Incidental Mutation 'R2887:Lamp1'
| ID |
261086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamp1
|
| Ensembl Gene |
ENSMUSG00000031447 |
| Gene Name |
lysosomal-associated membrane protein 1 |
| Synonyms |
Lamp-1, Perk, CD107a |
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13209161-13225338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13223891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 341
(L341H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033824]
[ENSMUST00000165605]
[ENSMUST00000209691]
[ENSMUST00000209895]
[ENSMUST00000210317]
[ENSMUST00000211128]
|
| AlphaFold |
P11438 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033824
AA Change: L341H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: L341H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Lamp
|
106 |
406 |
4.8e-118 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165605
|
| SMART Domains |
Protein: ENSMUSP00000130324
Gene: ENSMUSG00000038515
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
71 |
287 |
2.03e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210317
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211128
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,960 (GRCm39) |
G35E |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,235,341 (GRCm39) |
T214A |
probably benign |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,122 (GRCm39) |
I7F |
probably benign |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,549 (GRCm39) |
H399R |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,052 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
probably damaging |
Het |
|
| Other mutations in Lamp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Lamp1
|
APN |
8 |
13,221,195 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATATGACTCTTCCTGATGCCC -3'
(R):5'- GAGGAAAAGGGTGTTTGCTCC -3'
Sequencing Primer
(F):5'- TTCCTGATGCCCTAGGTGAGAC -3'
(R):5'- TGCTACTTACCAGACCCA -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation