Incidental Mutation 'IGL03373:Lmod1'
ID420386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmod1
Ensembl Gene ENSMUSG00000048096
Gene Nameleiomodin 1 (smooth muscle)
SynonymsD1, 9530015K06Rik, 64kD D1, 1D, SM-Lmod
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL03373
Quality Score
Status
Chromosome1
Chromosomal Location135324807-135368065 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135364526 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 373 (A373V)
Ref Sequence ENSEMBL: ENSMUSP00000061597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059352]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059352
AA Change: A373V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: A373V

DomainStartEndE-ValueType
Pfam:Tropomodulin 5 127 1e-19 PFAM
low complexity region 177 190 N/A INTRINSIC
low complexity region 202 220 N/A INTRINSIC
PDB:1IO0|A 296 467 5e-35 PDB
SCOP:d1a4ya_ 311 445 7e-5 SMART
low complexity region 469 483 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
WH2 569 588 1.05e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,545,552 Y515F possibly damaging Het
Adgrv1 A G 13: 81,563,632 V1075A probably damaging Het
Alox8 T C 11: 69,186,617 T436A probably benign Het
Cdc7 T A 5: 106,972,919 probably benign Het
Cdhr1 T A 14: 37,096,300 D65V possibly damaging Het
Dnase1 A G 16: 4,039,843 E278G probably damaging Het
Eif3g A T 9: 20,894,426 probably benign Het
Flnb G A 14: 7,890,867 probably null Het
Hars2 G T 18: 36,785,945 R86L probably damaging Het
Mdga2 A G 12: 66,716,722 I200T probably damaging Het
Mup1 T G 4: 60,501,850 probably benign Het
Nat8f5 A C 6: 85,817,547 S144A probably benign Het
Ndnf A C 6: 65,704,288 Y517S possibly damaging Het
Nedd4l G A 18: 65,181,320 probably benign Het
Nlrp4g A T 9: 124,349,853 noncoding transcript Het
Nob1 C T 8: 107,418,046 probably benign Het
Nploc4 G A 11: 120,409,629 R326* probably null Het
Obox3 A T 7: 15,625,790 V318D probably benign Het
Olfr1122 T C 2: 87,388,233 F176S probably damaging Het
Olfr512 G A 7: 108,714,132 V248I probably damaging Het
Pgm2 T C 4: 99,961,544 I130T probably damaging Het
Ptprk A T 10: 28,566,537 D845V probably damaging Het
Ptx4 T A 17: 25,120,899 S17T probably benign Het
Rasgrf1 T C 9: 90,017,031 probably benign Het
Rfx6 A G 10: 51,720,000 T426A probably damaging Het
Sfpq C A 4: 127,026,785 R564S possibly damaging Het
Spint2 A G 7: 29,258,209 probably benign Het
Vmn1r27 A G 6: 58,215,704 I105T probably damaging Het
Vmn1r78 T C 7: 12,153,343 S294P possibly damaging Het
Vmn2r40 T C 7: 8,920,093 D423G probably benign Het
Other mutations in Lmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Lmod1 APN 1 135364478 missense probably benign 0.05
IGL01104:Lmod1 APN 1 135364784 missense probably damaging 1.00
IGL02606:Lmod1 APN 1 135364480 missense probably benign 0.09
R0513:Lmod1 UTSW 1 135325168 missense probably damaging 0.98
R1185:Lmod1 UTSW 1 135364229 missense probably benign
R1185:Lmod1 UTSW 1 135364229 missense probably benign
R1185:Lmod1 UTSW 1 135364229 missense probably benign
R1572:Lmod1 UTSW 1 135363933 missense probably benign 0.00
R1728:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1729:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1730:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1739:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1762:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1783:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1784:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1785:Lmod1 UTSW 1 135364073 missense probably benign 0.10
R1795:Lmod1 UTSW 1 135325124 missense probably damaging 1.00
R2044:Lmod1 UTSW 1 135364387 missense probably benign 0.00
R2355:Lmod1 UTSW 1 135364515 missense probably benign 0.28
R2568:Lmod1 UTSW 1 135363964 nonsense probably null
R2937:Lmod1 UTSW 1 135363916 missense probably benign 0.11
R2938:Lmod1 UTSW 1 135363916 missense probably benign 0.11
R6108:Lmod1 UTSW 1 135364111 missense probably benign 0.43
R6823:Lmod1 UTSW 1 135325167 missense probably damaging 0.98
R6872:Lmod1 UTSW 1 135365141 missense probably damaging 1.00
Posted On2016-08-02