Incidental Mutation 'R2212:Lemd1'
ID 239425
Institutional Source Beutler Lab
Gene Symbol Lemd1
Ensembl Gene ENSMUSG00000079330
Gene Name LEM domain containing 1
Synonyms 6430514M23Rik, 4930540I23Rik, LEMP-1
MMRRC Submission 040214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2212 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 132118361-132185120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132156024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 22 (T22K)
Ref Sequence ENSEMBL: ENSMUSP00000140524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086544] [ENSMUST00000112357] [ENSMUST00000185436] [ENSMUST00000187339] [ENSMUST00000188169] [ENSMUST00000191418]
AlphaFold Q14C37
Predicted Effect probably benign
Transcript: ENSMUST00000086544
SMART Domains Protein: ENSMUSP00000083731
Gene: ENSMUSG00000066936

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112357
AA Change: T22K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107976
Gene: ENSMUSG00000079330
AA Change: T22K

DomainStartEndE-ValueType
Pfam:LEM 3 42 9.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185436
AA Change: T22K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140418
Gene: ENSMUSG00000079330
AA Change: T22K

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187339
AA Change: T22K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139708
Gene: ENSMUSG00000079330
AA Change: T22K

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188169
AA Change: T22K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140524
Gene: ENSMUSG00000079330
AA Change: T22K

DomainStartEndE-ValueType
LEM 2 45 1.1e-9 SMART
low complexity region 81 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189086
Predicted Effect probably benign
Transcript: ENSMUST00000191418
AA Change: T22K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140193
Gene: ENSMUSG00000079330
AA Change: T22K

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,603,977 (GRCm39) Y6C probably damaging Het
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Angptl4 A G 17: 33,994,392 (GRCm39) I401T probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Cibar1 A G 4: 12,171,696 (GRCm39) probably null Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Cyp4f39 A T 17: 32,706,037 (GRCm39) E376V possibly damaging Het
Deup1 A T 9: 15,511,139 (GRCm39) D213E probably benign Het
Ehmt2 A G 17: 35,118,341 (GRCm39) S39G probably benign Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscn2 G T 11: 120,252,417 (GRCm39) probably benign Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
H2-M11 G A 17: 36,859,822 (GRCm39) V272M probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Kcnq3 A T 15: 65,892,142 (GRCm39) F411Y probably benign Het
Kcnt2 A G 1: 140,458,538 (GRCm39) Y775C probably damaging Het
Krt84 A C 15: 101,440,973 (GRCm39) V73G probably benign Het
Lcp2 A C 11: 34,020,995 (GRCm39) D117A probably benign Het
Mdm4 T C 1: 132,922,260 (GRCm39) D294G probably damaging Het
Mep1a G A 17: 43,788,154 (GRCm39) A634V probably benign Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nsmaf C A 4: 6,396,732 (GRCm39) L918F probably damaging Het
Or10d4 T A 9: 39,580,524 (GRCm39) M57K probably damaging Het
Or2v2 C T 11: 49,004,043 (GRCm39) C170Y probably damaging Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Pfkfb2 A T 1: 130,635,269 (GRCm39) N97K probably damaging Het
Phlda1 A T 10: 111,343,029 (GRCm39) E255V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppargc1b G A 18: 61,444,291 (GRCm39) Q291* probably null Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Ppp1r3b A G 8: 35,851,379 (GRCm39) T73A possibly damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Serpina3j G A 12: 104,280,985 (GRCm39) D53N probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Spryd3 A G 15: 102,038,711 (GRCm39) probably null Het
Sry T A Y: 2,663,339 (GRCm39) N107I probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syt1 G T 10: 108,340,275 (GRCm39) P348T possibly damaging Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trim59 T C 3: 68,944,876 (GRCm39) T155A probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubash3a A T 17: 31,437,008 (GRCm39) Q208H probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Vmn2r110 A T 17: 20,794,209 (GRCm39) probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Lemd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Lemd1 APN 1 132,184,447 (GRCm39) missense probably benign 0.00
R1742:Lemd1 UTSW 1 132,156,036 (GRCm39) missense probably damaging 1.00
R6009:Lemd1 UTSW 1 132,155,990 (GRCm39) nonsense probably null
R6014:Lemd1 UTSW 1 132,184,463 (GRCm39) makesense probably null
R7163:Lemd1 UTSW 1 132,184,475 (GRCm39) missense probably benign 0.11
R8371:Lemd1 UTSW 1 132,156,687 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCAGGTGTGAGTCTAGC -3'
(R):5'- GTAAGGGCCTAGACTGTCTGCTAC -3'

Sequencing Primer
(F):5'- GCGGTAGTATTTATTTGTGAAACGAC -3'
(R):5'- GCCTAGACTGTCTGCTACCTCTTC -3'
Posted On 2014-10-15