Incidental Mutation 'R6346:Lmnb1'
ID 513978
Institutional Source Beutler Lab
Gene Symbol Lmnb1
Ensembl Gene ENSMUSG00000024590
Gene Name lamin B1
Synonyms
MMRRC Submission 044500-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6346 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 56840885-56886496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56876310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 473 (I473V)
Ref Sequence ENSEMBL: ENSMUSP00000025486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025486]
AlphaFold P14733
Predicted Effect probably benign
Transcript: ENSMUST00000025486
AA Change: I473V

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025486
Gene: ENSMUSG00000024590
AA Change: I473V

DomainStartEndE-ValueType
Filament 32 388 2.59e-47 SMART
low complexity region 392 414 N/A INTRINSIC
Pfam:LTD 436 546 2.3e-18 PFAM
low complexity region 551 570 N/A INTRINSIC
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 C T 7: 75,335,002 (GRCm39) S455L probably damaging Het
Apbb1ip T G 2: 22,757,005 (GRCm39) probably null Het
Arhgap18 A T 10: 26,722,061 (GRCm39) I11F probably damaging Het
Arl14epl A T 18: 47,059,409 (GRCm39) N8I possibly damaging Het
Atp4a T A 7: 30,414,781 (GRCm39) I190N possibly damaging Het
Bfar T C 16: 13,519,997 (GRCm39) F285S probably damaging Het
Carf C T 1: 60,180,699 (GRCm39) Q409* probably null Het
Cd244a T C 1: 171,404,889 (GRCm39) V247A probably damaging Het
Ceacam12 T A 7: 17,803,326 (GRCm39) I244K probably damaging Het
Cmya5 T C 13: 93,228,698 (GRCm39) E2130G probably damaging Het
Cyp2b23 T G 7: 26,381,150 (GRCm39) H69P probably damaging Het
Dixdc1 T C 9: 50,595,253 (GRCm39) Q183R probably damaging Het
Dock10 T A 1: 80,553,573 (GRCm39) probably null Het
Fam20c T C 5: 138,752,450 (GRCm39) F279S probably damaging Het
Hcn4 C T 9: 58,766,327 (GRCm39) T665I unknown Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Kdm7a A T 6: 39,128,145 (GRCm39) probably null Het
Ksr1 A C 11: 78,910,490 (GRCm39) L814R possibly damaging Het
Mllt3 T C 4: 87,759,445 (GRCm39) K201R probably damaging Het
Myo1b C T 1: 51,823,666 (GRCm39) C413Y probably damaging Het
Myom3 A T 4: 135,533,362 (GRCm39) N1185I probably benign Het
Nrde2 A G 12: 100,098,565 (GRCm39) S701P probably benign Het
Ntn4 A T 10: 93,480,723 (GRCm39) D112V probably damaging Het
Nup43 T A 10: 7,550,826 (GRCm39) V232D probably damaging Het
Pcdha6 G A 18: 37,101,113 (GRCm39) C102Y probably damaging Het
Pcdhgb8 T C 18: 37,895,131 (GRCm39) L67P probably damaging Het
Pkd1l3 A G 8: 110,358,016 (GRCm39) H836R probably damaging Het
Plekha1 T A 7: 130,479,512 (GRCm39) I10N probably benign Het
Prss29 A G 17: 25,540,084 (GRCm39) T161A possibly damaging Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Secisbp2 C T 13: 51,833,923 (GRCm39) H688Y probably damaging Het
Senp5 A G 16: 31,802,665 (GRCm39) Y508H probably damaging Het
Shc3 T A 13: 51,605,651 (GRCm39) T210S possibly damaging Het
Slc27a2 G A 2: 126,429,800 (GRCm39) V467M probably damaging Het
Slc27a5 T A 7: 12,724,899 (GRCm39) E487V possibly damaging Het
Snx1 T C 9: 66,001,930 (GRCm39) T298A possibly damaging Het
Trir A G 8: 85,753,643 (GRCm39) D39G possibly damaging Het
Ubd C T 17: 37,506,242 (GRCm39) Q43* probably null Het
Ube2o T C 11: 116,432,194 (GRCm39) E924G probably damaging Het
Vps13a T C 19: 16,659,578 (GRCm39) I1650V possibly damaging Het
Xirp2 C A 2: 67,346,425 (GRCm39) R2889S probably benign Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G probably benign Het
Other mutations in Lmnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Lmnb1 APN 18 56,873,868 (GRCm39) missense probably benign 0.37
IGL02139:Lmnb1 APN 18 56,882,871 (GRCm39) missense probably benign 0.00
Katmai UTSW 18 56,876,348 (GRCm39) nonsense probably null
R0446:Lmnb1 UTSW 18 56,876,331 (GRCm39) missense probably benign 0.02
R0696:Lmnb1 UTSW 18 56,873,793 (GRCm39) missense probably damaging 0.99
R1308:Lmnb1 UTSW 18 56,861,547 (GRCm39) missense probably benign 0.06
R1309:Lmnb1 UTSW 18 56,872,976 (GRCm39) frame shift probably null
R1544:Lmnb1 UTSW 18 56,882,823 (GRCm39) missense probably benign 0.08
R2680:Lmnb1 UTSW 18 56,864,177 (GRCm39) missense probably damaging 1.00
R3833:Lmnb1 UTSW 18 56,861,598 (GRCm39) missense probably benign 0.01
R3980:Lmnb1 UTSW 18 56,864,091 (GRCm39) missense probably damaging 1.00
R5820:Lmnb1 UTSW 18 56,873,858 (GRCm39) missense possibly damaging 0.70
R6025:Lmnb1 UTSW 18 56,862,456 (GRCm39) nonsense probably null
R6028:Lmnb1 UTSW 18 56,876,348 (GRCm39) nonsense probably null
R6736:Lmnb1 UTSW 18 56,861,541 (GRCm39) missense probably damaging 1.00
R8013:Lmnb1 UTSW 18 56,841,431 (GRCm39) missense probably damaging 1.00
R8944:Lmnb1 UTSW 18 56,876,331 (GRCm39) missense probably benign 0.02
R9453:Lmnb1 UTSW 18 56,873,114 (GRCm39) critical splice donor site probably null
RF004:Lmnb1 UTSW 18 56,864,046 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TGACCGTGATCCTTGCTTG -3'
(R):5'- AATGCTTCTCTTTCGGTCAAAC -3'

Sequencing Primer
(F):5'- CAGTTTTGTCCCCTTTAAAATTCAG -3'
(R):5'- CCTCTTCTGGAGTGTCTGAAAACAG -3'
Posted On 2018-04-27