Incidental Mutation 'R9666:Lmna'
ID 735693
Institutional Source Beutler Lab
Gene Symbol Lmna
Ensembl Gene ENSMUSG00000028063
Gene Name lamin A
Synonyms Dhe, lamin A/C
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9666 (G1)
Quality Score 217.468
Status Not validated
Chromosome 3
Chromosomal Location 88480147-88509956 bp(-) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) CAGCACGGTGCGTGAGC to CAGC at 88482550 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029699] [ENSMUST00000036252] [ENSMUST00000120377]
AlphaFold P48678
PDB Structure Solution structure of immunoglobulin like domain of mouse nuclear lamin [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000029699
SMART Domains Protein: ENSMUSP00000029699
Gene: ENSMUSG00000028063

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
SMART Domains Protein: ENSMUSP00000040265
Gene: ENSMUSG00000028063

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 probably benign
Transcript: ENSMUST00000120377
SMART Domains Protein: ENSMUSP00000113093
Gene: ENSMUSG00000028063

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C A 12: 118,874,687 V1047L probably damaging Het
AF529169 A T 9: 89,602,019 S442T probably benign Het
Akap6 G A 12: 53,141,535 A1911T probably benign Het
Ank2 T A 3: 126,933,189 K819* probably null Het
Apc2 A G 10: 80,311,349 R746G possibly damaging Het
Baz1a A G 12: 54,941,560 I268T probably benign Het
Bysl A G 17: 47,603,940 I206T probably benign Het
Ccdc70 A C 8: 21,973,341 E49A possibly damaging Het
Chd1 A T 17: 15,735,714 H525L probably damaging Het
Col4a4 T C 1: 82,518,949 E442G unknown Het
Cpd G A 11: 76,802,307 P718S probably benign Het
Dip2b T A 15: 100,209,580 I1391N probably damaging Het
Dpp9 T C 17: 56,194,946 T541A probably damaging Het
Dst C T 1: 34,179,866 Q1796* probably null Het
Gm10267 T C 18: 44,158,330 I25V probably benign Het
Gm13083 A G 4: 143,615,129 T43A probably benign Het
Gm32742 C T 9: 51,150,141 R744Q probably benign Het
Gm37240 T C 3: 84,515,645 Y139C probably damaging Het
Gm39115 A G 7: 142,135,518 C173R unknown Het
Grm6 T G 11: 50,860,050 V680G probably damaging Het
Grxcr2 C T 18: 41,998,891 D38N probably damaging Het
Iah1 G A 12: 21,316,586 R52H probably damaging Het
Ift43 A G 12: 86,085,146 Y36C possibly damaging Het
Igf2r T C 17: 12,726,701 I334V probably benign Het
Igfn1 T A 1: 135,969,954 Q958L possibly damaging Het
Il4i1 G A 7: 44,839,839 A343T possibly damaging Het
Ints1 T C 5: 139,762,462 I1128V probably benign Het
Irx1 C A 13: 71,963,469 G7V probably damaging Het
Krr1 A G 10: 111,982,991 R312G possibly damaging Het
Lpin2 A T 17: 71,222,070 N108Y probably damaging Het
Man2a1 A T 17: 64,636,562 E204V possibly damaging Het
Megf8 A G 7: 25,330,741 T434A possibly damaging Het
Muc16 T C 9: 18,655,989 T1745A unknown Het
Mycbp2 G T 14: 103,134,038 P4135T probably damaging Het
Nuggc T C 14: 65,619,596 V398A possibly damaging Het
Olfr1131 C T 2: 87,628,808 A115V possibly damaging Het
Olfr2 A T 7: 107,000,892 S323T probably benign Het
Olfr308 A G 7: 86,321,236 S239P probably damaging Het
Olfr381 A G 11: 73,486,059 I255T probably damaging Het
Olfr389 A T 11: 73,777,150 M59K probably damaging Het
Olfr49 G T 14: 54,282,885 N3K probably damaging Het
Parg A G 14: 32,242,337 N653S probably damaging Het
Plek A G 11: 16,995,346 F18L probably benign Het
Pnoc A G 14: 65,401,798 I206T possibly damaging Het
Ppp4r3a T C 12: 101,082,870 M1V probably null Het
Psg22 T C 7: 18,724,323 V313A probably benign Het
Ptk2b G T 14: 66,172,097 P497T probably damaging Het
Rer1 A G 4: 155,075,587 probably null Het
Rnf130 A G 11: 50,095,791 T321A probably benign Het
Rnf207 A T 4: 152,313,260 F346I probably damaging Het
Rraga T A 4: 86,576,337 I140N possibly damaging Het
Rusc2 A T 4: 43,416,262 M523L probably benign Het
Sh3bp1 T A 15: 78,908,422 V495D probably benign Het
Slc44a5 T C 3: 154,240,289 L153P probably benign Het
Spag16 T C 1: 70,724,913 S631P probably damaging Het
Syne1 A C 10: 5,034,937 L747R probably damaging Het
Tac1 A G 6: 7,555,675 E21G probably benign Het
Tekt2 C T 4: 126,323,651 R207H probably damaging Het
Tln1 T C 4: 43,542,957 D1344G probably damaging Het
Tnc C T 4: 64,007,808 E912K probably damaging Het
Trav16d-dv11 A G 14: 53,047,580 T38A probably benign Het
Trbv15 T A 6: 41,141,430 L40Q probably damaging Het
Trpa1 T C 1: 14,903,231 I288V possibly damaging Het
Ttn A T 2: 76,774,597 I18331N probably damaging Het
Tubgcp2 A T 7: 140,007,923 I263N probably damaging Het
Ugt8a T C 3: 125,915,308 H51R probably benign Het
Vmn2r2 T C 3: 64,116,449 T904A probably benign Het
Zfp575 G A 7: 24,585,898 T106M probably damaging Het
Zfp617 A G 8: 71,932,695 T290A probably benign Het
Zfp809 T C 9: 22,238,567 V120A probably benign Het
Other mutations in Lmna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Lmna APN 3 88484684 missense probably benign 0.05
IGL00933:Lmna APN 3 88482549 missense possibly damaging 0.73
IGL01347:Lmna APN 3 88484963 missense probably benign 0.42
IGL02881:Lmna APN 3 88502926 missense possibly damaging 0.56
P0029:Lmna UTSW 3 88483917 missense possibly damaging 0.88
R0606:Lmna UTSW 3 88482578 missense probably damaging 1.00
R1547:Lmna UTSW 3 88482351 missense probably benign 0.00
R4751:Lmna UTSW 3 88486533 missense possibly damaging 0.87
R5157:Lmna UTSW 3 88484107 missense probably damaging 1.00
R5857:Lmna UTSW 3 88482531 unclassified probably benign
R6112:Lmna UTSW 3 88486621 nonsense probably null
R6263:Lmna UTSW 3 88502958 missense probably damaging 1.00
R6328:Lmna UTSW 3 88486506 missense probably damaging 1.00
R6604:Lmna UTSW 3 88488282 missense probably damaging 0.97
R7100:Lmna UTSW 3 88484990 missense probably damaging 0.99
R8080:Lmna UTSW 3 88486561 missense probably damaging 0.99
R8841:Lmna UTSW 3 88484613 critical splice donor site probably null
R9347:Lmna UTSW 3 88486241 missense probably damaging 0.98
R9665:Lmna UTSW 3 88482486 missense probably benign 0.18
R9667:Lmna UTSW 3 88482550 frame shift probably null
R9694:Lmna UTSW 3 88482550 frame shift probably null
RF013:Lmna UTSW 3 88484054 missense probably benign 0.00
Z1177:Lmna UTSW 3 88486236 missense probably benign 0.17
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-11-14