Incidental Mutation 'IGL01013:Lmod2'
ID53618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmod2
Ensembl Gene ENSMUSG00000029683
Gene Nameleiomodin 2 (cardiac)
SynonymsC-Lmod
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01013
Quality Score
Status
Chromosome6
Chromosomal Location24597762-24605414 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 24604135 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 370 (Q370K)
Ref Sequence ENSEMBL: ENSMUSP00000031694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031694]
Predicted Effect probably damaging
Transcript: ENSMUST00000031694
AA Change: Q370K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031694
Gene: ENSMUSG00000029683
AA Change: Q370K

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Lmod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Lmod2 APN 6 24598052 missense probably damaging 1.00
IGL02164:Lmod2 APN 6 24603910 missense possibly damaging 0.89
IGL02328:Lmod2 APN 6 24603833 missense probably benign 0.00
IGL02956:Lmod2 APN 6 24603632 missense probably damaging 1.00
IGL03213:Lmod2 APN 6 24603616 missense possibly damaging 0.88
IGL03351:Lmod2 APN 6 24598016 missense probably benign 0.00
P0035:Lmod2 UTSW 6 24597886 missense probably damaging 1.00
R1764:Lmod2 UTSW 6 24603377 missense probably damaging 0.99
R3104:Lmod2 UTSW 6 24604472 missense probably damaging 1.00
R3955:Lmod2 UTSW 6 24603871 missense probably benign 0.02
R4410:Lmod2 UTSW 6 24604630 missense probably damaging 1.00
R4876:Lmod2 UTSW 6 24604279 missense probably benign 0.06
R4957:Lmod2 UTSW 6 24603872 missense possibly damaging 0.63
R5509:Lmod2 UTSW 6 24603889 missense probably damaging 1.00
R5655:Lmod2 UTSW 6 24603854 missense possibly damaging 0.65
R6114:Lmod2 UTSW 6 24603692 missense probably damaging 1.00
R6462:Lmod2 UTSW 6 24604301 missense probably benign 0.06
R6834:Lmod2 UTSW 6 24597783 start gained probably benign
R6869:Lmod2 UTSW 6 24604127 missense probably benign 0.06
R6909:Lmod2 UTSW 6 24604158 missense probably benign 0.00
R6918:Lmod2 UTSW 6 24603595 missense probably benign 0.23
R7352:Lmod2 UTSW 6 24598111 missense possibly damaging 0.84
R7425:Lmod2 UTSW 6 24603476 missense probably benign
R7476:Lmod2 UTSW 6 24597921 nonsense probably null
Posted On2013-06-28