Incidental Mutation 'R0392:Lamp5'
| ID |
31749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamp5
|
| Ensembl Gene |
ENSMUSG00000027270 |
| Gene Name |
lysosomal-associated membrane protein family, member 5 |
| Synonyms |
6330527O06Rik, BAD-LAMP, 3110035N03Rik |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
135894159-135911837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135902817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 179
(S179P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057503]
[ENSMUST00000144403]
|
| AlphaFold |
Q9D387 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057503
AA Change: S179P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061180
Gene: ENSMUSG00000027270
AA Change: S179P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lamp
|
26 |
268 |
8.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144403
|
| SMART Domains |
Protein: ENSMUSP00000120703
Gene: ENSMUSG00000027270
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154674
|
| Meta Mutation Damage Score |
0.8630 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,670,592 (GRCm39) |
V147E |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in Lamp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Lamp5
|
APN |
2 |
135,910,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02145:Lamp5
|
APN |
2 |
135,901,509 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03058:Lamp5
|
APN |
2 |
135,911,047 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0734:Lamp5
|
UTSW |
2 |
135,900,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Lamp5
|
UTSW |
2 |
135,911,011 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2862:Lamp5
|
UTSW |
2 |
135,900,866 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3954:Lamp5
|
UTSW |
2 |
135,902,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Lamp5
|
UTSW |
2 |
135,900,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Lamp5
|
UTSW |
2 |
135,900,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Lamp5
|
UTSW |
2 |
135,902,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6394:Lamp5
|
UTSW |
2 |
135,902,929 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6701:Lamp5
|
UTSW |
2 |
135,901,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6702:Lamp5
|
UTSW |
2 |
135,901,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6703:Lamp5
|
UTSW |
2 |
135,901,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6736:Lamp5
|
UTSW |
2 |
135,901,483 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7237:Lamp5
|
UTSW |
2 |
135,901,755 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7347:Lamp5
|
UTSW |
2 |
135,902,878 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8895:Lamp5
|
UTSW |
2 |
135,902,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9051:Lamp5
|
UTSW |
2 |
135,911,054 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9205:Lamp5
|
UTSW |
2 |
135,901,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Lamp5
|
UTSW |
2 |
135,910,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTCAGGCAGCACAGTGCTTC -3'
(R):5'- AGGCCAGTAAGCCCCTCTTTTCAG -3'
Sequencing Primer
(F):5'- GACAGTGAAGAACTTGGTCCTATC -3'
(R):5'- TCAGCCCTCTTTAAATCCTCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation