Incidental Mutation 'R2568:Lmod1'
ID254600
Institutional Source Beutler Lab
Gene Symbol Lmod1
Ensembl Gene ENSMUSG00000048096
Gene Nameleiomodin 1 (smooth muscle)
SynonymsD1, 9530015K06Rik, 64kD D1, 1D, SM-Lmod
MMRRC Submission 040427-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R2568 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location135324807-135368065 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 135363964 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 186 (K186*)
Ref Sequence ENSEMBL: ENSMUSP00000061597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059352]
Predicted Effect probably null
Transcript: ENSMUST00000059352
AA Change: K186*
SMART Domains Protein: ENSMUSP00000061597
Gene: ENSMUSG00000048096
AA Change: K186*

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,201,269 V1010A possibly damaging Het
4930563D23Rik A G 16: 92,321,319 L27P probably damaging Het
A730071L15Rik A T 11: 6,200,161 probably benign Het
Abca13 A T 11: 9,333,310 N3244I probably benign Het
Adgrf5 A G 17: 43,437,671 T219A probably damaging Het
Adgrg5 A T 8: 94,934,021 N92I probably damaging Het
Agt A C 8: 124,556,955 V475G probably damaging Het
Akap6 A G 12: 52,887,278 K518E possibly damaging Het
Apoh T G 11: 108,404,871 D133E probably benign Het
Axdnd1 T A 1: 156,392,749 M234L possibly damaging Het
Cacna1d A G 14: 30,082,511 I1335T probably damaging Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 K444* probably null Het
Clasp2 A G 9: 113,878,764 I614M probably benign Het
Col6a4 A T 9: 106,063,076 D1218E possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
D130043K22Rik C T 13: 24,883,891 T870M probably damaging Het
Dagla C A 19: 10,248,152 A883S probably benign Het
Dhx30 A G 9: 110,097,195 V87A probably damaging Het
Dtx1 C A 5: 120,710,184 V44L possibly damaging Het
Ecm2 T A 13: 49,530,129 S528T possibly damaging Het
Egfem1 A T 3: 29,582,931 N172I probably damaging Het
Fam102b T A 3: 108,978,848 N356I probably benign Het
Fam13a T G 6: 58,935,609 R686S probably damaging Het
Fmo1 T A 1: 162,836,259 I234L probably benign Het
Foxj2 C T 6: 122,828,372 R68W probably damaging Het
Foxo6 A T 4: 120,268,764 M278K probably benign Het
Fsip2 A G 2: 82,990,431 S5503G probably benign Het
Gdf5 C G 2: 155,942,090 R100G probably benign Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Klhl29 A G 12: 5,091,350 S545P probably damaging Het
Krt83 G T 15: 101,487,827 R296S possibly damaging Het
Llgl1 T G 11: 60,708,812 S509R probably damaging Het
Lrpprc C T 17: 84,726,649 A973T probably damaging Het
Marco T C 1: 120,494,785 H49R possibly damaging Het
Mylk4 T C 13: 32,722,018 N394S probably null Het
Myo5a A G 9: 75,123,040 Y147C probably damaging Het
Myo5a T C 9: 75,151,897 V469A probably damaging Het
Myot A G 18: 44,337,216 T87A probably benign Het
Nav2 A G 7: 49,597,564 H2154R probably damaging Het
Nek10 A G 14: 14,999,112 E1037G possibly damaging Het
Olfr181 A G 16: 58,925,923 V216A probably benign Het
Olfr341 T C 2: 36,479,974 D52G probably damaging Het
Olfr677 A G 7: 105,056,671 T142A probably benign Het
Pitrm1 G T 13: 6,575,092 V869F probably benign Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,937,781 probably benign Het
Prdx1 T G 4: 116,693,800 I156S probably benign Het
Rbks T A 5: 31,665,752 T107S probably damaging Het
Ryr3 G A 2: 112,675,874 R3468W probably damaging Het
Scn1a C T 2: 66,273,469 D1805N probably damaging Het
Sirpa T C 2: 129,615,648 V214A probably benign Het
Slc35c1 T C 2: 92,458,880 N94D probably benign Het
Sorbs2 A T 8: 45,795,370 K553* probably null Het
Tectb C G 19: 55,180,999 probably benign Het
Thg1l A G 11: 45,951,565 V142A probably benign Het
Tiparp T A 3: 65,553,130 Y513* probably null Het
Tmc6 A G 11: 117,772,820 V522A probably benign Het
Trim39 T A 17: 36,269,164 probably benign Het
Trrap G A 5: 144,843,369 probably null Het
Tulp3 C T 6: 128,327,638 V218I probably benign Het
Vmn1r38 T A 6: 66,776,971 I54F probably benign Het
Vmn2r23 T A 6: 123,742,188 Y833* probably null Het
Zfp810 A T 9: 22,279,238 S125T 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
IGL03373:Lmod1 APN 1 135364526 missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- AGGACTCAGACCTGGGCAAG -3'
(R):5'- AGAACCTATGCCCTCATCCT -3'

Sequencing Primer
(F):5'- CCGAAGAAGGGCGTTTTAAAG -3'
(R):5'- GGTTTCTTGTTCTCCTTGCTTGAC -3'
Posted On2014-12-04