Incidental Mutation 'R5316:Lemd3'
ID 405835
Institutional Source Beutler Lab
Gene Symbol Lemd3
Ensembl Gene ENSMUSG00000048661
Gene Name LEM domain containing 3
Synonyms Man1
MMRRC Submission 042899-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5316 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 120759318-120815237 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 120788161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119093] [ENSMUST00000119093] [ENSMUST00000119944] [ENSMUST00000119944]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000119093
SMART Domains Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661

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: ENSMUST00000119093
SMART Domains Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661

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
SMART Domains Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661

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
Predicted Effect probably null
Transcript: ENSMUST00000119944
SMART Domains Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Agap2 G A 10: 126,918,296 (GRCm39) probably null Het
Apol10a A G 15: 77,372,729 (GRCm39) T122A probably damaging Het
Arhgap17 G T 7: 122,895,750 (GRCm39) A458D possibly damaging Het
Cd80 C T 16: 38,294,239 (GRCm39) Q41* probably null Het
Cmss1 T G 16: 57,122,638 (GRCm39) K252T probably damaging Het
Cog2 A G 8: 125,255,779 (GRCm39) D122G probably benign Het
Dsc3 T A 18: 20,096,598 (GRCm39) D841V possibly damaging Het
Dst C A 1: 34,262,929 (GRCm39) Q4549K probably damaging Het
Efcab3 A G 11: 104,967,286 (GRCm39) I5275M possibly damaging Het
Epha6 A G 16: 59,775,083 (GRCm39) L711P probably damaging Het
Gabrg2 T A 11: 41,867,385 (GRCm39) N78I probably damaging Het
H1f1 C T 13: 23,948,085 (GRCm39) probably benign Het
Htra3 T C 5: 35,821,420 (GRCm39) D319G probably damaging Het
Jph1 T C 1: 17,161,750 (GRCm39) Y304C probably damaging Het
Kat2a G T 11: 100,602,996 (GRCm39) Q79K possibly damaging Het
Klhl7 C T 5: 24,332,748 (GRCm39) A102V probably benign Het
Lamb3 A G 1: 193,012,501 (GRCm39) H426R probably benign Het
Mcm3ap A C 10: 76,306,760 (GRCm39) D291A possibly damaging Het
Micos13 G A 17: 56,916,649 (GRCm39) S7L possibly damaging Het
Mme C G 3: 63,276,375 (GRCm39) F717L probably damaging Het
Mybpc2 T A 7: 44,169,806 (GRCm39) K171* probably null Het
Naip6 T C 13: 100,420,290 (GRCm39) N1327D probably benign Het
Nr2e1 A T 10: 42,447,487 (GRCm39) M175K probably benign Het
Or8a1b A T 9: 37,622,981 (GRCm39) V198D possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppef2 A T 5: 92,383,670 (GRCm39) M480K probably benign Het
Prkar2b A T 12: 32,110,984 (GRCm39) L33Q probably damaging Het
Ralgps2 A T 1: 156,641,067 (GRCm39) V496E probably damaging Het
Rbms2 G A 10: 127,981,606 (GRCm39) P81L probably damaging Het
Scara5 T C 14: 65,927,264 (GRCm39) S54P possibly damaging Het
Slc18a3 T C 14: 32,184,814 (GRCm39) D523G probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Srrt C A 5: 137,294,813 (GRCm39) A747S probably benign Het
Sycp2 C T 2: 177,998,296 (GRCm39) D1075N probably benign Het
Tasor A G 14: 27,193,992 (GRCm39) D1064G possibly damaging Het
Vat1l G A 8: 115,011,088 (GRCm39) V279I probably damaging Het
Zfp677 A G 17: 21,617,410 (GRCm39) K156E 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
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
R7213:Lemd3 UTSW 10 120,814,145 (GRCm39) nonsense probably null
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'- TCAGGAGCAGCTCTACATCAGAC -3'
(R):5'- TAACCCTGGCTTTCAGTTGTG -3'

Sequencing Primer
(F):5'- GGAGCAGCTCTACATCAGACATAATG -3'
(R):5'- CTTTCAGTTGTGATGGCGAAAACC -3'
Posted On 2016-07-22