Incidental Mutation 'IGL01565:Lrsam1'
| ID |
90957 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrsam1
|
| Ensembl Gene |
ENSMUSG00000026792 |
| Gene Name |
leucine rich repeat and sterile alpha motif containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32815228-32851626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32826507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 455
(A455T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028132]
[ENSMUST00000113200]
|
| AlphaFold |
Q80ZI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028132
AA Change: A455T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: A455T
| 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 damaging
Transcript: ENSMUST00000113200
AA Change: A455T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: A455T
| 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: ENSMUST00000195713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195776
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
|
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 |
|
R0945:Lrsam1
|
UTSW |
2 |
32,837,921 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation