Incidental Mutation 'R0945:Lrsam1'
| ID |
82042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrsam1
|
| Ensembl Gene |
ENSMUSG00000026792 |
| Gene Name |
leucine rich repeat and sterile alpha motif containing 1 |
| Synonyms |
|
| MMRRC Submission |
039084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32815228-32851626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32837921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 211
(D211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028132]
[ENSMUST00000113200]
|
| AlphaFold |
Q80ZI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028132
AA Change: D211G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: D211G
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
80 |
102 |
1.26e1 |
SMART |
|
LRR
|
103 |
125 |
9.3e-1 |
SMART |
|
LRR
|
126 |
148 |
1.91e1 |
SMART |
|
LRR
|
149 |
171 |
7.05e-1 |
SMART |
|
Blast:IlGF
|
191 |
321 |
1e-71 |
BLAST |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
500 |
547 |
N/A |
INTRINSIC |
|
SAM
|
566 |
632 |
2.42e-2 |
SMART |
|
RING
|
679 |
713 |
3.51e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113200
AA Change: D211G
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: D211G
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
80 |
102 |
1.26e1 |
SMART |
|
LRR
|
103 |
125 |
9.3e-1 |
SMART |
|
LRR
|
126 |
148 |
1.91e1 |
SMART |
|
LRR
|
149 |
171 |
7.05e-1 |
SMART |
|
Blast:IlGF
|
191 |
321 |
1e-71 |
BLAST |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
500 |
547 |
N/A |
INTRINSIC |
|
SAM
|
566 |
632 |
2.42e-2 |
SMART |
|
RING
|
679 |
713 |
3.51e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
| Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
| Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
| Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
| Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
| Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
| Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
| Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
| Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
probably damaging |
Het |
|
| Other mutations in Lrsam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Lrsam1
|
APN |
2 |
32,845,185 (GRCm39) |
splice site |
probably benign |
|
|
IGL01407:Lrsam1
|
APN |
2 |
32,837,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01565:Lrsam1
|
APN |
2 |
32,826,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01985:Lrsam1
|
APN |
2 |
32,818,103 (GRCm39) |
missense |
probably benign |
|
|
IGL02743:Lrsam1
|
APN |
2 |
32,818,661 (GRCm39) |
splice site |
probably null |
|
|
R0240:Lrsam1
|
UTSW |
2 |
32,845,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Lrsam1
|
UTSW |
2 |
32,823,935 (GRCm39) |
splice site |
probably benign |
|
|
R0845:Lrsam1
|
UTSW |
2 |
32,843,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1475:Lrsam1
|
UTSW |
2 |
32,844,277 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2147:Lrsam1
|
UTSW |
2 |
32,835,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Lrsam1
|
UTSW |
2 |
32,848,171 (GRCm39) |
missense |
probably null |
1.00 |
|
R4374:Lrsam1
|
UTSW |
2 |
32,845,203 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4822:Lrsam1
|
UTSW |
2 |
32,816,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5014:Lrsam1
|
UTSW |
2 |
32,826,407 (GRCm39) |
intron |
probably benign |
|
|
R5472:Lrsam1
|
UTSW |
2 |
32,835,870 (GRCm39) |
frame shift |
probably null |
|
|
R5566:Lrsam1
|
UTSW |
2 |
32,831,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Lrsam1
|
UTSW |
2 |
32,835,864 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5992:Lrsam1
|
UTSW |
2 |
32,845,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7513:Lrsam1
|
UTSW |
2 |
32,843,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7515:Lrsam1
|
UTSW |
2 |
32,830,251 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8113:Lrsam1
|
UTSW |
2 |
32,837,901 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9731:Lrsam1
|
UTSW |
2 |
32,835,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9766:Lrsam1
|
UTSW |
2 |
32,818,077 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Lrsam1
|
UTSW |
2 |
32,831,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATGCCCATGCAGGCAC -3'
(R):5'- cacgcccggcCCAAAGTAA -3'
Sequencing Primer
(F):5'- ATCTTACCTGCCATTCAGCC -3'
(R):5'- ctctaccattcatccagccc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation