
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
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'- TGACTGCCAGCTTAGAAGGAAC -3'
(R):5'- CAGGCATGCTTGGATTCCTG -3'

Sequencing Primer
(F):5'- GCTTTGAAGTAGTTTAAACTTGCCG -3'
(R):5'- CATGCTTGGATTCCTGAATGAG -3'
Posted On 2019-06-26