Incidental Mutation 'IGL03351:Lmod2'
ID 419730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmod2
Ensembl Gene ENSMUSG00000029683
Gene Name leiomodin 2 (cardiac)
Synonyms C-Lmod
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL03351
Quality Score
Status
Chromosome 6
Chromosomal Location 24597770-24605413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24598015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 45 (N45S)
Ref Sequence ENSEMBL: ENSMUSP00000031694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031694]
AlphaFold Q3UHZ5
Predicted Effect probably benign
Transcript: ENSMUST00000031694
AA Change: N45S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: N45S

DomainStartEndE-ValueType
Pfam:Tropomodulin 6 153 9.7e-19 PFAM
PDB:1IO0|A 202 360 5e-45 PDB
low complexity region 361 374 N/A INTRINSIC
low complexity region 403 414 N/A INTRINSIC
low complexity region 421 453 N/A INTRINSIC
low complexity region 482 490 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202403
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,561,427 (GRCm39) D251E probably benign Het
5730460C07Rik C T 3: 153,495,595 (GRCm39) noncoding transcript Het
Coch G A 12: 51,649,989 (GRCm39) R326Q probably benign Het
Cpa3 A G 3: 20,270,126 (GRCm39) V366A probably benign Het
Csf1r C T 18: 61,250,180 (GRCm39) Q382* probably null Het
Csta1 C A 16: 35,951,411 (GRCm39) G4* probably null Het
Cts7 T C 13: 61,504,417 (GRCm39) R49G probably damaging Het
Dlg5 A G 14: 24,220,522 (GRCm39) V575A probably benign Het
Ero1a G T 14: 45,531,990 (GRCm39) N227K probably benign Het
Faap24 G T 7: 35,094,734 (GRCm39) C58* probably null Het
Hfm1 G A 5: 107,059,441 (GRCm39) Q194* probably null Het
Hs3st5 T A 10: 36,709,319 (GRCm39) Y285N probably damaging Het
Hyal6 G A 6: 24,743,428 (GRCm39) G375R probably damaging Het
Itgb5 T C 16: 33,730,922 (GRCm39) S93P probably benign Het
Kcnj6 A T 16: 94,633,442 (GRCm39) M205K probably damaging Het
Kdm6a C T X: 18,113,343 (GRCm39) Q92* probably null Het
Klhl38 A G 15: 58,186,726 (GRCm39) M1T probably null Het
Krtap7-1 T C 16: 89,304,884 (GRCm39) probably benign Het
L1cam T C X: 72,906,634 (GRCm39) T270A probably damaging Het
Magea13 G A X: 57,964,297 (GRCm39) V19I probably benign Het
Mmp2 A G 8: 93,565,970 (GRCm39) I424V probably benign Het
Myh8 A G 11: 67,194,739 (GRCm39) Q1650R possibly damaging Het
Naalad2 T A 9: 18,275,483 (GRCm39) E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 (GRCm39) T74A probably benign Het
Npr2 G T 4: 43,640,652 (GRCm39) M368I probably benign Het
Nup58 T C 14: 60,466,224 (GRCm39) T445A probably benign Het
Or14a256 A G 7: 86,264,885 (GRCm39) Y323H possibly damaging Het
Or52r1b A G 7: 102,691,337 (GRCm39) D212G probably damaging Het
Pkp3 A G 7: 140,662,606 (GRCm39) T73A probably benign Het
Pole A G 5: 110,449,864 (GRCm39) probably benign Het
Ppp2r3d C T 9: 101,088,391 (GRCm39) G644D probably benign Het
Pramel23 G A 4: 143,423,658 (GRCm39) T377I possibly damaging Het
Ptprb T C 10: 116,175,487 (GRCm39) Y1161H probably benign Het
Ptprs T A 17: 56,744,943 (GRCm39) K264N probably damaging Het
Rasal2 T C 1: 157,020,311 (GRCm39) probably benign Het
Serpina6 A T 12: 103,613,172 (GRCm39) I376N probably damaging Het
Setx T G 2: 29,051,811 (GRCm39) I2062M probably benign Het
Slc9c1 A G 16: 45,363,531 (GRCm39) D99G probably benign Het
Spata31h1 T C 10: 82,119,401 (GRCm39) probably benign Het
Taok1 A G 11: 77,451,154 (GRCm39) Y309H probably damaging Het
Trappc10 T C 10: 78,024,595 (GRCm39) D1178G probably damaging Het
Trav5-1 G A 14: 52,860,302 (GRCm39) E36K probably damaging Het
Vmn1r237 T C 17: 21,535,099 (GRCm39) V274A probably benign Het
Vmn1r29 A T 6: 58,284,735 (GRCm39) S152C probably damaging Het
Washc5 C A 15: 59,235,199 (GRCm39) probably benign Het
Zfp369 T G 13: 65,443,967 (GRCm39) L370R possibly damaging Het
Zfp750 T C 11: 121,404,173 (GRCm39) Y234C probably damaging Het
Other mutations in Lmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Lmod2 APN 6 24,598,051 (GRCm39) missense probably damaging 1.00
IGL01013:Lmod2 APN 6 24,604,134 (GRCm39) missense probably damaging 0.98
IGL02164:Lmod2 APN 6 24,603,909 (GRCm39) missense possibly damaging 0.89
IGL02328:Lmod2 APN 6 24,603,832 (GRCm39) missense probably benign 0.00
IGL02956:Lmod2 APN 6 24,603,631 (GRCm39) missense probably damaging 1.00
IGL03213:Lmod2 APN 6 24,603,615 (GRCm39) missense possibly damaging 0.88
P0035:Lmod2 UTSW 6 24,597,885 (GRCm39) missense probably damaging 1.00
R1764:Lmod2 UTSW 6 24,603,376 (GRCm39) missense probably damaging 0.99
R3104:Lmod2 UTSW 6 24,604,471 (GRCm39) missense probably damaging 1.00
R3955:Lmod2 UTSW 6 24,603,870 (GRCm39) missense probably benign 0.02
R4410:Lmod2 UTSW 6 24,604,629 (GRCm39) missense probably damaging 1.00
R4876:Lmod2 UTSW 6 24,604,278 (GRCm39) missense probably benign 0.06
R4957:Lmod2 UTSW 6 24,603,871 (GRCm39) missense possibly damaging 0.63
R5509:Lmod2 UTSW 6 24,603,888 (GRCm39) missense probably damaging 1.00
R5655:Lmod2 UTSW 6 24,603,853 (GRCm39) missense possibly damaging 0.65
R6114:Lmod2 UTSW 6 24,603,691 (GRCm39) missense probably damaging 1.00
R6462:Lmod2 UTSW 6 24,604,300 (GRCm39) missense probably benign 0.06
R6834:Lmod2 UTSW 6 24,597,782 (GRCm39) start gained probably benign
R6869:Lmod2 UTSW 6 24,604,126 (GRCm39) missense probably benign 0.06
R6909:Lmod2 UTSW 6 24,604,157 (GRCm39) missense probably benign 0.00
R6918:Lmod2 UTSW 6 24,603,594 (GRCm39) missense probably benign 0.23
R7352:Lmod2 UTSW 6 24,598,110 (GRCm39) missense possibly damaging 0.84
R7425:Lmod2 UTSW 6 24,603,475 (GRCm39) missense probably benign
R7476:Lmod2 UTSW 6 24,597,920 (GRCm39) nonsense probably null
R7986:Lmod2 UTSW 6 24,603,448 (GRCm39) missense possibly damaging 0.65
R8417:Lmod2 UTSW 6 24,603,384 (GRCm39) missense possibly damaging 0.71
R9063:Lmod2 UTSW 6 24,603,364 (GRCm39) missense probably benign 0.01
R9286:Lmod2 UTSW 6 24,603,712 (GRCm39) missense probably damaging 1.00
R9326:Lmod2 UTSW 6 24,597,999 (GRCm39) missense probably damaging 1.00
R9461:Lmod2 UTSW 6 24,603,568 (GRCm39) missense probably benign 0.01
R9716:Lmod2 UTSW 6 24,604,182 (GRCm39) missense possibly damaging 0.83
R9780:Lmod2 UTSW 6 24,604,233 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02