Incidental Mutation 'IGL00980:Lamp1'
ID |
28089 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lamp1
|
Ensembl Gene |
ENSMUSG00000031447 |
Gene Name |
lysosomal-associated membrane protein 1 |
Synonyms |
Lamp-1, Perk, CD107a |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00980
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
13209161-13225338 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 13221195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033824]
[ENSMUST00000209895]
[ENSMUST00000210317]
|
AlphaFold |
P11438 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033824
|
SMART Domains |
Protein: ENSMUSP00000033824 Gene: ENSMUSG00000031447
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Lamp
|
106 |
406 |
4.8e-118 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209709
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209895
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210317
|
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 is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
Het |
|
Other mutations in Lamp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01516:Lamp1
|
APN |
8 |
13,223,863 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01541:Lamp1
|
APN |
8 |
13,215,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Lamp1
|
UTSW |
8 |
13,224,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Lamp1
|
UTSW |
8 |
13,224,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Lamp1
|
UTSW |
8 |
13,224,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Lamp1
|
UTSW |
8 |
13,222,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Lamp1
|
UTSW |
8 |
13,222,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1875:Lamp1
|
UTSW |
8 |
13,217,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Lamp1
|
UTSW |
8 |
13,222,545 (GRCm39) |
missense |
probably benign |
0.40 |
R2887:Lamp1
|
UTSW |
8 |
13,223,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R2888:Lamp1
|
UTSW |
8 |
13,223,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R2889:Lamp1
|
UTSW |
8 |
13,223,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R2890:Lamp1
|
UTSW |
8 |
13,223,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4235:Lamp1
|
UTSW |
8 |
13,217,192 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4817:Lamp1
|
UTSW |
8 |
13,222,541 (GRCm39) |
missense |
probably benign |
0.43 |
R5654:Lamp1
|
UTSW |
8 |
13,221,388 (GRCm39) |
splice site |
probably null |
|
R5942:Lamp1
|
UTSW |
8 |
13,223,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R6538:Lamp1
|
UTSW |
8 |
13,221,285 (GRCm39) |
missense |
probably benign |
0.00 |
R6917:Lamp1
|
UTSW |
8 |
13,222,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Lamp1
|
UTSW |
8 |
13,223,661 (GRCm39) |
missense |
probably damaging |
0.98 |
R7262:Lamp1
|
UTSW |
8 |
13,217,296 (GRCm39) |
missense |
probably benign |
0.01 |
R7680:Lamp1
|
UTSW |
8 |
13,217,812 (GRCm39) |
missense |
probably benign |
|
R8123:Lamp1
|
UTSW |
8 |
13,217,158 (GRCm39) |
missense |
probably benign |
|
R8697:Lamp1
|
UTSW |
8 |
13,224,448 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-04-17 |