Incidental Mutation 'IGL01639:Lgi3'
| ID |
92933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgi3
|
| Ensembl Gene |
ENSMUSG00000033595 |
| Gene Name |
leucine-rich repeat LGI family, member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01639
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70768125-70775764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70770825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 155
(I155V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047331]
[ENSMUST00000226548]
|
| AlphaFold |
Q8K406 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047331
AA Change: I155V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046705
Gene: ENSMUSG00000033595
AA Change: I155V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
47 |
N/A |
INTRINSIC |
|
LRR
|
87 |
110 |
2.63e0 |
SMART |
|
LRR
|
111 |
134 |
1.07e0 |
SMART |
|
LRR_TYP
|
135 |
158 |
2.84e-5 |
SMART |
|
LRRCT
|
170 |
219 |
2.76e-4 |
SMART |
|
Pfam:EPTP
|
222 |
263 |
7.6e-13 |
PFAM |
|
Pfam:EPTP
|
268 |
309 |
1.3e-12 |
PFAM |
|
Pfam:EPTP
|
314 |
360 |
1.1e-14 |
PFAM |
|
Pfam:EPTP
|
363 |
405 |
2.4e-9 |
PFAM |
|
Pfam:EPTP
|
410 |
452 |
1.2e-11 |
PFAM |
|
Pfam:EPTP
|
455 |
496 |
2.2e-12 |
PFAM |
|
Pfam:EPTP
|
501 |
541 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226376
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226548
AA Change: I155V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm4 |
T |
A |
13: 3,888,302 (GRCm39) |
V136E |
probably damaging |
Het |
| Cnot8 |
A |
T |
11: 58,002,188 (GRCm39) |
I74F |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,124,527 (GRCm39) |
V213D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,204 (GRCm39) |
T565A |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,320 (GRCm39) |
N42S |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,159,976 (GRCm39) |
E381D |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,099 (GRCm39) |
I183V |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,914 (GRCm39) |
S109P |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,155,460 (GRCm39) |
I261T |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,997,094 (GRCm39) |
|
probably null |
Het |
| Plekhg1 |
A |
G |
10: 3,906,751 (GRCm39) |
E556G |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,173,185 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,592,002 (GRCm39) |
R133* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,903 (GRCm39) |
S482P |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,678,738 (GRCm39) |
A68S |
possibly damaging |
Het |
| Tmc1 |
G |
A |
19: 20,793,556 (GRCm39) |
T535M |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,561,165 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
C |
2: 121,033,173 (GRCm39) |
V1711G |
possibly damaging |
Het |
| Ubr4 |
G |
T |
4: 139,144,655 (GRCm39) |
R1488L |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,225,141 (GRCm39) |
Y456* |
probably null |
Het |
| Zc3h7a |
T |
C |
16: 10,959,572 (GRCm39) |
S794G |
possibly damaging |
Het |
| Zeb2 |
C |
T |
2: 44,887,269 (GRCm39) |
S581N |
probably benign |
Het |
| Zfp292 |
G |
A |
4: 34,809,048 (GRCm39) |
P1332L |
probably benign |
Het |
| Zfp641 |
A |
G |
15: 98,189,066 (GRCm39) |
I131T |
possibly damaging |
Het |
|
| Other mutations in Lgi3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Lgi3
|
APN |
14 |
70,771,958 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
P0007:Lgi3
|
UTSW |
14 |
70,774,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Lgi3
|
UTSW |
14 |
70,768,469 (GRCm39) |
start gained |
probably benign |
|
|
R0225:Lgi3
|
UTSW |
14 |
70,770,261 (GRCm39) |
missense |
probably benign |
|
|
R0242:Lgi3
|
UTSW |
14 |
70,772,255 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Lgi3
|
UTSW |
14 |
70,772,255 (GRCm39) |
nonsense |
probably null |
|
|
R0244:Lgi3
|
UTSW |
14 |
70,772,138 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0396:Lgi3
|
UTSW |
14 |
70,772,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Lgi3
|
UTSW |
14 |
70,771,992 (GRCm39) |
unclassified |
probably benign |
|
|
R1652:Lgi3
|
UTSW |
14 |
70,768,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Lgi3
|
UTSW |
14 |
70,772,216 (GRCm39) |
splice site |
probably null |
|
|
R1930:Lgi3
|
UTSW |
14 |
70,773,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1931:Lgi3
|
UTSW |
14 |
70,773,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2474:Lgi3
|
UTSW |
14 |
70,770,689 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4672:Lgi3
|
UTSW |
14 |
70,771,897 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5979:Lgi3
|
UTSW |
14 |
70,773,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Lgi3
|
UTSW |
14 |
70,768,610 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7146:Lgi3
|
UTSW |
14 |
70,770,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Lgi3
|
UTSW |
14 |
70,769,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Lgi3
|
UTSW |
14 |
70,768,551 (GRCm39) |
missense |
unknown |
|
|
R8124:Lgi3
|
UTSW |
14 |
70,772,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Lgi3
|
UTSW |
14 |
70,772,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Lgi3
|
UTSW |
14 |
70,768,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8881:Lgi3
|
UTSW |
14 |
70,770,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Lgi3
|
UTSW |
14 |
70,772,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation