Incidental Mutation 'IGL02154:Lacc1'
| ID |
282156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lacc1
|
| Ensembl Gene |
ENSMUSG00000044350 |
| Gene Name |
laccase domain containing 1 |
| Synonyms |
9030625A04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
77261640-77274344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77270727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 269
(V269A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048208]
[ENSMUST00000062789]
[ENSMUST00000095625]
[ENSMUST00000142300]
[ENSMUST00000175810]
|
| AlphaFold |
Q8BZT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048208
|
| SMART Domains |
Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
182 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062789
AA Change: V269A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000059173
Gene: ENSMUSG00000044350
AA Change: V269A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_4
|
195 |
427 |
1.1e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095625
|
| SMART Domains |
Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
68 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175810
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fatty acid oxidation and glycolysis in macrophages and increased susceptibility to LPS-induced endotoxin shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
| AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
| Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
| Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
| Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
| Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
| Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
| Other mutations in Lacc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Lacc1
|
APN |
14 |
77,267,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03054:Lacc1
|
UTSW |
14 |
77,268,355 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4280001:Lacc1
|
UTSW |
14 |
77,272,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Lacc1
|
UTSW |
14 |
77,268,239 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0352:Lacc1
|
UTSW |
14 |
77,272,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0606:Lacc1
|
UTSW |
14 |
77,267,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Lacc1
|
UTSW |
14 |
77,271,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1606:Lacc1
|
UTSW |
14 |
77,267,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3419:Lacc1
|
UTSW |
14 |
77,272,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3615:Lacc1
|
UTSW |
14 |
77,270,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3616:Lacc1
|
UTSW |
14 |
77,270,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4497:Lacc1
|
UTSW |
14 |
77,271,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5207:Lacc1
|
UTSW |
14 |
77,271,594 (GRCm39) |
splice site |
probably null |
|
|
R5902:Lacc1
|
UTSW |
14 |
77,272,239 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5974:Lacc1
|
UTSW |
14 |
77,272,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Lacc1
|
UTSW |
14 |
77,267,096 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7284:Lacc1
|
UTSW |
14 |
77,268,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Lacc1
|
UTSW |
14 |
77,266,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Lacc1
|
UTSW |
14 |
77,272,475 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8951:Lacc1
|
UTSW |
14 |
77,272,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9225:Lacc1
|
UTSW |
14 |
77,272,414 (GRCm39) |
nonsense |
probably null |
|
|
R9467:Lacc1
|
UTSW |
14 |
77,267,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation