Incidental Mutation 'R6518:Lmo1'
ID 520887
Institutional Source Beutler Lab
Gene Symbol Lmo1
Ensembl Gene ENSMUSG00000036111
Gene Name LIM domain only 1
Synonyms Rbtn1, Ttg1, Rbtn-1
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R6518 (G1)
Quality Score 194.009
Status Validated
Chromosome 7
Chromosomal Location 108737776-108774356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108742783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 39 (L39R)
Ref Sequence ENSEMBL: ENSMUSP00000146752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036992] [ENSMUST00000207178] [ENSMUST00000208136]
AlphaFold Q924W9
Predicted Effect probably damaging
Transcript: ENSMUST00000036992
AA Change: L40R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037079
Gene: ENSMUSG00000036111
AA Change: L40R

DomainStartEndE-ValueType
LIM 23 77 8.69e-15 SMART
LIM 87 141 4.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207178
AA Change: L39R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208136
AA Change: L29R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208480
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutant mice show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cdkn1b T A 6: 134,898,283 (GRCm39) M134K probably benign Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lipt1 A G 1: 37,914,856 (GRCm39) N304S probably benign Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Mindy3 T C 2: 12,386,940 (GRCm39) T74A probably damaging Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or11a4 G T 17: 37,536,159 (GRCm39) A48S probably benign Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Pias1 A G 9: 62,859,142 (GRCm39) L113P probably damaging Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R probably damaging Het
Other mutations in Lmo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Lmo1 APN 7 108,742,657 (GRCm39) splice site probably benign
minikin UTSW 7 108,742,783 (GRCm39) missense probably damaging 1.00
R2507:Lmo1 UTSW 7 108,739,848 (GRCm39) missense probably damaging 1.00
R6229:Lmo1 UTSW 7 108,742,832 (GRCm39) missense probably damaging 1.00
R7312:Lmo1 UTSW 7 108,742,819 (GRCm39) missense probably benign 0.01
R7454:Lmo1 UTSW 7 108,739,873 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGAAGGAGCATTCGCACAGC -3'
(R):5'- TACTTGACCCGTTCCCTGGAAG -3'

Sequencing Primer
(F):5'- CAAGCTGCCTGGTTTAGAGCTC -3'
(R):5'- CCTGGAAGGGGGTGGTGC -3'
Posted On 2018-06-06