Incidental Mutation 'P0033:Lmbrd1'
| ID |
7833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmbrd1
|
| Ensembl Gene |
ENSMUSG00000073725 |
| Gene Name |
LMBR1 domain containing 1 |
| Synonyms |
0910001K20Rik |
| MMRRC Submission |
038284-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24717711-24805382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24724646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 77
(T77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095062]
[ENSMUST00000186096]
[ENSMUST00000186190]
[ENSMUST00000191471]
|
| AlphaFold |
Q8K0B2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095062
AA Change: T7A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092672
Gene: ENSMUSG00000073725
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000186096
AA Change: T77A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140911
Gene: ENSMUSG00000073725
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
12 |
155 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186190
AA Change: T77A
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139893
Gene: ENSMUSG00000073725
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191471
AA Change: T77A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140783
Gene: ENSMUSG00000073725
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.2128 |
| Coding Region Coverage |
- 1x: 81.1%
- 3x: 72.9%
- 10x: 47.1%
- 20x: 23.7%
|
| Validation Efficiency |
86% (108/125) |
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1a |
T |
C |
3: 159,221,778 (GRCm39) |
S241P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,447,729 (GRCm39) |
M1K |
probably null |
Het |
| Egfem1 |
G |
C |
3: 29,744,340 (GRCm39) |
Q526H |
probably damaging |
Het |
| Gm10856 |
C |
A |
15: 79,730,023 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,712 (GRCm39) |
Y160C |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,397,108 (GRCm39) |
S303G |
probably benign |
Het |
| Map3k5 |
C |
T |
10: 20,007,959 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,255 (GRCm39) |
V696I |
probably benign |
Het |
| Orm3 |
A |
T |
4: 63,274,539 (GRCm39) |
T35S |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,222 (GRCm39) |
E1004G |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,645,253 (GRCm39) |
V1067A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,047,091 (GRCm39) |
R392* |
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,285 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 71,967,675 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,668,089 (GRCm39) |
N134S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,616,819 (GRCm39) |
P421L |
possibly damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,141,345 (GRCm39) |
I1129F |
probably damaging |
Het |
| Spats2l |
G |
A |
1: 57,924,997 (GRCm39) |
E132K |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,652,586 (GRCm39) |
T691S |
probably benign |
Het |
| Usp38 |
C |
T |
8: 81,708,525 (GRCm39) |
D1018N |
probably benign |
Het |
| Zcchc14 |
A |
C |
8: 122,336,898 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lmbrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R4241:Lmbrd1
|
UTSW |
1 |
24,732,049 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2012-10-29 |
Incidental Mutation