Incidental Mutation 'IGL02903:Lemd2'
ID363715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lemd2
Ensembl Gene ENSMUSG00000044857
Gene NameLEM domain containing 2
SynonymsNET25, Lem2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02903
Quality Score
Status
Chromosome17
Chromosomal Location27189601-27204438 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 27193210 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055117]
Predicted Effect probably benign
Transcript: ENSMUST00000055117
SMART Domains Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857

DomainStartEndE-ValueType
LEM 1 42 2.19e-16 SMART
low complexity region 65 86 N/A INTRINSIC
low complexity region 91 112 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
transmembrane domain 221 239 N/A INTRINSIC
Pfam:MSC 251 503 7.3e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Lemd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Lemd2 APN 17 27190728 missense probably damaging 1.00
IGL02161:Lemd2 APN 17 27190651 missense probably damaging 1.00
R0078:Lemd2 UTSW 17 27203728 missense probably benign 0.17
R0458:Lemd2 UTSW 17 27190653 missense probably damaging 0.99
R1396:Lemd2 UTSW 17 27190732 missense probably damaging 1.00
R3106:Lemd2 UTSW 17 27201670 missense probably damaging 1.00
R4319:Lemd2 UTSW 17 27201677 missense possibly damaging 0.87
R4930:Lemd2 UTSW 17 27193832 splice site probably null
R5172:Lemd2 UTSW 17 27195382 nonsense probably null
R5239:Lemd2 UTSW 17 27203799 missense possibly damaging 0.53
R6005:Lemd2 UTSW 17 27190785 missense probably damaging 1.00
R6196:Lemd2 UTSW 17 27193002 nonsense probably null
R6621:Lemd2 UTSW 17 27195392 missense probably benign 0.01
R7208:Lemd2 UTSW 17 27196191 missense probably damaging 1.00
R7552:Lemd2 UTSW 17 27193836 critical splice donor site probably null
R7558:Lemd2 UTSW 17 27204163 missense probably benign 0.04
Posted On2015-12-18