Incidental Mutation 'R3883:Lgsn'
ID |
308799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lgsn
|
Ensembl Gene |
ENSMUSG00000050217 |
Gene Name |
lengsin, lens protein with glutamine synthetase domain |
Synonyms |
Gluld1, Lgs, lengsin |
MMRRC Submission |
040796-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.224)
|
Stock # |
R3883 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
31215482-31243806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 31215540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 3
(D3E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059871
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062560]
[ENSMUST00000127775]
[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 benign
Transcript: ENSMUST00000062560
AA Change: D3E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059871 Gene: ENSMUSG00000050217 AA Change: D3E
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: 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (45/46) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
C |
T |
8: 46,980,228 (GRCm39) |
S423L |
probably benign |
Het |
Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,216,052 (GRCm39) |
M343K |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
Cdk17 |
T |
C |
10: 93,047,939 (GRCm39) |
|
probably null |
Het |
Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,004,421 (GRCm39) |
W261R |
unknown |
Het |
Dchs1 |
A |
G |
7: 105,411,770 (GRCm39) |
Y1449H |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,138,518 (GRCm39) |
N772K |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,942,188 (GRCm39) |
|
probably benign |
Het |
Edn1 |
T |
A |
13: 42,455,382 (GRCm39) |
F4L |
probably benign |
Het |
Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,258 (GRCm39) |
D267G |
possibly damaging |
Het |
Fbxo22 |
A |
T |
9: 55,130,546 (GRCm39) |
T169S |
probably benign |
Het |
Fmnl1 |
A |
G |
11: 103,072,940 (GRCm39) |
N144D |
probably damaging |
Het |
Folh1 |
A |
G |
7: 86,424,864 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10220 |
A |
C |
5: 26,321,908 (GRCm39) |
S255A |
possibly damaging |
Het |
Gm15446 |
G |
T |
5: 110,088,313 (GRCm39) |
V9L |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,676,200 (GRCm39) |
L1011P |
probably damaging |
Het |
Kif4-ps |
G |
T |
12: 101,112,473 (GRCm39) |
V201L |
probably damaging |
Het |
Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
Mavs |
T |
C |
2: 131,087,218 (GRCm39) |
S239P |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,219,322 (GRCm39) |
V667D |
probably damaging |
Het |
Mtrf1 |
A |
G |
14: 79,656,707 (GRCm39) |
Y403C |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,389,894 (GRCm39) |
S190P |
probably damaging |
Het |
Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
Or10d4c |
A |
G |
9: 39,558,420 (GRCm39) |
I133V |
probably benign |
Het |
Or13p5 |
T |
C |
4: 118,591,882 (GRCm39) |
I52T |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,620,504 (GRCm39) |
K1632E |
probably damaging |
Het |
Pigk |
T |
C |
3: 152,419,832 (GRCm39) |
S21P |
probably benign |
Het |
Rabggtb |
A |
G |
3: 153,616,417 (GRCm39) |
F82L |
probably damaging |
Het |
Reep6 |
G |
A |
10: 80,171,369 (GRCm39) |
R415Q |
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,302 (GRCm39) |
V159A |
probably benign |
Het |
Slc5a8 |
T |
A |
10: 88,738,325 (GRCm39) |
M196K |
possibly damaging |
Het |
Sprr1a |
G |
A |
3: 92,391,827 (GRCm39) |
P58L |
probably damaging |
Het |
Taf1a |
A |
T |
1: 183,172,288 (GRCm39) |
T10S |
possibly damaging |
Het |
Tap1 |
T |
A |
17: 34,412,232 (GRCm39) |
V479E |
probably damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 187,995,579 (GRCm39) |
Y117H |
probably benign |
Het |
Vmn2r58 |
A |
T |
7: 41,513,914 (GRCm39) |
L243* |
probably null |
Het |
Zbtb32 |
A |
G |
7: 30,290,569 (GRCm39) |
I242T |
probably benign |
Het |
Zbtb7a |
T |
C |
10: 80,983,859 (GRCm39) |
C434R |
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 |
IGL03056:Lgsn
|
APN |
1 |
31,242,705 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTTGCTGCTGGGCTATTC -3'
(R):5'- GCGAAACAGGACACTTCTTC -3'
Sequencing Primer
(F):5'- CTAGGGCATGGCTCATATCCTG -3'
(R):5'- GGACACTTCTTCACAAACTTCCCG -3'
|
Posted On |
2015-04-17 |