Incidental Mutation 'IGL00340:Lmod2'
ID 5468
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 # IGL00340
Quality Score
Status
Chromosome 6
Chromosomal Location 24597770-24605413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24598051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 57 (E57G)
Ref Sequence ENSEMBL: ENSMUSP00000031694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031694]
AlphaFold Q3UHZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000031694
AA Change: E57G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: E57G

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Adgre5 T A 8: 84,455,030 (GRCm39) M221L probably benign Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Bcas3 A T 11: 85,256,417 (GRCm39) I60L probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Farsa A G 8: 85,590,886 (GRCm39) K208R probably damaging Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Hnrnpl C A 7: 28,512,798 (GRCm39) A118D probably damaging Het
Klhl14 G A 18: 21,784,921 (GRCm39) P169S probably benign Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Lmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03351:Lmod2 APN 6 24,598,015 (GRCm39) missense probably benign 0.00
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 2012-04-20