Incidental Mutation 'IGL03091:Lgi2'
| ID |
418399 |
| 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: 0.054)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52690859-52723689 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 52721307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039750]
[ENSMUST00000199942]
|
| AlphaFold |
Q8K4Z0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039750
|
| SMART Domains |
Protein: ENSMUSP00000040436
Gene: ENSMUSG00000039252
| 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 |
probably null
Transcript: ENSMUST00000199942
|
| SMART Domains |
Protein: ENSMUSP00000143707
Gene: ENSMUSG00000039252
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
Het |
|
| Other mutations in Lgi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Lgi2
|
APN |
5 |
52,695,463 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation