Incidental Mutation 'R0845:Lrsam1'
| ID |
77309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrsam1
|
| Ensembl Gene |
ENSMUSG00000026792 |
| Gene Name |
leucine rich repeat and sterile alpha motif containing 1 |
| Synonyms |
|
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32815228-32851626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32843455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 150
(R150Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028132]
[ENSMUST00000113200]
[ENSMUST00000124492]
[ENSMUST00000127321]
[ENSMUST00000133832]
[ENSMUST00000145578]
[ENSMUST00000147528]
[ENSMUST00000191838]
|
| AlphaFold |
Q80ZI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028132
AA Change: R150Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: R150Q
| 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 |
possibly damaging
Transcript: ENSMUST00000113200
AA Change: R150Q
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: R150Q
| 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: ENSMUST00000124492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127321
|
| SMART Domains |
Protein: ENSMUSP00000115830
Gene: ENSMUSG00000026792
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
80 |
102 |
1.26e1 |
SMART |
|
LRR_TYP
|
103 |
126 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133832
|
| SMART Domains |
Protein: ENSMUSP00000117194
Gene: ENSMUSG00000026792
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
80 |
102 |
1.26e1 |
SMART |
|
LRR_TYP
|
103 |
126 |
1.79e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147528
|
| SMART Domains |
Protein: ENSMUSP00000122877
Gene: ENSMUSG00000026792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_1
|
32 |
52 |
8.9e-2 |
PFAM |
|
LRR
|
80 |
102 |
1.26e1 |
SMART |
|
LRR
|
103 |
124 |
3.75e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191838
|
| Meta Mutation Damage Score |
0.1173 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTGTGTGTCCTAGACAGGTTGC -3'
(R):5'- AAGGCCAGGTGTCCTGAGCTGC -3'
Sequencing Primer
(F):5'- aaaccctttcctccccaac -3'
(R):5'- CTGCTCGGCTAATAAGCAGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation