Incidental Mutation 'IGL00861:Lgi2'
ID |
11750 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lgi2
|
Ensembl Gene |
ENSMUSG00000039252 |
Gene Name |
leucine-rich repeat LGI family, member 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL00861
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
52690859-52723689 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52695463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 491
(K491E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039750]
[ENSMUST00000199942]
|
AlphaFold |
Q8K4Z0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039750
AA Change: K499E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000040436 Gene: ENSMUSG00000039252 AA Change: K499E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:LRRNT
|
32 |
62 |
9e-15 |
BLAST |
LRR_TYP
|
81 |
104 |
7.26e-3 |
SMART |
LRR_TYP
|
105 |
128 |
4.72e-2 |
SMART |
LRRCT
|
140 |
189 |
4.49e-4 |
SMART |
Pfam:EPTP
|
224 |
265 |
3.9e-12 |
PFAM |
Pfam:EPTP
|
270 |
311 |
2e-13 |
PFAM |
Pfam:EPTP
|
316 |
362 |
2.1e-16 |
PFAM |
Pfam:EPTP
|
365 |
407 |
2.3e-9 |
PFAM |
Pfam:EPTP
|
412 |
454 |
4.8e-12 |
PFAM |
Pfam:EPTP
|
457 |
498 |
2.7e-14 |
PFAM |
low complexity region
|
499 |
509 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198876
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199942
AA Change: K491E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143707 Gene: ENSMUSG00000039252 AA Change: K491E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Blast:LRRNT
|
32 |
62 |
7e-15 |
BLAST |
LRR_TYP
|
81 |
104 |
7.26e-3 |
SMART |
LRR_TYP
|
105 |
128 |
4.72e-2 |
SMART |
LRR_TYP
|
129 |
152 |
5.99e-4 |
SMART |
LRRCT
|
164 |
213 |
4.49e-4 |
SMART |
Pfam:EPTP
|
216 |
257 |
5.6e-12 |
PFAM |
Pfam:EPTP
|
262 |
303 |
2.8e-13 |
PFAM |
Pfam:EPTP
|
308 |
354 |
3e-16 |
PFAM |
Pfam:EPTP
|
357 |
399 |
3.3e-9 |
PFAM |
Pfam:EPTP
|
404 |
446 |
6.8e-12 |
PFAM |
Pfam:EPTP
|
449 |
490 |
3.8e-14 |
PFAM |
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm2 |
G |
A |
15: 89,207,488 (GRCm39) |
|
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,601,271 (GRCm39) |
D189E |
possibly damaging |
Het |
Atg16l1 |
G |
A |
1: 87,702,560 (GRCm39) |
G274S |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 109,988,718 (GRCm39) |
|
probably benign |
Het |
Chat |
T |
C |
14: 32,170,980 (GRCm39) |
Y173C |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,434,096 (GRCm39) |
D874G |
probably damaging |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,125,158 (GRCm39) |
|
probably null |
Het |
Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
Glmn |
A |
T |
5: 107,718,005 (GRCm39) |
M304K |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 130,000,663 (GRCm39) |
V47A |
possibly damaging |
Het |
Lrrc72 |
T |
A |
12: 36,271,507 (GRCm39) |
Q138L |
probably benign |
Het |
Nherf4 |
A |
G |
9: 44,160,933 (GRCm39) |
L211P |
possibly damaging |
Het |
Nxph2 |
T |
A |
2: 23,289,974 (GRCm39) |
F109I |
probably damaging |
Het |
Oosp3 |
A |
G |
19: 11,689,004 (GRCm39) |
D84G |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,514 (GRCm39) |
R106C |
probably benign |
Het |
Ptk2 |
A |
G |
15: 73,134,396 (GRCm39) |
S568P |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,276,453 (GRCm39) |
I1093V |
probably benign |
Het |
Snx2 |
G |
A |
18: 53,343,869 (GRCm39) |
|
probably null |
Het |
Washc5 |
G |
T |
15: 59,209,125 (GRCm39) |
T1033K |
probably damaging |
Het |
|
Other mutations in Lgi2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Lgi2
|
APN |
5 |
52,711,807 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02086:Lgi2
|
APN |
5 |
52,723,299 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03091:Lgi2
|
APN |
5 |
52,721,307 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03367:Lgi2
|
APN |
5 |
52,719,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03388:Lgi2
|
APN |
5 |
52,695,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0388:Lgi2
|
UTSW |
5 |
52,711,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R0602:Lgi2
|
UTSW |
5 |
52,711,765 (GRCm39) |
missense |
probably damaging |
0.98 |
R0633:Lgi2
|
UTSW |
5 |
52,711,802 (GRCm39) |
missense |
probably damaging |
0.97 |
R1616:Lgi2
|
UTSW |
5 |
52,703,980 (GRCm39) |
missense |
probably benign |
0.00 |
R1916:Lgi2
|
UTSW |
5 |
52,703,974 (GRCm39) |
missense |
probably benign |
|
R2072:Lgi2
|
UTSW |
5 |
52,695,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R2512:Lgi2
|
UTSW |
5 |
52,695,307 (GRCm39) |
makesense |
probably null |
|
R4614:Lgi2
|
UTSW |
5 |
52,695,775 (GRCm39) |
missense |
probably damaging |
0.99 |
R4855:Lgi2
|
UTSW |
5 |
52,695,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Lgi2
|
UTSW |
5 |
52,695,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Lgi2
|
UTSW |
5 |
52,711,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R5311:Lgi2
|
UTSW |
5 |
52,711,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R6074:Lgi2
|
UTSW |
5 |
52,703,984 (GRCm39) |
missense |
probably benign |
|
R7089:Lgi2
|
UTSW |
5 |
52,695,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R7376:Lgi2
|
UTSW |
5 |
52,695,604 (GRCm39) |
missense |
probably damaging |
0.99 |
R7396:Lgi2
|
UTSW |
5 |
52,695,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Lgi2
|
UTSW |
5 |
52,695,873 (GRCm39) |
missense |
probably benign |
0.03 |
R8007:Lgi2
|
UTSW |
5 |
52,723,375 (GRCm39) |
missense |
probably benign |
0.01 |
R8073:Lgi2
|
UTSW |
5 |
52,704,013 (GRCm39) |
missense |
probably benign |
|
R9137:Lgi2
|
UTSW |
5 |
52,695,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Lgi2
|
UTSW |
5 |
52,695,936 (GRCm39) |
missense |
probably benign |
0.36 |
R9505:Lgi2
|
UTSW |
5 |
52,711,775 (GRCm39) |
missense |
probably benign |
0.00 |
R9723:Lgi2
|
UTSW |
5 |
52,695,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |