Incidental Mutation 'R6996:Myo5c'
ID 544216
Institutional Source Beutler Lab
Gene Symbol Myo5c
Ensembl Gene ENSMUSG00000033590
Gene Name myosin VC
Synonyms 9130003O20Rik
MMRRC Submission 045102-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 75139302-75212733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75157746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 233 (I233T)
Ref Sequence ENSEMBL: ENSMUSP00000042229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036555] [ENSMUST00000216788]
AlphaFold E9Q1F5
Predicted Effect probably benign
Transcript: ENSMUST00000036555
AA Change: I233T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: I233T

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
AA Change: I233T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,296,517 (GRCm39) S310L probably damaging Het
Adamts16 C T 13: 70,946,157 (GRCm39) probably null Het
Arrb1 C A 7: 99,240,569 (GRCm39) D194E probably benign Het
Atp1a3 T C 7: 24,697,051 (GRCm39) D217G probably damaging Het
Bcar3 A G 3: 122,302,033 (GRCm39) I123V possibly damaging Het
Bdp1 G A 13: 100,180,321 (GRCm39) L1833F probably damaging Het
Cdc14a T C 3: 116,122,355 (GRCm39) Y155C probably damaging Het
Cdo1 C A 18: 46,853,380 (GRCm39) R126M possibly damaging Het
Cfap99 G T 5: 34,484,604 (GRCm39) R627L probably damaging Het
Efr3a T A 15: 65,720,030 (GRCm39) L369* probably null Het
Erich6 A C 3: 58,543,516 (GRCm39) F185V probably damaging Het
Fam186a T C 15: 99,853,374 (GRCm39) D122G unknown Het
Fank1 A G 7: 133,478,627 (GRCm39) I230M possibly damaging Het
Flg2 A T 3: 93,109,977 (GRCm39) E668D unknown Het
Flg2 A C 3: 93,110,256 (GRCm39) R761S unknown Het
Gabrr1 T C 4: 33,158,157 (GRCm39) L260P probably damaging Het
Gfm2 G A 13: 97,285,868 (GRCm39) R119K probably damaging Het
Gm14226 A G 2: 154,866,357 (GRCm39) T105A probably benign Het
Gm14496 A G 2: 181,637,997 (GRCm39) N357S probably damaging Het
Gm5916 G A 9: 36,039,935 (GRCm39) L18F probably benign Het
Golm1 A T 13: 59,790,058 (GRCm39) N247K probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Greb1 C T 12: 16,773,355 (GRCm39) A240T probably benign Het
Gtf3c6 T C 10: 40,125,774 (GRCm39) M148V probably benign Het
Guca1a T C 17: 47,706,102 (GRCm39) S126G probably benign Het
Hacl1 A T 14: 31,337,380 (GRCm39) I393N possibly damaging Het
Hddc3 A G 7: 79,993,498 (GRCm39) D68G possibly damaging Het
Hsfy2 T C 1: 56,675,569 (GRCm39) T323A possibly damaging Het
Kcng2 T C 18: 80,366,358 (GRCm39) probably benign Het
Kdm2a G T 19: 4,395,669 (GRCm39) P321T probably benign Het
Krt31 A G 11: 99,938,558 (GRCm39) V345A probably benign Het
Lrrc37 A T 11: 103,509,583 (GRCm39) L795* probably null Het
Mettl1 T C 10: 126,880,887 (GRCm39) S193P probably benign Het
Mme G A 3: 63,253,523 (GRCm39) D456N possibly damaging Het
Mmrn1 A G 6: 60,954,367 (GRCm39) T883A probably benign Het
Mphosph10 C G 7: 64,038,669 (GRCm39) E293Q probably benign Het
Muc16 C A 9: 18,557,193 (GRCm39) K3033N unknown Het
Myo16 C T 8: 10,619,496 (GRCm39) T1349M probably damaging Het
Or4p4b-ps1 A G 2: 88,454,189 (GRCm39) T181A unknown Het
Or52a33 T G 7: 103,289,065 (GRCm39) N94T probably benign Het
Or52ac1 A T 7: 104,246,018 (GRCm39) F123L probably benign Het
Or5b111 A T 19: 13,291,036 (GRCm39) S204R probably benign Het
Or5h22 A G 16: 58,894,555 (GRCm39) M296T probably benign Het
Or6c2 T A 10: 129,362,732 (GRCm39) V212E probably damaging Het
Or7c70 C A 10: 78,683,351 (GRCm39) V133L probably benign Het
Oxct2b A G 4: 123,011,480 (GRCm39) I467V probably benign Het
Parp1 A T 1: 180,414,936 (GRCm39) N425Y possibly damaging Het
Pcdhgc3 T A 18: 37,939,656 (GRCm39) V19D possibly damaging Het
Pfkl T A 10: 77,833,423 (GRCm39) I260F probably damaging Het
Pkd1l1 C T 11: 8,799,046 (GRCm39) G1789R probably damaging Het
Pla1a G A 16: 38,217,830 (GRCm39) A386V probably benign Het
Pml A G 9: 58,142,169 (GRCm39) L221P probably damaging Het
Rcn2 C T 9: 55,964,845 (GRCm39) Q268* probably null Het
Reps1 T A 10: 17,969,603 (GRCm39) D235E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sap30bp A G 11: 115,824,314 (GRCm39) probably benign Het
Scn1a A T 2: 66,118,075 (GRCm39) S1433T probably damaging Het
Sde2 T C 1: 180,678,754 (GRCm39) V6A probably benign Het
Sdk1 C A 5: 142,197,769 (GRCm39) R2141S probably benign Het
Setd2 T C 9: 110,379,640 (GRCm39) S1152P probably damaging Het
Slc26a2 C T 18: 61,334,926 (GRCm39) V176I probably damaging Het
Snx7 A G 3: 117,640,281 (GRCm39) I76T possibly damaging Het
Specc1l C A 10: 75,082,113 (GRCm39) A520D probably benign Het
Spop A G 11: 95,362,136 (GRCm39) T56A possibly damaging Het
Syne2 T A 12: 76,074,786 (GRCm39) D4576E probably damaging Het
Tas2r134 A C 2: 51,517,601 (GRCm39) M27L probably benign Het
Tecta A C 9: 42,278,082 (GRCm39) I1142S probably benign Het
Timm44 T C 8: 4,316,611 (GRCm39) D311G possibly damaging Het
Tmem123 C G 9: 7,791,071 (GRCm39) T124R possibly damaging Het
Tmem184b A T 15: 79,246,959 (GRCm39) L370Q probably benign Het
Trim25 T A 11: 88,890,329 (GRCm39) N5K probably benign Het
Vmn2r93 A G 17: 18,524,903 (GRCm39) Y187C probably damaging Het
Vpreb1a A G 16: 16,686,678 (GRCm39) Y71H probably damaging Het
Vpreb1b T C 16: 17,798,441 (GRCm39) S5P probably benign Het
Xpo7 A T 14: 70,906,888 (GRCm39) C939S probably benign Het
Zfp78 C A 7: 6,381,764 (GRCm39) S271R probably benign Het
Zic5 A T 14: 122,702,080 (GRCm39) M217K 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
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
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'- AGAACCAGGCTGCTCTTCTC -3'
(R):5'- CCAGGAGTCTGAGTATTTGGAGC -3'

Sequencing Primer
(F):5'- GCTCTTCTCCAGCTCCAAG -3'
(R):5'- TTCTCTTCAGGCACACTAGAAGAGG -3'
Posted On 2019-05-13