Incidental Mutation 'R7483:Lmo3'
ID 579916
Institutional Source Beutler Lab
Gene Symbol Lmo3
Ensembl Gene ENSMUSG00000030226
Gene Name LIM domain only 3
Synonyms Rbtn-3, Rbtn3
MMRRC Submission 045557-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.749) question?
Stock # R7483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 138339916-138558966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138393500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 40 (C40Y)
Ref Sequence ENSEMBL: ENSMUSP00000125335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160050] [ENSMUST00000161450] [ENSMUST00000162185] [ENSMUST00000162772] [ENSMUST00000162932] [ENSMUST00000163024] [ENSMUST00000163065] [ENSMUST00000203435]
AlphaFold Q8BZL8
Predicted Effect probably damaging
Transcript: ENSMUST00000160050
AA Change: C40Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124722
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 59 7.82e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161450
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124862
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162185
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124105
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 108 6.02e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162772
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125335
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162932
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124514
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163024
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125589
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163065
AA Change: C51Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124762
Gene: ENSMUSG00000030226
AA Change: C51Y

DomainStartEndE-ValueType
LIM 23 77 8.69e-15 SMART
LIM 87 141 3.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203435
AA Change: C40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145048
Gene: ENSMUSG00000030226
AA Change: C40Y

DomainStartEndE-ValueType
LIM 12 66 8.69e-15 SMART
LIM 76 130 3.12e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,794,075 (GRCm39) probably null Het
Ahnak T C 19: 8,982,186 (GRCm39) S1157P probably damaging Het
Akap12 T G 10: 4,303,967 (GRCm39) V364G probably benign Het
Ankrd17 A G 5: 90,447,855 (GRCm39) S229P probably benign Het
Apof A T 10: 128,104,636 (GRCm39) Y5F probably benign Het
Arhgap24 T A 5: 102,989,174 (GRCm39) M94K probably benign Het
Ash2l G T 8: 26,312,798 (GRCm39) D479E probably damaging Het
Atp8a2 A T 14: 60,245,824 (GRCm39) C623S probably benign Het
Bmper T A 9: 23,395,238 (GRCm39) N656K probably benign Het
Braf T C 6: 39,604,772 (GRCm39) I619V possibly damaging Het
Brwd1 T C 16: 95,857,373 (GRCm39) R396G probably damaging Het
Car7 A T 8: 105,276,216 (GRCm39) T234S probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cemip T G 7: 83,647,784 (GRCm39) I99L probably damaging Het
Chrna7 C A 7: 62,754,738 (GRCm39) V290L probably damaging Het
Clip1 A T 5: 123,755,447 (GRCm39) D944E probably benign Het
Cplane2 A G 4: 140,947,153 (GRCm39) D178G probably damaging Het
Cyp2c68 T C 19: 39,677,581 (GRCm39) T470A probably benign Het
Dmbx1 G T 4: 115,780,908 (GRCm39) A31D probably damaging Het
Dnah7b T C 1: 46,214,579 (GRCm39) F1115L probably damaging Het
Dock10 T C 1: 80,493,283 (GRCm39) I1897V probably benign Het
Efcab3 A G 11: 105,000,112 (GRCm39) I234V probably benign Het
Eid2b T G 7: 27,977,243 (GRCm39) L13R probably damaging Het
Enam A G 5: 88,649,679 (GRCm39) Y396C probably damaging Het
Fam161a A T 11: 22,971,006 (GRCm39) T395S probably damaging Het
Fat1 A G 8: 45,476,197 (GRCm39) R1748G probably benign Het
Fdxacb1 C A 9: 50,681,451 (GRCm39) T124K possibly damaging Het
Fer1l6 A T 15: 58,513,794 (GRCm39) D1563V possibly damaging Het
Gm20834 T C Y: 10,323,226 (GRCm39) H70R probably damaging Het
Gucy2d T A 7: 98,098,964 (GRCm39) M261K probably damaging Het
Hcar2 T A 5: 124,002,861 (GRCm39) Q214L probably benign Het
Hdac11 C T 6: 91,136,214 (GRCm39) H75Y probably damaging Het
Hoxa2 C A 6: 52,141,279 (GRCm39) A116S probably benign Het
Ints2 A G 11: 86,106,444 (GRCm39) C989R probably damaging Het
Jpt1 T C 11: 115,393,950 (GRCm39) E36G probably damaging Het
Kdm5d G A Y: 914,044 (GRCm39) R327Q possibly damaging Het
Klhl1 T C 14: 96,584,304 (GRCm39) M309V probably benign Het
Larp4 A G 15: 99,889,659 (GRCm39) K193E probably benign Het
Mcm4 A G 16: 15,448,306 (GRCm39) V417A probably benign Het
Med8 A G 4: 118,268,176 (GRCm39) E34G probably damaging Het
Mex3b G T 7: 82,517,114 (GRCm39) A86S possibly damaging Het
Muc6 T C 7: 141,224,245 (GRCm39) T1646A unknown Het
Myo15b A T 11: 115,749,570 (GRCm39) E113D Het
Myo7a T A 7: 97,712,881 (GRCm39) H1698L probably benign Het
Myocos T A 1: 162,484,678 (GRCm39) M44L unknown Het
Nalcn A G 14: 123,551,499 (GRCm39) V1036A probably damaging Het
Nfrkb C T 9: 31,325,328 (GRCm39) Q924* probably null Het
Nol6 A G 4: 41,117,424 (GRCm39) L923P possibly damaging Het
Nrxn3 T C 12: 89,477,232 (GRCm39) Y472H probably damaging Het
Nudcd1 A G 15: 44,269,253 (GRCm39) Y136H possibly damaging Het
Obox2 T C 7: 15,131,241 (GRCm39) C116R probably damaging Het
Onecut3 A T 10: 80,331,310 (GRCm39) S157C unknown Het
Or10ak11 A G 4: 118,687,517 (GRCm39) V39A probably damaging Het
Or11g27 T A 14: 50,771,472 (GRCm39) V201D probably benign Het
Or2d2b T A 7: 106,705,982 (GRCm39) I29F probably benign Het
Or4f15 T C 2: 111,814,124 (GRCm39) I98M probably damaging Het
Oscp1 C T 4: 125,967,726 (GRCm39) R91* probably null Het
Pclo A T 5: 14,762,606 (GRCm39) D408V Het
Pde8a T C 7: 80,932,581 (GRCm39) V81A probably benign Het
Pde8b T A 13: 95,164,251 (GRCm39) D653V probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pik3cg T C 12: 32,245,647 (GRCm39) Y867C probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Psd4 A T 2: 24,294,768 (GRCm39) D776V possibly damaging Het
Ptprb A G 10: 116,119,334 (GRCm39) E156G probably benign Het
Rad54b A G 4: 11,610,372 (GRCm39) Y663C probably damaging Het
Ranbp3l T A 15: 9,030,955 (GRCm39) V78D possibly damaging Het
Rbm12 T C 2: 155,940,138 (GRCm39) I45V unknown Het
Scn9a A G 2: 66,363,692 (GRCm39) V862A probably damaging Het
Sdcbp T C 4: 6,393,089 (GRCm39) I242T possibly damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc45a3 G T 1: 131,904,549 (GRCm39) probably benign Het
Srpk1 T C 17: 28,813,192 (GRCm39) I517M probably benign Het
Tmx4 A G 2: 134,481,581 (GRCm39) M114T probably benign Het
Trhr T A 15: 44,092,627 (GRCm39) V288D probably damaging Het
Tspoap1 A T 11: 87,652,351 (GRCm39) I42F probably benign Het
Ttn A T 2: 76,781,856 (GRCm39) D1063E unknown Het
Tusc3 A G 8: 39,538,635 (GRCm39) I225V probably benign Het
Ugt2b38 A G 5: 87,571,973 (GRCm39) S20P probably damaging Het
Upf2 A G 2: 6,032,219 (GRCm39) T922A unknown Het
Usp38 C T 8: 81,741,190 (GRCm39) probably benign Het
Vmn1r216 A G 13: 23,283,738 (GRCm39) I140M probably damaging Het
Vmn2r115 T A 17: 23,565,371 (GRCm39) N419K possibly damaging Het
Vmn2r55 C T 7: 12,404,755 (GRCm39) G216D probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt7b C A 15: 85,421,615 (GRCm39) R349L possibly damaging Het
Xbp1 T C 11: 5,471,098 (GRCm39) V35A probably benign Het
Zan A T 5: 137,445,057 (GRCm39) M1734K unknown Het
Zfhx4 A G 3: 5,477,237 (GRCm39) E3284G probably damaging Het
Zfp458 A G 13: 67,404,978 (GRCm39) L487S possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zp1 A G 19: 10,895,280 (GRCm39) L324P possibly damaging Het
Other mutations in Lmo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Lmo3 APN 6 138,393,495 (GRCm39) missense probably damaging 1.00
IGL03196:Lmo3 APN 6 138,342,993 (GRCm39) missense probably benign 0.05
R0319:Lmo3 UTSW 6 138,354,309 (GRCm39) missense probably damaging 1.00
R2119:Lmo3 UTSW 6 138,393,492 (GRCm39) missense probably damaging 1.00
R6860:Lmo3 UTSW 6 138,393,566 (GRCm39) missense possibly damaging 0.83
R7318:Lmo3 UTSW 6 138,398,363 (GRCm39) intron probably benign
R7443:Lmo3 UTSW 6 138,354,220 (GRCm39) missense probably damaging 1.00
R9367:Lmo3 UTSW 6 138,342,958 (GRCm39) nonsense probably null
R9500:Lmo3 UTSW 6 138,393,621 (GRCm39) missense
X0027:Lmo3 UTSW 6 138,393,482 (GRCm39) missense probably damaging 1.00
Z1177:Lmo3 UTSW 6 138,393,498 (GRCm39) missense probably benign 0.10
Z1177:Lmo3 UTSW 6 138,393,494 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACACCAGTCGGCAGTTACG -3'
(R):5'- AGGTAGCCTTTTATCATTTCACTTG -3'

Sequencing Primer
(F):5'- TCGGCAGTTACGGAAAGC -3'
(R):5'- TGTCTGTCCTTCTGTCTTGGAATC -3'
Posted On 2019-10-07