Incidental Mutation 'R6538:Lamp1'
| ID |
520537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamp1
|
| Ensembl Gene |
ENSMUSG00000031447 |
| Gene Name |
lysosomal-associated membrane protein 1 |
| Synonyms |
Lamp-1, Perk, CD107a |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13209161-13225338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13221285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 209
(T209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033824]
[ENSMUST00000209895]
[ENSMUST00000210317]
|
| AlphaFold |
P11438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033824
AA Change: T209A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: T209A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,904 (GRCm39) |
E19G |
probably benign |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
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 |
|
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 |
|
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'- CAGAGTTCAGAAGTGGGTGTC -3'
(R):5'- ATGTAGCCCAGGACTCAGAG -3'
Sequencing Primer
(F):5'- GGGTGTCTCTAGTTCTAACATGCAC -3'
(R):5'- CCTGCACAACTGATACAGTATATAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation