Incidental Mutation 'IGL03337:Lbr'
ID 417074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lbr
Ensembl Gene ENSMUSG00000004880
Gene Name lamin B receptor
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # IGL03337
Quality Score
Status
Chromosome 1
Chromosomal Location 181642880-181669966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 181659788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 136 (G136R)
Ref Sequence ENSEMBL: ENSMUSP00000005003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005003] [ENSMUST00000191878] [ENSMUST00000193030] [ENSMUST00000195299]
AlphaFold Q3U9G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005003
AA Change: G136R

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: G136R

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 probably benign
Transcript: ENSMUST00000191878
SMART Domains Protein: ENSMUSP00000142133
Gene: ENSMUSG00000004880

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193030
SMART Domains Protein: ENSMUSP00000141335
Gene: ENSMUSG00000004880

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
low complexity region 63 101 N/A INTRINSIC
low complexity region 111 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194302
Predicted Effect probably benign
Transcript: ENSMUST00000194415
Predicted Effect probably benign
Transcript: ENSMUST00000195299
SMART Domains Protein: ENSMUSP00000142167
Gene: ENSMUSG00000004880

DomainStartEndE-ValueType
TUDOR 4 62 4.1e-11 SMART
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,995,930 (GRCm39) I1356V probably benign Het
Akr1b8 T C 6: 34,331,209 (GRCm39) I15T probably benign Het
Arrdc3 G A 13: 81,038,766 (GRCm39) V23I probably benign Het
Bmp6 G A 13: 38,682,919 (GRCm39) V470I probably damaging Het
Cltc A T 11: 86,594,509 (GRCm39) I1476N possibly damaging Het
Dclk2 A C 3: 86,813,366 (GRCm39) I193M probably damaging Het
Dnah5 A G 15: 28,290,287 (GRCm39) M1226V probably benign Het
Firrm A G 1: 163,818,328 (GRCm39) S38P probably damaging Het
Gm6455 A G 5: 10,917,251 (GRCm39) noncoding transcript Het
Igkv4-62 A T 6: 69,376,946 (GRCm39) W68R probably damaging Het
Ldhb C T 6: 142,439,882 (GRCm39) M219I probably benign Het
Lysmd2 A G 9: 75,542,945 (GRCm39) D184G probably damaging Het
Nrxn3 T A 12: 89,221,790 (GRCm39) M150K probably damaging Het
Pdss2 T C 10: 43,221,589 (GRCm39) V167A probably damaging Het
Scn7a A T 2: 66,506,304 (GRCm39) D1528E probably benign Het
Thsd7a C T 6: 12,405,173 (GRCm39) C757Y probably damaging Het
Tmem213 T C 6: 38,086,478 (GRCm39) probably null Het
Trip11 A G 12: 101,851,278 (GRCm39) S929P probably damaging Het
Utp20 T A 10: 88,590,428 (GRCm39) M2349L probably benign Het
Vmn2r58 T A 7: 41,513,810 (GRCm39) I278F possibly damaging Het
Vmn2r61 A G 7: 41,916,509 (GRCm39) N374S possibly damaging Het
Vps8 A G 16: 21,381,918 (GRCm39) T1089A probably benign Het
Other mutations in Lbr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Lbr APN 1 181,653,208 (GRCm39) nonsense probably null
IGL01680:Lbr APN 1 181,663,759 (GRCm39) missense probably damaging 1.00
IGL02738:Lbr APN 1 181,659,778 (GRCm39) missense probably benign 0.16
IGL03048:Lbr APN 1 181,666,109 (GRCm39) utr 5 prime probably benign
IGL03227:Lbr APN 1 181,663,620 (GRCm39) splice site probably null
Aconcagua UTSW 1 181,656,467 (GRCm39) missense probably benign 0.02
kosciuszko UTSW 1 181,653,186 (GRCm39) critical splice donor site probably null
Mont_blanc UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
seven UTSW 1 181,659,778 (GRCm39) missense probably benign 0.16
Strzelecki UTSW 1 181,644,571 (GRCm39) missense possibly damaging 0.85
thredbo UTSW 1 181,645,086 (GRCm39) missense probably damaging 1.00
1mM(1):Lbr UTSW 1 181,659,244 (GRCm39) missense possibly damaging 0.65
H8562:Lbr UTSW 1 181,648,233 (GRCm39) splice site probably benign
IGL02991:Lbr UTSW 1 181,649,117 (GRCm39) missense probably damaging 1.00
R0597:Lbr UTSW 1 181,659,778 (GRCm39) missense probably benign 0.16
R1118:Lbr UTSW 1 181,648,233 (GRCm39) splice site probably benign
R1727:Lbr UTSW 1 181,647,481 (GRCm39) missense probably benign 0.01
R2566:Lbr UTSW 1 181,663,692 (GRCm39) missense probably damaging 0.96
R3699:Lbr UTSW 1 181,646,485 (GRCm39) missense probably damaging 1.00
R3854:Lbr UTSW 1 181,659,280 (GRCm39) missense probably benign 0.05
R4290:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4292:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4293:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4294:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4295:Lbr UTSW 1 181,648,267 (GRCm39) missense probably damaging 1.00
R4771:Lbr UTSW 1 181,665,986 (GRCm39) missense probably damaging 1.00
R4890:Lbr UTSW 1 181,645,133 (GRCm39) missense probably benign 0.10
R5011:Lbr UTSW 1 181,647,453 (GRCm39) nonsense probably null
R5402:Lbr UTSW 1 181,647,526 (GRCm39) missense probably benign 0.00
R5486:Lbr UTSW 1 181,646,403 (GRCm39) critical splice donor site probably null
R5617:Lbr UTSW 1 181,656,467 (GRCm39) missense probably benign 0.02
R5630:Lbr UTSW 1 181,644,529 (GRCm39) splice site probably null
R6360:Lbr UTSW 1 181,659,720 (GRCm39) missense probably benign 0.00
R6575:Lbr UTSW 1 181,663,763 (GRCm39) missense probably damaging 1.00
R7069:Lbr UTSW 1 181,656,354 (GRCm39) missense probably damaging 1.00
R7342:Lbr UTSW 1 181,653,186 (GRCm39) critical splice donor site probably null
R7590:Lbr UTSW 1 181,649,076 (GRCm39) missense probably damaging 1.00
R7686:Lbr UTSW 1 181,645,086 (GRCm39) missense probably damaging 1.00
R8477:Lbr UTSW 1 181,644,539 (GRCm39) missense possibly damaging 0.60
R8742:Lbr UTSW 1 181,644,571 (GRCm39) missense possibly damaging 0.85
R8838:Lbr UTSW 1 181,648,294 (GRCm39) missense possibly damaging 0.74
R8998:Lbr UTSW 1 181,646,512 (GRCm39) missense probably damaging 1.00
R8999:Lbr UTSW 1 181,646,512 (GRCm39) missense probably damaging 1.00
R9040:Lbr UTSW 1 181,644,910 (GRCm39) missense probably damaging 1.00
R9059:Lbr UTSW 1 181,645,119 (GRCm39) missense
R9111:Lbr UTSW 1 181,645,068 (GRCm39) missense possibly damaging 0.94
R9195:Lbr UTSW 1 181,663,837 (GRCm39) missense probably benign 0.00
R9709:Lbr UTSW 1 181,666,034 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02