Incidental Mutation 'R5905:Lmod3'
ID 456506
Institutional Source Beutler Lab
Gene Symbol Lmod3
Ensembl Gene ENSMUSG00000044086
Gene Name leiomodin 3 (fetal)
Synonyms 5430424A14Rik
MMRRC Submission 044102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R5905 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 97215495-97229720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97224575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 415 (E415D)
Ref Sequence ENSEMBL: ENSMUSP00000093315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095655]
AlphaFold E9QA62
Predicted Effect probably damaging
Transcript: ENSMUST00000095655
AA Change: E415D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093315
Gene: ENSMUSG00000044086
AA Change: E415D

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
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Als2cl G T 9: 110,727,152 (GRCm39) R906L probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arf4 A G 14: 26,375,079 (GRCm39) T113A probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Cachd1 C A 4: 100,840,753 (GRCm39) N905K probably damaging Het
Catsperb T A 12: 101,568,959 (GRCm39) M877K possibly damaging Het
Cc2d2a A T 5: 43,869,768 (GRCm39) M890L probably benign Het
Cd180 A T 13: 102,842,541 (GRCm39) H529L possibly damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Chd7 C A 4: 8,840,553 (GRCm39) N1440K possibly damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dmap1 G T 4: 117,533,963 (GRCm39) T132K probably benign Het
Dnah11 C T 12: 117,918,659 (GRCm39) G3424E probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Egfr A T 11: 16,861,494 (GRCm39) E1091V probably damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
F2r A G 13: 95,741,121 (GRCm39) V138A possibly damaging Het
Faf1 T A 4: 109,748,126 (GRCm39) M477K probably benign Het
Fam149b C T 14: 20,409,978 (GRCm39) T235M probably benign Het
Fan1 C A 7: 64,003,399 (GRCm39) A808S probably benign Het
Fbxl20 A G 11: 98,006,271 (GRCm39) I38T probably damaging Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gm9747 T C 1: 82,212,019 (GRCm39) probably benign Het
Grip1 A G 10: 119,821,397 (GRCm39) D354G probably benign Het
Grk4 A C 5: 34,869,074 (GRCm39) Y189S probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hgfac A G 5: 35,199,706 (GRCm39) N63D probably benign Het
Hk1 C A 10: 62,188,837 (GRCm39) K25N probably null Het
Hrc G A 7: 44,985,658 (GRCm39) G270S probably damaging Het
Inhba T A 13: 16,191,893 (GRCm39) W5R probably benign Het
Lipm T C 19: 34,089,311 (GRCm39) S90P probably benign Het
Lrrc37 A T 11: 103,505,081 (GRCm39) S2296T probably damaging Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marf1 T A 16: 13,945,113 (GRCm39) Q1252L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Mepce A G 5: 137,782,982 (GRCm39) V448A possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or10p21 A T 10: 128,847,156 (GRCm39) M1L probably benign Het
Or52z15 T A 7: 103,332,781 (GRCm39) N285K probably damaging Het
Or56b35 T C 7: 104,964,158 (GRCm39) Y316H probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Or9s13 T A 1: 92,547,864 (GRCm39) C79S possibly damaging Het
Otoa T A 7: 120,693,824 (GRCm39) L68Q probably damaging Het
Pclo A T 5: 14,730,399 (GRCm39) probably benign Het
Pcsk2 T A 2: 143,591,060 (GRCm39) Y186N probably damaging Het
Pigz A G 16: 31,764,246 (GRCm39) T435A probably benign Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Popdc3 A G 10: 45,194,015 (GRCm39) D272G probably benign Het
Prr5 A T 15: 84,626,178 (GRCm39) K84N possibly damaging Het
Prss36 T C 7: 127,532,744 (GRCm39) D716G probably benign Het
Rapgef5 T A 12: 117,712,161 (GRCm39) D547E probably damaging Het
Slc4a11 T A 2: 130,526,972 (GRCm39) I719F probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Snrpb T A 2: 130,021,196 (GRCm39) probably benign Het
Sox9 A G 11: 112,674,646 (GRCm39) E148G probably damaging Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Syt17 T C 7: 118,036,141 (GRCm39) D74G probably benign Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Trrap A G 5: 144,786,730 (GRCm39) K3170R possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Vmn1r216 C T 13: 23,283,367 (GRCm39) L17F probably damaging Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp354c T C 11: 50,706,253 (GRCm39) Y274C probably damaging Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown Het
Other mutations in Lmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Lmod3 APN 6 97,229,258 (GRCm39) missense probably damaging 0.99
IGL00465:Lmod3 APN 6 97,224,822 (GRCm39) missense probably damaging 1.00
IGL01401:Lmod3 APN 6 97,229,513 (GRCm39) missense probably damaging 1.00
IGL02279:Lmod3 APN 6 97,224,633 (GRCm39) missense probably damaging 1.00
IGL02621:Lmod3 APN 6 97,215,796 (GRCm39) utr 3 prime probably benign
IGL03116:Lmod3 APN 6 97,224,156 (GRCm39) missense possibly damaging 0.92
Runted UTSW 6 97,224,234 (GRCm39) missense probably damaging 1.00
R0086:Lmod3 UTSW 6 97,224,306 (GRCm39) missense probably damaging 1.00
R0627:Lmod3 UTSW 6 97,225,032 (GRCm39) missense probably damaging 0.96
R2208:Lmod3 UTSW 6 97,224,838 (GRCm39) missense probably benign 0.06
R4038:Lmod3 UTSW 6 97,225,275 (GRCm39) missense probably benign 0.06
R4913:Lmod3 UTSW 6 97,224,125 (GRCm39) splice site probably null
R5867:Lmod3 UTSW 6 97,224,963 (GRCm39) missense probably damaging 1.00
R6035:Lmod3 UTSW 6 97,224,234 (GRCm39) missense probably damaging 1.00
R6035:Lmod3 UTSW 6 97,224,234 (GRCm39) missense probably damaging 1.00
R6183:Lmod3 UTSW 6 97,229,514 (GRCm39) missense probably damaging 1.00
R6210:Lmod3 UTSW 6 97,224,262 (GRCm39) missense probably damaging 1.00
R6527:Lmod3 UTSW 6 97,224,339 (GRCm39) missense probably benign 0.00
R7225:Lmod3 UTSW 6 97,224,345 (GRCm39) missense probably benign 0.34
R7531:Lmod3 UTSW 6 97,225,403 (GRCm39) missense probably benign 0.01
R7908:Lmod3 UTSW 6 97,225,434 (GRCm39) missense probably benign 0.05
R8022:Lmod3 UTSW 6 97,225,260 (GRCm39) missense probably benign
R8154:Lmod3 UTSW 6 97,224,941 (GRCm39) missense probably damaging 1.00
R8325:Lmod3 UTSW 6 97,224,379 (GRCm39) missense probably benign 0.06
R9149:Lmod3 UTSW 6 97,224,625 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTTCTTGAACCAAAGGGG -3'
(R):5'- CCTCCAGTTCAATGAAACGC -3'

Sequencing Primer
(F):5'- AGGGGACTTCCTGAGCATC -3'
(R):5'- TGAAACGCTAACTGAACTTCGG -3'
Posted On 2017-02-15