Incidental Mutation 'R1475:Lrsam1'
| ID |
163977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrsam1
|
| Ensembl Gene |
ENSMUSG00000026792 |
| Gene Name |
leucine rich repeat and sterile alpha motif containing 1 |
| Synonyms |
|
| MMRRC Submission |
039528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32815228-32851626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32844277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 115
(Q115K)
|
| 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: Q115K
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: Q115K
| 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: Q115K
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: Q115K
| 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
AA Change: Q115K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115830
Gene: ENSMUSG00000026792
AA Change: Q115K
| 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
AA Change: Q115K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117194
Gene: ENSMUSG00000026792
AA Change: Q115K
| 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
AA Change: Q115K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122877
Gene: ENSMUSG00000026792
AA Change: Q115K
| 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 |
0.0998 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (46/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
| 9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
| Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
| Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,018,298 (GRCm39) |
D308G |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,495 (GRCm39) |
L144S |
probably damaging |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
| Emcn |
C |
T |
3: 137,085,668 (GRCm39) |
H89Y |
possibly damaging |
Het |
| Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
| Fam78b |
T |
A |
1: 166,829,346 (GRCm39) |
I71N |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
| Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
| Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
| Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
| Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 12,890,737 (GRCm39) |
K380M |
probably damaging |
Het |
| Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
| Zfp874b |
A |
T |
13: 67,622,211 (GRCm39) |
|
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 |
|
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 |
|
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'- AGTCTCTGATTCTGAGGGTCATGGAAC -3'
(R):5'- TTTAAAAGGACAGATTCTGGGCACTCC -3'
Sequencing Primer
(F):5'- AGGGTCATGGAACTCTTTACAG -3'
(R):5'- cgtgacttaaatctcagttttccc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation