Incidental Mutation 'IGL01939:Myom3'
ID 180797
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 # IGL01939
Quality Score
Status
Chromosome 4
Chromosomal Location 135487026-135542875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135492900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
AlphaFold A2ABU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000105854
AA Change: S150P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: S150P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,885,925 (GRCm39) D22Y probably damaging Het
Ak7 T C 12: 105,701,183 (GRCm39) V242A probably benign Het
Cacna1b T C 2: 24,551,769 (GRCm39) N1127S probably damaging Het
Cacnb2 A T 2: 14,976,380 (GRCm39) H267L probably benign Het
Ces1b C T 8: 93,806,059 (GRCm39) G61R probably damaging Het
Cgnl1 T A 9: 71,632,286 (GRCm39) D355V probably damaging Het
Col24a1 T C 3: 145,021,005 (GRCm39) S459P probably damaging Het
Crygd T C 1: 65,101,185 (GRCm39) T137A probably benign Het
Dctn4 T A 18: 60,677,202 (GRCm39) M174K probably benign Het
Evi5 A G 5: 107,964,790 (GRCm39) probably benign Het
Fat2 T G 11: 55,174,806 (GRCm39) D1969A probably benign Het
Fcrl5 A T 3: 87,353,606 (GRCm39) E317V probably damaging Het
Foxf2 G T 13: 31,810,697 (GRCm39) S212I probably damaging Het
Gm21759 T A 5: 8,230,685 (GRCm39) probably benign Het
Gm5414 A G 15: 101,534,105 (GRCm39) probably benign Het
Gm7275 T C 16: 47,893,946 (GRCm39) noncoding transcript Het
Hspa9 T C 18: 35,071,761 (GRCm39) E613G possibly damaging Het
Il1rl1 A G 1: 40,501,168 (GRCm39) I515V possibly damaging Het
Ins1 G T 19: 52,253,173 (GRCm39) A38S probably damaging Het
Klhl31 A G 9: 77,562,488 (GRCm39) N418D probably benign Het
Magi3 T C 3: 103,961,778 (GRCm39) K417E probably damaging Het
Msh4 A G 3: 153,563,226 (GRCm39) Y823H probably damaging Het
Myo6 T A 9: 80,168,100 (GRCm39) D421E probably damaging Het
Nectin1 C T 9: 43,703,871 (GRCm39) probably benign Het
Nkx1-2 A T 7: 132,201,203 (GRCm39) I18N probably damaging Het
Or4s2b A G 2: 88,509,077 (GRCm39) T286A probably damaging Het
Or5b113 A T 19: 13,342,807 (GRCm39) I272F probably benign Het
Or8g33 A C 9: 39,337,634 (GRCm39) H244Q probably damaging Het
Or9g4 T C 2: 85,505,285 (GRCm39) D70G probably damaging Het
Pde8b T C 13: 95,232,232 (GRCm39) R237G probably damaging Het
Pp2d1 G A 17: 53,822,167 (GRCm39) L300F probably damaging Het
Ptpn21 A T 12: 98,655,420 (GRCm39) Y516N probably damaging Het
Ptprm T A 17: 67,370,158 (GRCm39) probably benign Het
Rabggtb A G 3: 153,617,650 (GRCm39) V16A probably damaging Het
Rangap1 A T 15: 81,604,864 (GRCm39) C82S probably damaging Het
Rasal2 T C 1: 157,003,480 (GRCm39) E393G probably damaging Het
Rasgrf1 A T 9: 89,856,889 (GRCm39) E449V probably damaging Het
Rrp12 A T 19: 41,859,334 (GRCm39) H1143Q probably damaging Het
Scap T C 9: 110,208,549 (GRCm39) I530T probably benign Het
Sel1l T A 12: 91,783,021 (GRCm39) Q482L probably damaging Het
Serpinb9b T C 13: 33,223,648 (GRCm39) M280T probably damaging Het
Slc39a10 T A 1: 46,871,895 (GRCm39) H348L probably benign Het
Slc7a2 T C 8: 41,367,120 (GRCm39) L542P possibly damaging Het
Tas1r2 A T 4: 139,396,488 (GRCm39) Q609L probably damaging Het
Tbc1d14 A T 5: 36,665,781 (GRCm39) probably benign Het
Tfb2m A G 1: 179,365,262 (GRCm39) probably null Het
Tpo T C 12: 30,134,646 (GRCm39) T771A possibly damaging Het
Tpr G A 1: 150,289,496 (GRCm39) R609H possibly damaging Het
Usp34 T A 11: 23,295,141 (GRCm39) probably benign Het
Vmn1r193 G T 13: 22,403,893 (GRCm39) S33* probably null Het
Vmn2r104 A C 17: 20,250,187 (GRCm39) S695A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r24 A G 6: 123,764,404 (GRCm39) D427G probably benign Het
Zfp362 A G 4: 128,680,846 (GRCm39) S160P 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
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
IGL02043:Myom3 APN 4 135,497,986 (GRCm39) missense probably damaging 1.00
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