Incidental Mutation 'P0029:Lmna'
ID 15809
Institutional Source Beutler Lab
Gene Symbol Lmna
Ensembl Gene ENSMUSG00000028063
Gene Name lamin A
Synonyms lamin A/C, Dhe
MMRRC Submission 038282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0029 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 88388455-88413842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88391224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 506 (H506Q)
Ref Sequence ENSEMBL: ENSMUSP00000113093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029699] [ENSMUST00000036252] [ENSMUST00000120377]
AlphaFold P48678
Predicted Effect possibly damaging
Transcript: ENSMUST00000029699
AA Change: H506Q

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029699
Gene: ENSMUSG00000028063
AA Change: H506Q

DomainStartEndE-ValueType
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: ENSMUST00000036252
AA Change: H394Q

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000040265
Gene: ENSMUSG00000028063
AA Change: H394Q

DomainStartEndE-ValueType
Pfam:Filament 2 274 5.6e-66 PFAM
low complexity region 283 302 N/A INTRINSIC
Pfam:LTD 317 436 1.2e-22 PFAM
low complexity region 439 450 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120377
AA Change: H506Q

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113093
Gene: ENSMUSG00000028063
AA Change: H506Q

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000147537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150496
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 79.5%
  • 3x: 61.6%
  • 10x: 20.9%
  • 20x: 5.8%
Validation Efficiency 87% (20/23)
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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1c1 T C 15: 38,687,146 (GRCm39) probably benign Het
Dnah8 T A 17: 30,984,694 (GRCm39) Y3131N probably damaging Het
Itpr2 A C 6: 146,280,987 (GRCm39) M223R probably damaging Het
Txnip A G 3: 96,467,679 (GRCm39) probably null Het
Zfp418 A G 7: 7,177,636 (GRCm39) Y50C probably damaging 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
IGL02881:Lmna APN 3 88,410,233 (GRCm39) missense possibly damaging 0.56
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 2013-01-04