Incidental Mutation 'IGL02881:Lmna'
ID 362796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmna
Ensembl Gene ENSMUSG00000028063
Gene Name lamin A
Synonyms lamin A/C, Dhe
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02881
Quality Score
Chromosome 3
Chromosomal Location 88388455-88413842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88410233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 60 (R60S)
Ref Sequence ENSEMBL: ENSMUSP00000120784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029699] [ENSMUST00000120377] [ENSMUST00000149068]
AlphaFold P48678
Predicted Effect probably benign
Transcript: ENSMUST00000029699
AA Change: R60S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029699
Gene: ENSMUSG00000028063
AA Change: R60S

Filament 30 386 4.38e-45 SMART
low complexity region 395 414 N/A INTRINSIC
low complexity region 422 431 N/A INTRINSIC
Pfam:LTD 433 544 4e-15 PFAM
low complexity region 551 562 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
low complexity region 600 639 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120377
AA Change: R60S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113093
Gene: ENSMUSG00000028063
AA Change: R60S

Pfam:Filament 30 386 1.3e-95 PFAM
low complexity region 395 414 N/A INTRINSIC
Pfam:LTD 429 548 1.7e-22 PFAM
low complexity region 551 562 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135494
Predicted Effect possibly damaging
Transcript: ENSMUST00000149068
AA Change: R60S

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120784
Gene: ENSMUSG00000028063
AA Change: R60S

Pfam:Filament 30 117 1.7e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,605,999 (GRCm39) probably benign Het
Aatf A G 11: 84,362,115 (GRCm39) probably benign Het
Asap3 A T 4: 135,966,548 (GRCm39) H542L probably benign Het
Cyp4v3 A T 8: 45,761,753 (GRCm39) L389H probably damaging Het
Dnah17 C T 11: 117,932,944 (GRCm39) E3605K probably damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Glul C A 1: 153,782,862 (GRCm39) T191K probably benign Het
Grsf1 A T 5: 88,821,689 (GRCm39) L125Q probably damaging Het
Hfm1 A G 5: 107,022,118 (GRCm39) I976T probably damaging Het
Itgb5 A G 16: 33,740,275 (GRCm39) T462A probably benign Het
Mrpl10 T A 11: 96,937,899 (GRCm39) V89D probably damaging Het
Muc5b C T 7: 141,411,449 (GRCm39) T1465I unknown Het
Myh15 A C 16: 48,937,628 (GRCm39) D743A possibly damaging Het
Noxo1 C A 17: 24,918,409 (GRCm39) L190I probably damaging Het
Noxo1 T A 17: 24,918,410 (GRCm39) L190Q probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,050 (GRCm39) Y123N probably damaging Het
Or4c121 T A 2: 89,023,985 (GRCm39) Y131F probably damaging Het
Or5m13 A G 2: 85,748,460 (GRCm39) S64G probably benign Het
Or8h8 A G 2: 86,753,057 (GRCm39) V273A possibly damaging Het
Pfkfb4 A G 9: 108,836,364 (GRCm39) T131A probably null Het
Phf20l1 T C 15: 66,466,829 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,759,878 (GRCm39) D363G probably benign Het
Prpf6 C T 2: 181,273,864 (GRCm39) T336I probably benign Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Sae1 T G 7: 16,093,043 (GRCm39) K221N probably damaging Het
Slc45a1 T C 4: 150,722,987 (GRCm39) K299R probably benign Het
Slco1a8 T C 6: 141,917,969 (GRCm39) R636G probably benign Het
Smad2 C A 18: 76,432,851 (GRCm39) probably null Het
Tmem117 T C 15: 94,777,306 (GRCm39) F152S probably damaging Het
Tmem232 C T 17: 65,757,365 (GRCm39) C276Y probably damaging Het
Tor1b A T 2: 30,843,865 (GRCm39) K47* probably null Het
Ttn A G 2: 76,740,147 (GRCm39) V3464A probably benign Het
Ube3b A G 5: 114,550,945 (GRCm39) T870A possibly damaging Het
Zscan25 T G 5: 145,227,296 (GRCm39) L320R probably benign Het
Other mutations in Lmna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Lmna APN 3 88,391,991 (GRCm39) missense probably benign 0.05
IGL00933:Lmna APN 3 88,389,856 (GRCm39) missense possibly damaging 0.73
IGL01347:Lmna APN 3 88,392,270 (GRCm39) missense probably benign 0.42
P0029:Lmna UTSW 3 88,391,224 (GRCm39) missense possibly damaging 0.88
R0606:Lmna UTSW 3 88,389,885 (GRCm39) missense probably damaging 1.00
R1547:Lmna UTSW 3 88,389,658 (GRCm39) missense probably benign 0.00
R4751:Lmna UTSW 3 88,393,840 (GRCm39) missense possibly damaging 0.87
R5157:Lmna UTSW 3 88,391,414 (GRCm39) missense probably damaging 1.00
R5857:Lmna UTSW 3 88,389,838 (GRCm39) unclassified probably benign
R6112:Lmna UTSW 3 88,393,928 (GRCm39) nonsense probably null
R6263:Lmna UTSW 3 88,410,265 (GRCm39) missense probably damaging 1.00
R6328:Lmna UTSW 3 88,393,813 (GRCm39) missense probably damaging 1.00
R6604:Lmna UTSW 3 88,395,589 (GRCm39) missense probably damaging 0.97
R7100:Lmna UTSW 3 88,392,297 (GRCm39) missense probably damaging 0.99
R8080:Lmna UTSW 3 88,393,868 (GRCm39) missense probably damaging 0.99
R8841:Lmna UTSW 3 88,391,920 (GRCm39) critical splice donor site probably null
R9347:Lmna UTSW 3 88,393,548 (GRCm39) missense probably damaging 0.98
R9665:Lmna UTSW 3 88,389,793 (GRCm39) missense probably benign 0.18
R9666:Lmna UTSW 3 88,389,857 (GRCm39) frame shift probably null
R9667:Lmna UTSW 3 88,389,857 (GRCm39) frame shift probably null
R9694:Lmna UTSW 3 88,389,857 (GRCm39) frame shift probably null
RF013:Lmna UTSW 3 88,391,361 (GRCm39) missense probably benign 0.00
Z1177:Lmna UTSW 3 88,393,543 (GRCm39) missense probably benign 0.17
Posted On 2015-12-18