Incidental Mutation 'IGL00427:Lmod3'
ID6342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmod3
Ensembl Gene ENSMUSG00000044086
Gene Nameleiomodin 3 (fetal)
Synonyms5430424A14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL00427
Quality Score
Status
Chromosome6
Chromosomal Location97238534-97252759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 97252297 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 92 (V92G)
Ref Sequence ENSEMBL: ENSMUSP00000093315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095655]
Predicted Effect probably damaging
Transcript: ENSMUST00000095655
AA Change: V92G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093315
Gene: ENSMUSG00000044086
AA Change: V92G

DomainStartEndE-ValueType
Pfam:Tropomodulin 8 177 1.2e-13 PFAM
PDB:1IO0|A 248 406 9e-46 PDB
SCOP:d1a4ya_ 261 358 1e-3 SMART
low complexity region 407 427 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an endonuclease-mediated mutation are runted and exhibit nemaline myopathy including a reduction in skeletal myofiber size, centrally nucleated skeletal muscle fibers, increase in skeletal muscle glycogen levels, and abnormal sarcomere and Z lines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,194,357 D289G probably damaging Het
Adnp C T 2: 168,182,562 D938N probably benign Het
Arpin T A 7: 79,927,675 N208I probably benign Het
Cby3 A G 11: 50,357,811 probably benign Het
Cnih4 T A 1: 181,153,747 S28T probably damaging Het
D130052B06Rik G T 11: 33,623,558 V97L possibly damaging Het
Dchs1 T C 7: 105,758,424 E2067G probably damaging Het
Dennd6a C T 14: 26,608,613 T113I probably damaging Het
Dock4 T A 12: 40,832,306 F1590L possibly damaging Het
Dopey1 G T 9: 86,521,500 Q1582H probably benign Het
Dopey1 C A 9: 86,521,498 Q1582K possibly damaging Het
Dopey1 A T 9: 86,521,499 Q1582L probably damaging Het
Ebna1bp2 A T 4: 118,625,821 K291M probably damaging Het
Evpl G T 11: 116,234,505 Q73K probably benign Het
Fam131b G T 6: 42,318,961 T139K probably damaging Het
Gm10704 A C 3: 88,576,923 probably benign Het
Golga3 A G 5: 110,220,887 T1358A probably damaging Het
Gpr1 A T 1: 63,183,338 I246N probably damaging Het
Hgf G A 5: 16,578,486 D265N probably benign Het
Homer1 A G 13: 93,402,114 N333S probably benign Het
Igkv17-134 A T 6: 67,720,984 probably benign Het
Il16 T C 7: 83,652,458 D152G probably benign Het
Ireb2 T C 9: 54,899,482 probably benign Het
Itgb2 C T 10: 77,557,956 T410I probably benign Het
Kctd14 C A 7: 97,457,712 A111E possibly damaging Het
Lmtk2 A G 5: 144,134,155 D83G probably damaging Het
Myh1 A G 11: 67,220,865 E1682G probably damaging Het
Myo9a T A 9: 59,843,059 probably benign Het
Nlrc4 T C 17: 74,447,092 N99D probably benign Het
P2rx3 A G 2: 85,035,272 Y10H probably damaging Het
Pcsk7 C A 9: 45,927,660 D623E probably benign Het
Plxna1 A G 6: 89,320,998 I1766T probably damaging Het
Ptk7 T C 17: 46,574,427 Y691C probably damaging Het
Rec8 A T 14: 55,618,651 T17S probably damaging Het
Ryr1 T C 7: 29,104,737 probably benign Het
Scg3 T G 9: 75,663,237 K345T probably damaging Het
Serpina3b A T 12: 104,132,941 K238N probably benign Het
Slc38a9 T A 13: 112,701,618 S306T probably damaging Het
Txndc16 A G 14: 45,145,090 probably benign Het
Vmn1r238 T A 18: 3,123,243 Y57F probably benign Het
Vmn2r104 A T 17: 20,038,239 S548T probably damaging Het
Xrcc1 T A 7: 24,547,884 probably null Het
Other mutations in Lmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Lmod3 APN 6 97247861 missense probably damaging 1.00
IGL01401:Lmod3 APN 6 97252552 missense probably damaging 1.00
IGL02279:Lmod3 APN 6 97247672 missense probably damaging 1.00
IGL02621:Lmod3 APN 6 97238835 utr 3 prime probably benign
IGL03116:Lmod3 APN 6 97247195 missense possibly damaging 0.92
Runted UTSW 6 97247273 missense probably damaging 1.00
R0086:Lmod3 UTSW 6 97247345 missense probably damaging 1.00
R0627:Lmod3 UTSW 6 97248071 missense probably damaging 0.96
R2208:Lmod3 UTSW 6 97247877 missense probably benign 0.06
R4038:Lmod3 UTSW 6 97248314 missense probably benign 0.06
R4913:Lmod3 UTSW 6 97247164 splice site probably null
R5867:Lmod3 UTSW 6 97248002 missense probably damaging 1.00
R5905:Lmod3 UTSW 6 97247614 missense probably damaging 1.00
R6035:Lmod3 UTSW 6 97247273 missense probably damaging 1.00
R6035:Lmod3 UTSW 6 97247273 missense probably damaging 1.00
R6183:Lmod3 UTSW 6 97252553 missense probably damaging 1.00
R6210:Lmod3 UTSW 6 97247301 missense probably damaging 1.00
R6527:Lmod3 UTSW 6 97247378 missense probably benign 0.00
R7225:Lmod3 UTSW 6 97247384 missense probably benign 0.34
R7531:Lmod3 UTSW 6 97248442 missense probably benign 0.01
R7908:Lmod3 UTSW 6 97248473 missense probably benign 0.05
R7989:Lmod3 UTSW 6 97248473 missense probably benign 0.05
R8022:Lmod3 UTSW 6 97248299 missense probably benign
Posted On2012-04-20