Incidental Mutation 'IGL00324:Lmod1'
ID 7369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmod1
Ensembl Gene ENSMUSG00000048096
Gene Name leiomodin 1 (smooth muscle)
Synonyms 9530015K06Rik, SM-Lmod, 1D, D1, 64kD D1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL00324
Quality Score
Status
Chromosome 1
Chromosomal Location 135252551-135295803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135292216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 357 (K357R)
Ref Sequence ENSEMBL: ENSMUSP00000061597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059352]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059352
AA Change: K357R

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: K357R

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
Abcd3 T C 3: 121,570,642 (GRCm39) probably benign Het
Cdk12 T A 11: 98,136,214 (GRCm39) L1156Q unknown Het
Ctsl T C 13: 64,515,982 (GRCm39) Y66C probably damaging Het
Esd C T 14: 74,973,467 (GRCm39) H21Y probably damaging Het
Fcrlb A C 1: 170,736,393 (GRCm39) Y128D possibly damaging Het
Gm17027 A T 14: 41,981,267 (GRCm39) N196K unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpcal1 A G 12: 17,841,146 (GRCm39) S175G probably benign Het
Itgam A T 7: 127,684,833 (GRCm39) D401V probably damaging Het
Kank1 A G 19: 25,389,122 (GRCm39) T932A probably benign Het
Muc4 A G 16: 32,599,186 (GRCm39) I3271V probably benign Het
Nlrc5 A G 8: 95,248,107 (GRCm39) K1692E probably damaging Het
Ocln A G 13: 100,671,521 (GRCm39) W279R probably damaging Het
Or4p20 T C 2: 88,254,130 (GRCm39) I80V probably benign Het
Pcsk1 A G 13: 75,280,206 (GRCm39) K677R probably benign Het
Pitrm1 T A 13: 6,618,702 (GRCm39) L586Q probably damaging Het
Plppr3 G A 10: 79,702,503 (GRCm39) S217L probably damaging Het
Pnldc1 A T 17: 13,124,645 (GRCm39) probably benign Het
Pramel12 T A 4: 143,143,237 (GRCm39) M1K probably null Het
Pramel13 A G 4: 144,121,310 (GRCm39) L238P possibly damaging Het
Sema6b C T 17: 56,437,048 (GRCm39) D204N probably damaging Het
Slc12a5 A G 2: 164,839,041 (GRCm39) N1063S probably damaging Het
Tg T C 15: 66,565,273 (GRCm39) V1205A probably benign Het
Tmem260 T C 14: 48,724,336 (GRCm39) F205L probably benign Het
Trappc11 A T 8: 47,956,337 (GRCm39) probably benign Het
Tsen34 A G 7: 3,703,530 (GRCm39) *296W probably null Het
Ubr2 A G 17: 47,296,986 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,706,684 (GRCm39) W505R possibly damaging Het
Wbp11 A G 6: 136,798,668 (GRCm39) probably benign Het
Znfx1 A T 2: 166,878,649 (GRCm39) M1909K possibly damaging Het
Other mutations in Lmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Lmod1 APN 1 135,292,522 (GRCm39) missense probably damaging 1.00
IGL02606:Lmod1 APN 1 135,292,218 (GRCm39) missense probably benign 0.09
IGL03373:Lmod1 APN 1 135,292,264 (GRCm39) missense possibly damaging 0.90
R0513:Lmod1 UTSW 1 135,252,906 (GRCm39) missense probably damaging 0.98
R1185:Lmod1 UTSW 1 135,291,967 (GRCm39) missense probably benign
R1185:Lmod1 UTSW 1 135,291,967 (GRCm39) missense probably benign
R1185:Lmod1 UTSW 1 135,291,967 (GRCm39) missense probably benign
R1572:Lmod1 UTSW 1 135,291,671 (GRCm39) missense probably benign 0.00
R1728:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1729:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1730:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1739:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1762:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1783:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1784:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1785:Lmod1 UTSW 1 135,291,811 (GRCm39) missense probably benign 0.10
R1795:Lmod1 UTSW 1 135,252,862 (GRCm39) missense probably damaging 1.00
R2044:Lmod1 UTSW 1 135,292,125 (GRCm39) missense probably benign 0.00
R2355:Lmod1 UTSW 1 135,292,253 (GRCm39) missense probably benign 0.28
R2568:Lmod1 UTSW 1 135,291,702 (GRCm39) nonsense probably null
R2937:Lmod1 UTSW 1 135,291,654 (GRCm39) missense probably benign 0.11
R2938:Lmod1 UTSW 1 135,291,654 (GRCm39) missense probably benign 0.11
R6108:Lmod1 UTSW 1 135,291,849 (GRCm39) missense probably benign 0.43
R6823:Lmod1 UTSW 1 135,252,905 (GRCm39) missense probably damaging 0.98
R6872:Lmod1 UTSW 1 135,292,879 (GRCm39) missense probably damaging 1.00
R7954:Lmod1 UTSW 1 135,252,794 (GRCm39) missense probably damaging 1.00
R8407:Lmod1 UTSW 1 135,291,763 (GRCm39) missense probably benign 0.01
R8407:Lmod1 UTSW 1 135,292,734 (GRCm39) missense possibly damaging 0.94
R8527:Lmod1 UTSW 1 135,292,221 (GRCm39) missense possibly damaging 0.62
R8542:Lmod1 UTSW 1 135,292,221 (GRCm39) missense possibly damaging 0.62
Posted On 2012-04-20