Incidental Mutation 'R7213:Lemd3'
ID 561227
Institutional Source Beutler Lab
Gene Symbol Lemd3
Ensembl Gene ENSMUSG00000048661
Gene Name LEM domain containing 3
Synonyms Man1
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 120759318-120815237 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 120814145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 363 (R363*)
Ref Sequence ENSEMBL: ENSMUSP00000113103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119093] [ENSMUST00000119944]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000119093
AA Change: R363*
SMART Domains Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661
AA Change: R363*

DomainStartEndE-ValueType
LEM 8 51 1.01e-20 SMART
low complexity region 66 87 N/A INTRINSIC
low complexity region 106 129 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 169 176 N/A INTRINSIC
low complexity region 195 229 N/A INTRINSIC
low complexity region 258 272 N/A INTRINSIC
low complexity region 346 355 N/A INTRINSIC
low complexity region 366 384 N/A INTRINSIC
low complexity region 418 429 N/A INTRINSIC
low complexity region 451 462 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Pfam:MSC 526 779 8.9e-25 PFAM
PDB:4OZ1|B 812 919 2e-23 PDB
SCOP:d1jmta_ 813 894 6e-7 SMART
Blast:RRM 814 893 4e-49 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000119944
AA Change: R363*
SMART Domains Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661
AA Change: R363*

DomainStartEndE-ValueType
LEM 8 51 1.01e-20 SMART
low complexity region 66 87 N/A INTRINSIC
low complexity region 106 129 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 169 176 N/A INTRINSIC
low complexity region 195 229 N/A INTRINSIC
low complexity region 258 272 N/A INTRINSIC
low complexity region 346 355 N/A INTRINSIC
low complexity region 366 384 N/A INTRINSIC
low complexity region 418 429 N/A INTRINSIC
low complexity region 451 462 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Pfam:MSC 518 758 5.7e-57 PFAM
PDB:4OZ1|B 790 897 2e-23 PDB
SCOP:d1jmta_ 791 872 5e-7 SMART
Blast:RRM 792 871 4e-49 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at midgestation, defects in vascular remodeling and increased apoptosis in embryos, particularly in mesenchymal tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably damaging Het
Other mutations in Lemd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01488:Lemd3 APN 10 120,769,304 (GRCm39) nonsense probably null
IGL01733:Lemd3 APN 10 120,769,568 (GRCm39) nonsense probably null
IGL02127:Lemd3 APN 10 120,761,933 (GRCm39) missense possibly damaging 0.58
IGL02171:Lemd3 APN 10 120,769,527 (GRCm39) splice site probably benign
Culebra UTSW 10 120,769,538 (GRCm39) missense probably damaging 1.00
R2044_Lemd3_698 UTSW 10 120,769,347 (GRCm39) missense probably damaging 1.00
R0037:Lemd3 UTSW 10 120,761,361 (GRCm39) missense possibly damaging 0.95
R0309:Lemd3 UTSW 10 120,773,015 (GRCm39) missense possibly damaging 0.71
R0829:Lemd3 UTSW 10 120,814,988 (GRCm39) missense probably benign
R1171:Lemd3 UTSW 10 120,785,246 (GRCm39) missense possibly damaging 0.90
R1382:Lemd3 UTSW 10 120,767,641 (GRCm39) missense probably damaging 0.99
R1954:Lemd3 UTSW 10 120,814,845 (GRCm39) missense probably damaging 0.99
R2044:Lemd3 UTSW 10 120,769,347 (GRCm39) missense probably damaging 1.00
R2197:Lemd3 UTSW 10 120,814,432 (GRCm39) small deletion probably benign
R3118:Lemd3 UTSW 10 120,783,156 (GRCm39) missense probably benign 0.00
R3697:Lemd3 UTSW 10 120,814,432 (GRCm39) small deletion probably benign
R3729:Lemd3 UTSW 10 120,763,920 (GRCm39) missense probably damaging 1.00
R4407:Lemd3 UTSW 10 120,761,335 (GRCm39) missense possibly damaging 0.93
R4429:Lemd3 UTSW 10 120,813,893 (GRCm39) missense probably benign 0.00
R4830:Lemd3 UTSW 10 120,767,853 (GRCm39) missense probably damaging 0.99
R5316:Lemd3 UTSW 10 120,788,161 (GRCm39) critical splice acceptor site probably null
R5355:Lemd3 UTSW 10 120,769,538 (GRCm39) missense probably damaging 1.00
R5404:Lemd3 UTSW 10 120,767,863 (GRCm39) nonsense probably null
R6754:Lemd3 UTSW 10 120,769,565 (GRCm39) missense probably damaging 1.00
R7007:Lemd3 UTSW 10 120,788,137 (GRCm39) missense probably benign 0.28
R7699:Lemd3 UTSW 10 120,813,995 (GRCm39) missense probably damaging 0.99
R7700:Lemd3 UTSW 10 120,813,995 (GRCm39) missense probably damaging 0.99
R7781:Lemd3 UTSW 10 120,761,678 (GRCm39) missense probably damaging 1.00
R8681:Lemd3 UTSW 10 120,767,728 (GRCm39) missense possibly damaging 0.80
R9031:Lemd3 UTSW 10 120,767,878 (GRCm39) missense possibly damaging 0.94
R9274:Lemd3 UTSW 10 120,814,717 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTGATCCTGAGTGTGCCAGG -3'
(R):5'- GCGCTGACTGCTAAATCTGG -3'

Sequencing Primer
(F):5'- CGCCGCCTATGTGATTATT -3'
(R):5'- ACTGCTAAATCTGGCGGCAG -3'
Posted On 2019-06-26