Incidental Mutation 'R4554:Lsamp'
| ID |
341824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsamp
|
| Ensembl Gene |
ENSMUSG00000061080 |
| Gene Name |
limbic system-associated membrane protein |
| Synonyms |
B130007O04Rik, D930023J12Rik, Lam, Lamp |
| MMRRC Submission |
041596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R4554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
39804723-42002042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 41964438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 271
(D271H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078873]
[ENSMUST00000099761]
[ENSMUST00000187695]
|
| AlphaFold |
Q8BLK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078873
AA Change: D254H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: D254H
| 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 damaging
Transcript: ENSMUST00000099761
AA Change: D254H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: D254H
| 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 |
unknown
Transcript: ENSMUST00000133853
AA Change: D17H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145951
AA Change: D31H
|
| SMART Domains |
Protein: ENSMUSP00000115823
Gene: ENSMUSG00000061080
AA Change: D31H
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
8 |
75 |
2.12e-16 |
SMART |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187695
AA Change: D271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: D271H
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,949,992 (GRCm39) |
A1772V |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,294 (GRCm39) |
G4526D |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,601,599 (GRCm39) |
R2150H |
probably benign |
Het |
| Amh |
A |
T |
10: 80,642,885 (GRCm39) |
E356D |
probably benign |
Het |
| Cap2 |
T |
A |
13: 46,789,250 (GRCm39) |
F152I |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,485,631 (GRCm39) |
M206K |
unknown |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,406 (GRCm39) |
V133G |
probably damaging |
Het |
| Ngrn |
C |
T |
7: 79,914,449 (GRCm39) |
T200I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,123 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,469,216 (GRCm39) |
T117A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,539,529 (GRCm39) |
K357E |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,720,100 (GRCm39) |
R325H |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,946 (GRCm39) |
P366L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,762 (GRCm39) |
N359S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,433 (GRCm39) |
T499A |
probably benign |
Het |
| Tex2 |
G |
T |
11: 106,435,212 (GRCm39) |
P738H |
unknown |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,699,847 (GRCm39) |
Q452R |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,088 (GRCm39) |
N87D |
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 |
|
R3891:Lsamp
|
UTSW |
16 |
39,805,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TAGAGCCTCCTCCTTTCATGTAAAC -3'
(R):5'- TTGGGTTCAGCTTAAGGGCTAC -3'
Sequencing Primer
(F):5'- ATGTAAACTGGTGTATCCCTCC -3'
(R):5'- GGTTCAGCTTAAGGGCTACAATTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation