Incidental Mutation 'IGL01407:Lrsam1'
| ID |
79851 |
| 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: 0.077)
|
| Stock # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32815228-32851626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32837915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 213
(Y213C)
|
| 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: Y213C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: Y213C
| 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: Y213C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: Y213C
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
| Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
probably benign |
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 |
|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation