Incidental Mutation 'R3891:Lsamp'
| ID |
474659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsamp
|
| Ensembl Gene |
ENSMUSG00000061080 |
| Gene Name |
limbic system-associated membrane protein |
| Synonyms |
B130007O04Rik, D930023J12Rik, Lam, Lamp |
| MMRRC Submission |
040803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R3891 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
39804723-42002042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39805054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 11
(V11A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187695]
[ENSMUST00000189229]
[ENSMUST00000189358]
[ENSMUST00000191610]
|
| AlphaFold |
Q8BLK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187695
AA Change: V11A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: V11A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
55 |
146 |
7.6e-13 |
SMART |
|
IGc2
|
161 |
221 |
1.5e-18 |
SMART |
|
IGc2
|
247 |
314 |
8.6e-19 |
SMART |
|
transmembrane domain
|
330 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191610
|
| SMART Domains |
Protein: ENSMUSP00000140114
Gene: ENSMUSG00000061080
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for mutations in this gene are hyperresponsive to novel environments. Mice homozygous for another knock-out allele exhibit reduced barbering, whisker trimming, anxiety, dominance, and aggression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
| Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
probably benign |
Het |
|
| Other mutations in Lsamp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01665:Lsamp
|
APN |
16 |
41,964,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL02869:Lsamp
|
APN |
16 |
41,965,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0930:Lsamp
|
UTSW |
16 |
41,709,327 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1147:Lsamp
|
UTSW |
16 |
41,994,499 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Lsamp
|
UTSW |
16 |
41,971,592 (GRCm39) |
intron |
probably benign |
|
|
R1649:Lsamp
|
UTSW |
16 |
41,775,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1656:Lsamp
|
UTSW |
16 |
41,775,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Lsamp
|
UTSW |
16 |
41,709,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3613:Lsamp
|
UTSW |
16 |
41,775,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3732:Lsamp
|
UTSW |
16 |
41,964,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Lsamp
|
UTSW |
16 |
41,965,133 (GRCm39) |
missense |
probably benign |
|
|
R3838:Lsamp
|
UTSW |
16 |
41,954,675 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3890:Lsamp
|
UTSW |
16 |
39,805,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4554:Lsamp
|
UTSW |
16 |
41,964,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Lsamp
|
UTSW |
16 |
41,775,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Lsamp
|
UTSW |
16 |
41,954,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Lsamp
|
UTSW |
16 |
41,954,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Lsamp
|
UTSW |
16 |
41,954,788 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6217:Lsamp
|
UTSW |
16 |
41,954,675 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6477:Lsamp
|
UTSW |
16 |
41,988,528 (GRCm39) |
intron |
probably benign |
|
|
R6637:Lsamp
|
UTSW |
16 |
41,353,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8256:Lsamp
|
UTSW |
16 |
41,965,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Lsamp
|
UTSW |
16 |
41,994,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9606:Lsamp
|
UTSW |
16 |
41,709,292 (GRCm39) |
missense |
probably benign |
0.30 |
|
X0024:Lsamp
|
UTSW |
16 |
41,964,921 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation