Incidental Mutation 'IGL01585:Lbr'
ID93338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lbr
Ensembl Gene ENSMUSG00000004880
Gene Namelamin B receptor
Synonyms
Accession Numbers

Genbank: NM_133815.2; Ensembl: ENSMUST00000005003

Is this an essential gene? Probably essential (E-score: 0.762) question?
Stock #IGL01585
Quality Score
Status
Chromosome1
Chromosomal Location181815335-181843046 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 181825643 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 70 (R70*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005003]
Predicted Effect probably null
Transcript: ENSMUST00000005003
AA Change: R302*
SMART Domains Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: R302*

DomainStartEndE-ValueType
TUDOR 4 62 6.7e-9 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Pfam:ERG4_ERG24 194 626 4.6e-161 PFAM
Pfam:DUF1295 452 617 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194302
Predicted Effect probably null
Transcript: ENSMUST00000194415
AA Change: R70*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Gene trapped(17) Spontaneous(6)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T G 7: 131,244,758 V637G probably damaging Het
Abca12 T C 1: 71,319,886 D587G probably benign Het
Adcy1 T A 11: 7,167,143 N1003K probably damaging Het
Alpk1 T C 3: 127,679,813 D847G probably benign Het
Atp5a1 T C 18: 77,781,058 V417A possibly damaging Het
Avp A C 2: 130,580,709 S159A probably benign Het
Brca2 C A 5: 150,539,516 A915D possibly damaging Het
Cdc42bpg G A 19: 6,320,432 R1185H possibly damaging Het
Clrn2 A G 5: 45,460,158 I124V probably benign Het
Cntn4 A T 6: 106,618,328 K469* probably null Het
Cxcl1 T A 5: 90,891,724 N70K probably damaging Het
Dbf4 A G 5: 8,408,492 probably null Het
Fbn1 A T 2: 125,360,110 V1281E probably damaging Het
Fgfr3 A T 5: 33,733,961 Q523L probably damaging Het
Golga5 A G 12: 102,479,695 K403R probably benign Het
Gpr22 A G 12: 31,709,337 I262T probably benign Het
Gstm3 G T 3: 107,966,158 Q166K probably benign Het
Ilf2 T A 3: 90,484,542 N183K probably damaging Het
Ip6k2 T A 9: 108,796,313 L40Q probably damaging Het
Itga8 A T 2: 12,160,312 probably benign Het
Lilra6 T C 7: 3,914,499 T166A probably benign Het
Map3k4 T C 17: 12,248,959 K1063E probably damaging Het
Msi1 T C 5: 115,430,890 probably null Het
Pam A G 1: 97,864,472 V408A probably damaging Het
Plxna1 A G 6: 89,329,556 probably null Het
Ppp1r36 A T 12: 76,439,117 probably null Het
Prrt4 A G 6: 29,177,690 S27P probably benign Het
Psmg1 G A 16: 95,988,021 T112I possibly damaging Het
Rfx7 T G 9: 72,617,061 I511S probably benign Het
Ros1 G A 10: 52,155,102 T481M probably damaging Het
Scfd1 A G 12: 51,415,553 D397G probably damaging Het
Sel1l3 A G 5: 53,154,236 Y636H probably damaging Het
Sgms1 T G 19: 32,142,845 R220S probably damaging Het
Slc37a3 A T 6: 39,337,262 I472N probably damaging Het
Syne2 A G 12: 75,949,060 probably null Het
Tert T C 13: 73,634,344 V579A probably benign Het
Ush2a A T 1: 188,430,727 H1002L probably damaging Het
Other mutations in Lbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Lbr APN 1 181836194 missense probably damaging 1.00
IGL02738:Lbr APN 1 181832213 missense probably benign 0.16
IGL03048:Lbr APN 1 181838544 utr 5 prime probably benign
IGL03227:Lbr APN 1 181836055 unclassified probably null
IGL03337:Lbr APN 1 181832223 missense possibly damaging 0.92
Aconcagua UTSW 1 181828902 missense probably benign 0.02
kosciuszko UTSW 1 181825621 critical splice donor site probably null
Mont_blanc UTSW 1 181820702 missense probably damaging 1.00
seven UTSW 1 181832213 missense probably benign 0.16
1mM(1):Lbr UTSW 1 181831679 missense possibly damaging 0.65
H8562:Lbr UTSW 1 181820668 splice site probably benign
IGL02991:Lbr UTSW 1 181821552 missense probably damaging 1.00
R0597:Lbr UTSW 1 181832213 missense probably benign 0.16
R1118:Lbr UTSW 1 181820668 splice site probably benign
R1727:Lbr UTSW 1 181819916 missense probably benign 0.01
R2566:Lbr UTSW 1 181836127 missense probably damaging 0.96
R3699:Lbr UTSW 1 181818920 missense probably damaging 1.00
R3854:Lbr UTSW 1 181831715 missense probably benign 0.05
R4290:Lbr UTSW 1 181820702 missense probably damaging 1.00
R4292:Lbr UTSW 1 181820702 missense probably damaging 1.00
R4293:Lbr UTSW 1 181820702 missense probably damaging 1.00
R4294:Lbr UTSW 1 181820702 missense probably damaging 1.00
R4295:Lbr UTSW 1 181820702 missense probably damaging 1.00
R4771:Lbr UTSW 1 181838421 missense probably damaging 1.00
R4890:Lbr UTSW 1 181817568 missense probably benign 0.10
R5011:Lbr UTSW 1 181819888 nonsense probably null
R5402:Lbr UTSW 1 181819961 missense probably benign 0.00
R5486:Lbr UTSW 1 181818838 critical splice donor site probably null
R5617:Lbr UTSW 1 181828902 missense probably benign 0.02
R5630:Lbr UTSW 1 181816964 unclassified probably null
R6360:Lbr UTSW 1 181832155 missense probably benign 0.00
R6575:Lbr UTSW 1 181836198 missense probably damaging 1.00
R7069:Lbr UTSW 1 181828789 missense probably damaging 1.00
R7342:Lbr UTSW 1 181825621 critical splice donor site probably null
R7590:Lbr UTSW 1 181821511 missense probably damaging 1.00
R7686:Lbr UTSW 1 181817521 missense probably damaging 1.00
Posted On2013-12-09