Incidental Mutation 'IGL03056:Lgsn'
| ID |
409228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgsn
|
| Ensembl Gene |
ENSMUSG00000050217 |
| Gene Name |
lengsin, lens protein with glutamine synthetase domain |
| Synonyms |
Gluld1, Lgs, lengsin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
31215482-31243806 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 31242705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 262
(Y262*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062560]
[ENSMUST00000127775]
[ENSMUST00000135245]
[ENSMUST00000187659]
|
| AlphaFold |
Q8CIX8 |
| PDB Structure |
Lengsin is a survivor of an ancient family of class I glutamine synthetases in eukaryotes that has undergone evolutionary re- engineering for a tissue-specific role in the vertebrate eye lens. [ELECTRON MICROSCOPY]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000062560
AA Change: Y262*
|
| SMART Domains |
Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: Y262*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f52a1
|
128 |
233 |
2e-20 |
SMART |
|
Gln-synt_C
|
235 |
481 |
1.67e-39 |
SMART |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127775
|
| SMART Domains |
Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135245
|
| SMART Domains |
Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187659
|
| SMART Domains |
Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
probably damaging |
Het |
|
| Other mutations in Lgsn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Lgsn
|
APN |
1 |
31,242,647 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01347:Lgsn
|
APN |
1 |
31,243,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Lgsn
|
APN |
1 |
31,243,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Lgsn
|
APN |
1 |
31,243,318 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0026:Lgsn
|
UTSW |
1 |
31,242,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Lgsn
|
UTSW |
1 |
31,242,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0042:Lgsn
|
UTSW |
1 |
31,229,534 (GRCm39) |
missense |
probably benign |
|
|
R0042:Lgsn
|
UTSW |
1 |
31,229,534 (GRCm39) |
missense |
probably benign |
|
|
R0611:Lgsn
|
UTSW |
1 |
31,242,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0905:Lgsn
|
UTSW |
1 |
31,242,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2248:Lgsn
|
UTSW |
1 |
31,242,607 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3883:Lgsn
|
UTSW |
1 |
31,215,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4782:Lgsn
|
UTSW |
1 |
31,242,823 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5560:Lgsn
|
UTSW |
1 |
31,235,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Lgsn
|
UTSW |
1 |
31,242,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Lgsn
|
UTSW |
1 |
31,243,274 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7003:Lgsn
|
UTSW |
1 |
31,243,024 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7007:Lgsn
|
UTSW |
1 |
31,229,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Lgsn
|
UTSW |
1 |
31,242,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Lgsn
|
UTSW |
1 |
31,242,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8082:Lgsn
|
UTSW |
1 |
31,243,273 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8220:Lgsn
|
UTSW |
1 |
31,235,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8467:Lgsn
|
UTSW |
1 |
31,242,731 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9312:Lgsn
|
UTSW |
1 |
31,243,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation