Incidental Mutation 'R4241:Lmbrd1'
ID 320196
Institutional Source Beutler Lab
Gene Symbol Lmbrd1
Ensembl Gene ENSMUSG00000073725
Gene Name LMBR1 domain containing 1
Synonyms 0910001K20Rik
MMRRC Submission 041058-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4241 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 24717711-24805382 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 24732049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 89 (Q89*)
Ref Sequence ENSEMBL: ENSMUSP00000140783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095062] [ENSMUST00000186096] [ENSMUST00000186190] [ENSMUST00000191471]
AlphaFold Q8K0B2
Predicted Effect probably null
Transcript: ENSMUST00000095062
AA Change: Q19*
SMART Domains Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: Q19*

DomainStartEndE-ValueType
Pfam:LMBR1 17 292 3e-24 PFAM
transmembrane domain 303 325 N/A INTRINSIC
low complexity region 344 356 N/A INTRINSIC
transmembrane domain 365 387 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
transmembrane domain 486 508 N/A INTRINSIC
low complexity region 522 531 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000186096
AA Change: Q89*
SMART Domains Protein: ENSMUSP00000140911
Gene: ENSMUSG00000073725
AA Change: Q89*

DomainStartEndE-ValueType
Pfam:LMBR1 12 155 2.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186190
SMART Domains Protein: ENSMUSP00000139893
Gene: ENSMUSG00000073725

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
low complexity region 113 127 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000191471
AA Change: Q89*
SMART Domains Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: Q89*

DomainStartEndE-ValueType
Pfam:LMBR1 12 289 2.7e-19 PFAM
transmembrane domain 303 325 N/A INTRINSIC
low complexity region 344 356 N/A INTRINSIC
transmembrane domain 365 387 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
transmembrane domain 486 508 N/A INTRINSIC
low complexity region 522 531 N/A INTRINSIC
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice heterozygous for a targeted allele exhibit increased cardiac cell glucose uptake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,548,497 (GRCm39) probably benign Het
Ap5b1 C T 19: 5,618,825 (GRCm39) L82F possibly damaging Het
Arfgef3 A G 10: 18,500,912 (GRCm39) S1113P probably damaging Het
Atoh1 A C 6: 64,706,758 (GRCm39) N151T probably damaging Het
Bcas3 T A 11: 85,361,652 (GRCm39) S25R probably damaging Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Btbd6 C T 12: 112,940,416 (GRCm39) A13V probably benign Het
Ccdc83 A C 7: 89,896,346 (GRCm39) N74K probably damaging Het
Cdh9 A G 15: 16,849,165 (GRCm39) probably null Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col16a1 G T 4: 129,992,843 (GRCm39) Q1567H probably damaging Het
Coq6 A T 12: 84,420,563 (GRCm39) probably benign Het
Cpd T C 11: 76,737,611 (GRCm39) D61G probably benign Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Cyp2d41-ps T A 15: 82,663,787 (GRCm39) noncoding transcript Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Eif3e G A 15: 43,126,086 (GRCm39) T287I probably damaging Het
Fcgbpl1 A G 7: 27,853,760 (GRCm39) S1575G probably damaging Het
Gm7135 A G 1: 97,281,678 (GRCm39) noncoding transcript Het
Gpr176 A T 2: 118,110,091 (GRCm39) S389R probably benign Het
Hax1 A G 3: 89,902,997 (GRCm39) S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kynu A T 2: 43,571,422 (GRCm39) H446L probably benign Het
Lingo1 A G 9: 56,527,386 (GRCm39) F401S probably damaging Het
Mov10 T A 3: 104,704,592 (GRCm39) Q773L probably benign Het
Or52e19 G T 7: 102,959,868 (GRCm39) *313Y probably null Het
Or7c70 T A 10: 78,683,739 (GRCm39) R3S probably benign Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Peli3 T C 19: 4,982,426 (GRCm39) H413R probably damaging Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Slc10a5 A G 3: 10,400,520 (GRCm39) S47P probably damaging Het
Sprr3 A G 3: 92,364,214 (GRCm39) V210A possibly damaging Het
Tcerg1l G T 7: 137,999,361 (GRCm39) Q8K unknown Het
Ubfd1 T C 7: 121,670,977 (GRCm39) V265A possibly damaging Het
Ubr1 T C 2: 120,764,867 (GRCm39) D529G possibly damaging Het
Vmn1r180 A T 7: 23,652,298 (GRCm39) I154F probably damaging Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Whrn C T 4: 63,351,210 (GRCm39) probably benign Het
Zfr T G 15: 12,149,745 (GRCm39) D388E probably damaging Het
Zic5 T C 14: 122,702,075 (GRCm39) I219V probably benign Het
Zmat5 A G 11: 4,678,614 (GRCm39) N53D probably benign Het
Other mutations in Lmbrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Lmbrd1 APN 1 24,745,055 (GRCm39) splice site probably benign
IGL01897:Lmbrd1 APN 1 24,782,977 (GRCm39) missense possibly damaging 0.47
IGL01950:Lmbrd1 APN 1 24,750,683 (GRCm39) critical splice donor site probably null
IGL02342:Lmbrd1 APN 1 24,743,959 (GRCm39) missense probably damaging 1.00
IGL02888:Lmbrd1 APN 1 24,754,053 (GRCm39) missense possibly damaging 0.94
P0033:Lmbrd1 UTSW 1 24,724,646 (GRCm39) missense possibly damaging 0.95
R0479:Lmbrd1 UTSW 1 24,785,878 (GRCm39) splice site probably benign
R0549:Lmbrd1 UTSW 1 24,784,001 (GRCm39) missense probably benign 0.17
R1015:Lmbrd1 UTSW 1 24,770,959 (GRCm39) nonsense probably null
R1423:Lmbrd1 UTSW 1 24,785,959 (GRCm39) missense probably damaging 0.99
R1636:Lmbrd1 UTSW 1 24,786,011 (GRCm39) nonsense probably null
R1650:Lmbrd1 UTSW 1 24,750,639 (GRCm39) missense probably damaging 0.97
R1815:Lmbrd1 UTSW 1 24,724,642 (GRCm39) missense possibly damaging 0.55
R2354:Lmbrd1 UTSW 1 24,724,622 (GRCm39) missense probably damaging 1.00
R3690:Lmbrd1 UTSW 1 24,801,374 (GRCm39) makesense probably null
R3713:Lmbrd1 UTSW 1 24,732,076 (GRCm39) missense probably damaging 1.00
R4627:Lmbrd1 UTSW 1 24,745,080 (GRCm39) missense probably damaging 1.00
R4782:Lmbrd1 UTSW 1 24,784,056 (GRCm39) splice site probably null
R4799:Lmbrd1 UTSW 1 24,784,056 (GRCm39) splice site probably null
R5341:Lmbrd1 UTSW 1 24,785,892 (GRCm39) nonsense probably null
R5430:Lmbrd1 UTSW 1 24,732,061 (GRCm39) missense possibly damaging 0.95
R5483:Lmbrd1 UTSW 1 24,783,989 (GRCm39) missense probably damaging 1.00
R5633:Lmbrd1 UTSW 1 24,787,943 (GRCm39) missense possibly damaging 0.90
R6188:Lmbrd1 UTSW 1 24,750,626 (GRCm39) missense probably benign
R6383:Lmbrd1 UTSW 1 24,745,115 (GRCm39) missense probably damaging 0.99
R6617:Lmbrd1 UTSW 1 24,724,509 (GRCm39) missense probably damaging 1.00
R7060:Lmbrd1 UTSW 1 24,732,047 (GRCm39) missense probably benign 0.00
R7365:Lmbrd1 UTSW 1 24,783,948 (GRCm39) missense possibly damaging 0.62
R7621:Lmbrd1 UTSW 1 24,767,625 (GRCm39) critical splice acceptor site probably null
R8807:Lmbrd1 UTSW 1 24,770,843 (GRCm39) missense probably benign 0.16
R8871:Lmbrd1 UTSW 1 24,783,435 (GRCm39) missense probably damaging 1.00
R8944:Lmbrd1 UTSW 1 24,767,407 (GRCm39) intron probably benign
R8954:Lmbrd1 UTSW 1 24,745,121 (GRCm39) missense possibly damaging 0.49
R9345:Lmbrd1 UTSW 1 24,724,593 (GRCm39) missense probably damaging 1.00
R9665:Lmbrd1 UTSW 1 24,732,065 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGAACCATGTTGACAGCTC -3'
(R):5'- TGTTACATGTGAAACGAAGGCC -3'

Sequencing Primer
(F):5'- ATAAGTGTTTGTTTGCTTCTCTGG -3'
(R):5'- GTTTTAGAGTGCTAAGAACAGTTGC -3'
Posted On 2015-06-12