Incidental Mutation 'IGL02043:Myom3'
ID 184846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myom3
Ensembl Gene ENSMUSG00000037139
Gene Name myomesin family, member 3
Synonyms 8430427K15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02043
Quality Score
Status
Chromosome 4
Chromosomal Location 135487026-135542875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135497986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 189 (K189E)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
AlphaFold A2ABU4
Predicted Effect probably damaging
Transcript: ENSMUST00000105854
AA Change: K189E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: K189E

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 53 83 N/A INTRINSIC
coiled coil region 119 150 N/A INTRINSIC
IG 160 248 7.64e-9 SMART
IG 277 364 1.37e-1 SMART
FN3 374 457 4.8e-13 SMART
FN3 502 585 9.99e-11 SMART
FN3 603 684 1.74e-10 SMART
FN3 702 785 2.5e-11 SMART
FN3 804 887 7.73e-17 SMART
Blast:IG_like 904 1098 1e-100 BLAST
PDB:2JTD|A 1000 1105 4e-25 PDB
low complexity region 1107 1119 N/A INTRINSIC
IG 1127 1209 4.46e-1 SMART
IGc2 1349 1416 1.4e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Myom3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Myom3 APN 4 135,489,882 (GRCm39) missense possibly damaging 0.66
IGL01490:Myom3 APN 4 135,538,089 (GRCm39) missense possibly damaging 0.79
IGL01931:Myom3 APN 4 135,516,950 (GRCm39) missense probably benign 0.05
IGL01935:Myom3 APN 4 135,515,692 (GRCm39) missense probably damaging 1.00
IGL01939:Myom3 APN 4 135,492,900 (GRCm39) missense possibly damaging 0.95
IGL01981:Myom3 APN 4 135,513,160 (GRCm39) nonsense probably null
IGL01985:Myom3 APN 4 135,493,013 (GRCm39) critical splice donor site probably null
IGL02477:Myom3 APN 4 135,506,679 (GRCm39) missense probably benign 0.22
IGL02733:Myom3 APN 4 135,541,614 (GRCm39) nonsense probably null
IGL03253:Myom3 APN 4 135,510,408 (GRCm39) missense possibly damaging 0.85
BB008:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
BB018:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
R0359:Myom3 UTSW 4 135,505,454 (GRCm39) missense probably damaging 1.00
R0525:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0665:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0668:Myom3 UTSW 4 135,492,237 (GRCm39) missense possibly damaging 0.69
R0690:Myom3 UTSW 4 135,515,737 (GRCm39) splice site probably benign
R1235:Myom3 UTSW 4 135,516,854 (GRCm39) missense probably benign 0.09
R1692:Myom3 UTSW 4 135,502,862 (GRCm39) missense probably benign 0.00
R1793:Myom3 UTSW 4 135,538,066 (GRCm39) missense probably benign 0.42
R1859:Myom3 UTSW 4 135,506,707 (GRCm39) missense probably benign 0.01
R1863:Myom3 UTSW 4 135,505,348 (GRCm39) missense probably benign
R1876:Myom3 UTSW 4 135,506,711 (GRCm39) missense probably benign 0.01
R2103:Myom3 UTSW 4 135,503,723 (GRCm39) missense probably benign 0.05
R2152:Myom3 UTSW 4 135,530,544 (GRCm39) missense probably benign 0.05
R4633:Myom3 UTSW 4 135,503,010 (GRCm39) missense probably benign 0.00
R4726:Myom3 UTSW 4 135,534,586 (GRCm39) splice site probably null
R4884:Myom3 UTSW 4 135,510,366 (GRCm39) missense possibly damaging 0.90
R4943:Myom3 UTSW 4 135,541,585 (GRCm39) missense possibly damaging 0.73
R5040:Myom3 UTSW 4 135,516,970 (GRCm39) missense probably damaging 1.00
R5151:Myom3 UTSW 4 135,516,883 (GRCm39) missense probably benign 0.01
R5158:Myom3 UTSW 4 135,492,897 (GRCm39) missense probably damaging 0.99
R5169:Myom3 UTSW 4 135,502,889 (GRCm39) missense probably benign 0.01
R5239:Myom3 UTSW 4 135,528,303 (GRCm39) splice site probably benign
R6130:Myom3 UTSW 4 135,489,882 (GRCm39) missense probably benign
R6253:Myom3 UTSW 4 135,528,314 (GRCm39) missense probably benign 0.00
R6253:Myom3 UTSW 4 135,513,203 (GRCm39) missense probably benign 0.07
R6331:Myom3 UTSW 4 135,503,688 (GRCm39) missense possibly damaging 0.46
R6346:Myom3 UTSW 4 135,533,362 (GRCm39) missense probably benign 0.00
R6502:Myom3 UTSW 4 135,489,824 (GRCm39) start gained probably benign
R6613:Myom3 UTSW 4 135,539,770 (GRCm39) missense possibly damaging 0.80
R6899:Myom3 UTSW 4 135,530,603 (GRCm39) missense probably damaging 1.00
R6969:Myom3 UTSW 4 135,528,371 (GRCm39) missense probably damaging 0.98
R7088:Myom3 UTSW 4 135,530,589 (GRCm39) missense probably damaging 1.00
R7159:Myom3 UTSW 4 135,536,162 (GRCm39) missense probably damaging 1.00
R7203:Myom3 UTSW 4 135,522,490 (GRCm39) missense possibly damaging 0.92
R7397:Myom3 UTSW 4 135,510,429 (GRCm39) missense probably damaging 0.98
R7453:Myom3 UTSW 4 135,528,346 (GRCm39) missense probably damaging 1.00
R7815:Myom3 UTSW 4 135,528,674 (GRCm39) missense possibly damaging 0.67
R7931:Myom3 UTSW 4 135,516,947 (GRCm39) missense probably benign
R7939:Myom3 UTSW 4 135,534,589 (GRCm39) critical splice donor site probably null
R8024:Myom3 UTSW 4 135,529,059 (GRCm39) missense probably benign 0.02
R8167:Myom3 UTSW 4 135,534,504 (GRCm39) missense possibly damaging 0.48
R8188:Myom3 UTSW 4 135,507,231 (GRCm39) missense probably damaging 1.00
R8709:Myom3 UTSW 4 135,523,607 (GRCm39) missense possibly damaging 0.81
R8745:Myom3 UTSW 4 135,522,509 (GRCm39) critical splice donor site probably null
R8890:Myom3 UTSW 4 135,541,565 (GRCm39) missense probably benign 0.30
R8922:Myom3 UTSW 4 135,492,222 (GRCm39) missense probably damaging 1.00
R8984:Myom3 UTSW 4 135,515,255 (GRCm39) missense
R9090:Myom3 UTSW 4 135,505,479 (GRCm39) missense probably benign 0.00
R9178:Myom3 UTSW 4 135,506,710 (GRCm39) missense probably benign 0.00
R9235:Myom3 UTSW 4 135,541,653 (GRCm39) missense probably damaging 1.00
R9271:Myom3 UTSW 4 135,505,479 (GRCm39) missense probably benign 0.00
R9396:Myom3 UTSW 4 135,513,199 (GRCm39) missense probably benign 0.01
Z1176:Myom3 UTSW 4 135,492,131 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07