Incidental Mutation 'IGL00929:Lemd1'
ID26652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lemd1
Ensembl Gene ENSMUSG00000079330
Gene NameLEM domain containing 1
SynonymsLEMP-1, 6430514M23Rik, 4930540I23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00929
Quality Score
Status
Chromosome1
Chromosomal Location132191431-132259227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132256709 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 73 (D73G)
Ref Sequence ENSEMBL: ENSMUSP00000107976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112357] [ENSMUST00000185436] [ENSMUST00000187339] [ENSMUST00000188169] [ENSMUST00000191418]
Predicted Effect probably benign
Transcript: ENSMUST00000112357
AA Change: D73G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107976
Gene: ENSMUSG00000079330
AA Change: D73G

DomainStartEndE-ValueType
Pfam:LEM 3 42 9.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185436
SMART Domains Protein: ENSMUSP00000140418
Gene: ENSMUSG00000079330

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187339
SMART Domains Protein: ENSMUSP00000139708
Gene: ENSMUSG00000079330

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
Predicted Effect unknown
Transcript: ENSMUST00000188169
AA Change: T97A
SMART Domains Protein: ENSMUSP00000140524
Gene: ENSMUSG00000079330
AA Change: T97A

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
low complexity region 81 100 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000191418
SMART Domains Protein: ENSMUSP00000140193
Gene: ENSMUSG00000079330

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
low complexity region 81 92 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 A T 12: 30,904,900 H67Q probably damaging Het
Ankrd13b A G 11: 77,472,752 S247P probably damaging Het
Aqp4 C T 18: 15,393,599 G275E probably benign Het
Arhgef15 A T 11: 68,954,102 L223Q probably damaging Het
Asb13 A G 13: 3,649,427 Y209C probably damaging Het
Cdk18 A G 1: 132,118,519 probably null Het
Cntnap5a G A 1: 116,060,274 probably null Het
Cops6 A G 5: 138,161,386 M1V probably null Het
Dab2ip A T 2: 35,708,877 M137L possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lpin1 G A 12: 16,573,699 S228L probably benign Het
Mtmr9 A G 14: 63,543,497 L48P probably damaging Het
Ncoa3 T A 2: 166,051,609 probably null Het
Ndc1 T A 4: 107,389,497 N372K probably benign Het
Ndufa2 A G 18: 36,744,175 probably benign Het
Nmt1 A T 11: 103,060,076 probably null Het
Olfr593 A T 7: 103,212,685 H264L probably damaging Het
Pcdhgb6 T C 18: 37,743,705 Y489H probably damaging Het
Rttn A T 18: 89,028,935 K907M probably damaging Het
Soga3 C A 10: 29,148,292 N401K probably damaging Het
Sos1 T C 17: 80,408,596 Y979C probably damaging Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Stt3b A T 9: 115,266,165 I266N probably damaging Het
Tet3 A G 6: 83,368,655 L1600P probably benign Het
Tiam1 T A 16: 89,794,739 I1358F probably damaging Het
Usp37 G T 1: 74,490,154 T122N probably benign Het
Vit T C 17: 78,579,401 S153P probably damaging Het
Other mutations in Lemd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1742:Lemd1 UTSW 1 132228298 missense probably damaging 1.00
R2212:Lemd1 UTSW 1 132228286 missense probably benign 0.11
R6009:Lemd1 UTSW 1 132228252 nonsense probably null
R6014:Lemd1 UTSW 1 132256725 makesense probably null
R7163:Lemd1 UTSW 1 132256737 missense probably benign 0.11
Posted On2013-04-17