Incidental Mutation 'R4819:Myo5c'
ID 370058
Institutional Source Beutler Lab
Gene Symbol Myo5c
Ensembl Gene ENSMUSG00000033590
Gene Name myosin VC
Synonyms 9130003O20Rik
MMRRC Submission 042000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4819 (G1)
Quality Score 193
Status Not validated
Chromosome 9
Chromosomal Location 75139302-75212733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75199484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1364 (L1364Q)
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: L1364Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: L1364Q

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 noncoding transcript
Transcript: ENSMUST00000215620
Predicted Effect probably benign
Transcript: ENSMUST00000216788
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Adgrf3 T A 5: 30,403,442 (GRCm39) L444F possibly damaging Het
Akap8 G A 17: 32,531,279 (GRCm39) R378W probably damaging Het
Amotl2 C T 9: 102,607,270 (GRCm39) R693W probably damaging Het
As3mt G T 19: 46,695,968 (GRCm39) probably benign Het
Atp6v1e2 A G 17: 87,251,966 (GRCm39) V144A probably benign Het
Bfar C T 16: 13,505,331 (GRCm39) Q114* probably null Het
Casd1 C T 6: 4,621,225 (GRCm39) A261V probably damaging Het
Cd177 A T 7: 24,451,696 (GRCm39) I440K probably damaging Het
Cfap54 G T 10: 92,672,339 (GRCm39) Y2910* probably null Het
Csl A G 10: 99,593,944 (GRCm39) F374L possibly damaging Het
Dctn1 G A 6: 83,167,501 (GRCm39) R275H probably damaging Het
Derl3 A G 10: 75,729,713 (GRCm39) probably null Het
Dst A G 1: 34,007,916 (GRCm39) I117V probably benign Het
Edc3 T A 9: 57,655,680 (GRCm39) C477S possibly damaging Het
Efs T C 14: 55,154,610 (GRCm39) E450G probably damaging Het
Fcrla T A 1: 170,748,508 (GRCm39) I212F probably damaging Het
Fsip2 A G 2: 82,818,786 (GRCm39) I4840V probably benign Het
Gpam T A 19: 55,066,773 (GRCm39) I581F probably benign Het
Greb1l A G 18: 10,458,358 (GRCm39) D45G probably damaging Het
Heca A G 10: 17,783,820 (GRCm39) Y478H probably damaging Het
Hspa9 C T 18: 35,072,441 (GRCm39) M561I probably damaging Het
Hyal6 T A 6: 24,734,965 (GRCm39) Y299* probably null Het
Iho1 A G 9: 108,283,877 (GRCm39) V189A probably benign Het
Ik T A 18: 36,886,310 (GRCm39) probably null Het
Khsrp A G 17: 57,330,360 (GRCm39) S582P possibly damaging Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Krt1c T C 15: 101,719,979 (GRCm39) T564A unknown Het
Lig4 A G 8: 10,021,885 (GRCm39) S632P probably benign Het
Med1 C T 11: 98,046,258 (GRCm39) probably benign Het
Mgat3 T A 15: 80,096,550 (GRCm39) I459N probably damaging Het
Mkln1 A T 6: 31,451,421 (GRCm39) Q454L probably benign Het
Mn1 A G 5: 111,567,803 (GRCm39) E591G possibly damaging Het
Oas1d T C 5: 121,053,780 (GRCm39) V80A probably damaging Het
Obscn A T 11: 58,929,674 (GRCm39) D5180E probably damaging Het
Pax6 G A 2: 105,522,622 (GRCm39) probably null Het
Pcdh15 A C 10: 74,160,221 (GRCm39) N446T probably damaging Het
Pcnx2 A T 8: 126,581,969 (GRCm39) F922L probably benign Het
Ptpn4 G T 1: 119,587,580 (GRCm39) T921K probably benign Het
Selenov A G 7: 27,989,746 (GRCm39) probably null Het
Tmem100 A G 11: 89,926,271 (GRCm39) T33A probably benign Het
Tmem59 C T 4: 107,044,878 (GRCm39) Q66* probably null Het
Trav21-dv12 T A 14: 54,114,070 (GRCm39) Y63* probably null Het
Trim66 G T 7: 109,056,793 (GRCm39) H1121Q probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Ttc17 G A 2: 94,194,955 (GRCm39) P520L probably damaging Het
Ttn A T 2: 76,622,093 (GRCm39) V15483E probably damaging Het
Vinac1 G T 2: 128,882,721 (GRCm39) N98K probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp281 A G 1: 136,553,448 (GRCm39) H142R probably benign Het
Zfp462 G T 4: 55,060,044 (GRCm39) R1190L probably damaging Het
Zfp935 T A 13: 62,602,231 (GRCm39) H323L 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
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'- TTCAGGCAAAATCTTTTCTGCC -3'
(R):5'- GCTTCAAGCTAGGGAAGAAGCC -3'

Sequencing Primer
(F):5'- GGCAAAATCTTTTCTGCCTGTATCAG -3'
(R):5'- AGAGAAAGGCCAGCCCTGC -3'
Posted On 2016-02-04