Incidental Mutation 'IGL01791:Lemd2'
ID 155229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lemd2
Ensembl Gene ENSMUSG00000044857
Gene Name LEM domain containing 2
Synonyms NET25, Lem2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01791
Quality Score
Status
Chromosome 17
Chromosomal Location 27408574-27423443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27409702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 483 (I483N)
Ref Sequence ENSEMBL: ENSMUSP00000058221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055117]
AlphaFold Q6DVA0
Predicted Effect probably damaging
Transcript: ENSMUST00000055117
AA Change: I483N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: I483N

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 A G 9: 32,158,486 (GRCm39) I174V probably damaging Het
Asb15 T A 6: 24,567,211 (GRCm39) C511S probably damaging Het
Atr C T 9: 95,803,834 (GRCm39) A1896V probably benign Het
B3gnt4 C T 5: 123,649,162 (GRCm39) R176C probably damaging Het
Brf1 T C 12: 112,926,095 (GRCm39) D557G probably benign Het
Catsperg2 T A 7: 29,404,090 (GRCm39) probably null Het
Cdip1 A G 16: 4,586,729 (GRCm39) I122T probably damaging Het
Ctrl C T 8: 106,659,199 (GRCm39) E147K probably benign Het
Dennd2c T C 3: 103,073,741 (GRCm39) V829A probably benign Het
Dync1h1 T A 12: 110,625,364 (GRCm39) L3874Q probably damaging Het
Dynlt4 T A 4: 116,985,794 (GRCm39) S206T probably damaging Het
Gm10521 T C 1: 171,723,964 (GRCm39) S92P unknown Het
Gm57858 T C 3: 36,089,416 (GRCm39) probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hddc2 A G 10: 31,202,022 (GRCm39) Y123C probably damaging Het
Hyal4 T C 6: 24,763,894 (GRCm39) probably benign Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Ing2 A T 8: 48,122,070 (GRCm39) S159R probably benign Het
Itga1 A T 13: 115,124,197 (GRCm39) N698K probably benign Het
Lyst T C 13: 13,809,887 (GRCm39) L519P probably damaging Het
Mapk10 T C 5: 103,144,514 (GRCm39) N101S probably damaging Het
Nfatc4 A T 14: 56,069,695 (GRCm39) E164V probably null Het
Nfkb2 T G 19: 46,298,278 (GRCm39) probably benign Het
Nox3 A G 17: 3,733,218 (GRCm39) V231A possibly damaging Het
Nup160 G A 2: 90,534,197 (GRCm39) G674D probably damaging Het
Or1l4b A T 2: 37,036,548 (GRCm39) D108V probably damaging Het
Or56b1 C T 7: 104,285,682 (GRCm39) T267I possibly damaging Het
Otoa T G 7: 120,755,072 (GRCm39) V998G probably benign Het
Pcnx3 A T 19: 5,723,295 (GRCm39) M1300K probably benign Het
Pde4b A G 4: 102,448,127 (GRCm39) probably benign Het
Rfc1 T A 5: 65,420,488 (GRCm39) K1104I probably benign Het
Serpina1f G T 12: 103,659,761 (GRCm39) Q174K probably damaging Het
Serping1 T C 2: 84,603,721 (GRCm39) N107D possibly damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Surf6 A G 2: 26,789,759 (GRCm39) S94P probably benign Het
Tigd4 T A 3: 84,502,052 (GRCm39) I323N probably damaging Het
Vmn2r28 T C 7: 5,491,161 (GRCm39) D362G probably benign Het
Wdfy3 A G 5: 102,085,278 (GRCm39) S739P probably damaging Het
Other mutations in Lemd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Lemd2 APN 17 27,409,625 (GRCm39) missense probably damaging 1.00
IGL02903:Lemd2 APN 17 27,412,184 (GRCm39) splice site probably benign
R0078:Lemd2 UTSW 17 27,422,702 (GRCm39) missense probably benign 0.17
R0458:Lemd2 UTSW 17 27,409,627 (GRCm39) missense probably damaging 0.99
R1396:Lemd2 UTSW 17 27,409,706 (GRCm39) missense probably damaging 1.00
R3106:Lemd2 UTSW 17 27,420,644 (GRCm39) missense probably damaging 1.00
R4319:Lemd2 UTSW 17 27,420,651 (GRCm39) missense possibly damaging 0.87
R4930:Lemd2 UTSW 17 27,412,806 (GRCm39) splice site probably null
R5172:Lemd2 UTSW 17 27,414,356 (GRCm39) nonsense probably null
R5239:Lemd2 UTSW 17 27,422,773 (GRCm39) missense possibly damaging 0.53
R6005:Lemd2 UTSW 17 27,409,759 (GRCm39) missense probably damaging 1.00
R6196:Lemd2 UTSW 17 27,411,976 (GRCm39) nonsense probably null
R6621:Lemd2 UTSW 17 27,414,366 (GRCm39) missense probably benign 0.01
R7208:Lemd2 UTSW 17 27,415,165 (GRCm39) missense probably damaging 1.00
R7552:Lemd2 UTSW 17 27,412,810 (GRCm39) critical splice donor site probably null
R7558:Lemd2 UTSW 17 27,423,137 (GRCm39) missense probably benign 0.04
R9054:Lemd2 UTSW 17 27,423,069 (GRCm39) missense probably benign
R9309:Lemd2 UTSW 17 27,411,936 (GRCm39) missense probably damaging 0.99
Posted On 2014-02-04