Incidental Mutation 'R1185:Lmod1'
ID 165235
Institutional Source Beutler Lab
Gene Symbol Lmod1
Ensembl Gene ENSMUSG00000048096
Gene Name leiomodin 1 (smooth muscle)
Synonyms 9530015K06Rik, SM-Lmod, 1D, D1, 64kD D1
MMRRC Submission 039257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1185 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 135252551-135295803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135291967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 274 (D274G)
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: D274G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: D274G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.3%
  • 10x: 93.0%
  • 20x: 79.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ac165356.1 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Aimp2 A G 5: 143,841,509 (GRCm39) S110P possibly damaging Het
Akap9 A G 5: 3,998,783 (GRCm39) T51A probably benign Het
Arhgef25 A G 10: 127,019,650 (GRCm39) F430L possibly damaging Het
Brap T C 5: 121,813,342 (GRCm39) V235A probably damaging Het
Cd69 C T 6: 129,247,148 (GRCm39) G23D probably damaging Het
Cecr2 C T 6: 120,735,166 (GRCm39) R24* probably null Het
Celsr2 T C 3: 108,307,025 (GRCm39) D1974G possibly damaging Het
Cps1 A G 1: 67,234,358 (GRCm39) K915R probably benign Het
Csmd1 T C 8: 16,408,362 (GRCm39) D401G probably damaging Het
Dusp13b A G 14: 21,785,086 (GRCm39) F141S probably damaging Het
Eif1ad19 A G 12: 87,740,478 (GRCm39) V27A probably benign Het
Fam162b A G 10: 51,466,439 (GRCm39) W27R probably benign Het
Focad A G 4: 88,096,424 (GRCm39) T269A probably benign Het
Ghr T A 15: 3,357,544 (GRCm39) R241S possibly damaging Het
Hirip3 AAGAG AAG 7: 126,462,832 (GRCm39) probably null Het
Itgb2l A G 16: 96,230,240 (GRCm39) Y357H possibly damaging Het
Jrkl T C 9: 13,244,938 (GRCm39) D241G possibly damaging Het
Lrrn2 A G 1: 132,866,959 (GRCm39) S675G probably benign Het
Ltbp4 G C 7: 27,009,960 (GRCm39) P1200R probably damaging Het
Mdn1 T C 4: 32,735,576 (GRCm39) L3414P possibly damaging Het
Muc19 A G 15: 91,762,743 (GRCm39) noncoding transcript Het
Neb A G 2: 52,186,310 (GRCm39) Y921H probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Pgap3 T C 11: 98,281,960 (GRCm39) D117G probably damaging Het
Ppp1r9b T C 11: 94,892,812 (GRCm39) F671L possibly damaging Het
Purg T G 8: 33,876,897 (GRCm39) Y178* probably null Het
Rsph10b G A 5: 143,903,280 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,371,050 (GRCm39) D79V probably damaging Het
Tcaf3 T C 6: 42,568,368 (GRCm39) T663A probably damaging Het
Timd4 C A 11: 46,708,475 (GRCm39) T167K probably damaging Het
Tjp2 A G 19: 24,108,527 (GRCm39) L195P possibly damaging Het
Tnr G A 1: 159,679,856 (GRCm39) A277T probably benign Het
Trpm3 G A 19: 22,891,781 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,477 (GRCm39) G181D probably benign Het
Vmn1r11 T A 6: 57,114,492 (GRCm39) L52Q possibly damaging Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Zfp27 T C 7: 29,595,254 (GRCm39) D237G possibly damaging Het
Zfp39 T C 11: 58,793,670 (GRCm39) T23A possibly damaging Het
Zfp459 T G 13: 67,556,600 (GRCm39) N161T probably benign Het
Other mutations in Lmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Lmod1 APN 1 135,292,216 (GRCm39) missense probably benign 0.05
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
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 1 135,292,734 (GRCm39) missense possibly damaging 0.94
R8407:Lmod1 UTSW 1 135,291,763 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- GCGTTTTAAAGAAAAGCTTCTCCAGGG -3'
(R):5'- GCAGTCTGAGTTGTTGACGTTCACC -3'

Sequencing Primer
(F):5'- AAGCTTCTCCAGGGATCGAG -3'
(R):5'- CTCTGTCATCTCTGGGTCGTTG -3'
Posted On 2014-03-28