Incidental Mutation 'IGL01490:Myom3'
ID 88815
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 # IGL01490
Quality Score
Status
Chromosome 4
Chromosomal Location 135487026-135542875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135538089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1324 (R1324G)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
AlphaFold A2ABU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000105854
AA Change: R1324G

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: R1324G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145304
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Myom3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Myom3 APN 4 135,489,882 (GRCm39) missense possibly damaging 0.66
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
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 2013-11-18