Incidental Mutation 'R2890:Lamp1'
| ID |
260063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamp1
|
| Ensembl Gene |
ENSMUSG00000031447 |
| Gene Name |
lysosomal-associated membrane protein 1 |
| Synonyms |
Lamp-1, Perk, CD107a |
| MMRRC Submission |
040478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2890 (G1)
|
| Quality Score |
225 |
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| A1cf |
A |
G |
19: 31,895,417 (GRCm39) |
I167V |
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,363,126 (GRCm39) |
K321E |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,945,302 (GRCm39) |
H1351R |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,496,026 (GRCm39) |
D127G |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,048 (GRCm39) |
Y356C |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,673,800 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,583,325 (GRCm39) |
L474P |
probably damaging |
Het |
| Fzd7 |
C |
T |
1: 59,523,593 (GRCm39) |
A492V |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,754,479 (GRCm39) |
L876P |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,515 (GRCm39) |
T144A |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,276,885 (GRCm39) |
V2835A |
probably damaging |
Het |
| Lcn10 |
T |
C |
2: 25,573,642 (GRCm39) |
L73P |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,249 (GRCm39) |
T347A |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,634 (GRCm39) |
I50F |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,379 (GRCm39) |
C791Y |
probably benign |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Rbsn |
C |
T |
6: 92,184,104 (GRCm39) |
V70M |
possibly damaging |
Het |
| Slc25a1 |
A |
T |
16: 17,743,963 (GRCm39) |
L251Q |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,758 (GRCm39) |
I70L |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,937,849 (GRCm39) |
S278P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,498 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,661,027 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
G |
T |
12: 85,076,587 (GRCm39) |
R646L |
probably damaging |
Het |
| Zfp51 |
C |
G |
17: 21,684,118 (GRCm39) |
C244W |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,184,393 (GRCm39) |
T141K |
probably benign |
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 |
|
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'- TTCCTGATGCCCTAGGTGAG -3'
(R):5'- CTGTCTTTGCAGAGGAAAAGG -3'
Sequencing Primer
(F):5'- TAGGTGAGACTGGCTTCCTCC -3'
(R):5'- TGCTACTTACCAGACCCA -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation