Incidental Mutation 'R3613:Lsamp'
| ID |
269296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsamp
|
| Ensembl Gene |
ENSMUSG00000061080 |
| Gene Name |
limbic system-associated membrane protein |
| Synonyms |
B130007O04Rik, D930023J12Rik, Lam, Lamp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R3613 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
39804723-42002042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41775686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078873]
[ENSMUST00000099761]
[ENSMUST00000187695]
|
| AlphaFold |
Q8BLK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078873
AA Change: V162A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
129 |
1.81e-10 |
SMART |
|
IGc2
|
144 |
204 |
3.7e-16 |
SMART |
|
IGc2
|
230 |
297 |
2.12e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099761
AA Change: V162A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
IG
|
38 |
129 |
1.81e-10 |
SMART |
|
IGc2
|
144 |
204 |
3.7e-16 |
SMART |
|
IGc2
|
230 |
297 |
2.12e-16 |
SMART |
|
transmembrane domain
|
313 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187695
AA Change: V179A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: V179A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,864,863 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ctsh |
A |
C |
9: 89,957,763 (GRCm39) |
M281L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Hinfp |
T |
C |
9: 44,209,041 (GRCm39) |
H359R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,298 (GRCm39) |
|
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,042,564 (GRCm39) |
C63* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,937 (GRCm39) |
T131S |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,918,072 (GRCm39) |
E387G |
probably benign |
Het |
| Pelp1 |
T |
C |
11: 70,286,261 (GRCm39) |
N572S |
probably benign |
Het |
| Rdh16f2 |
A |
T |
10: 127,710,808 (GRCm39) |
I142F |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,105,441 (GRCm39) |
H1515L |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,480,520 (GRCm39) |
T729I |
probably benign |
Het |
| Tgfbi |
G |
A |
13: 56,773,539 (GRCm39) |
R179Q |
probably damaging |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,787 (GRCm39) |
N72K |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,662,766 (GRCm39) |
T1573M |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
|
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 |
|
R3891: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 |
PCR Primer
(F):5'- GAACTAACAGTATCCTGGCTACT -3'
(R):5'- GAACATATAAGCCAAAATTATGGGAAC -3'
Sequencing Primer
(F):5'- GTCTGAATGTACCTAACTTTGCTTG -3'
(R):5'- GGGAACTCTACACAACATTTATACTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation