Incidental Mutation 'R6011:Lgsn'
| ID |
479738 |
| 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 |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
31215482-31243806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31242847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 310
(S310G)
|
| 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 damaging
Transcript: ENSMUST00000062560
AA Change: S310G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: S310G
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly 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 |
|
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 |
|
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'- CTAGGTACATCGCCAAGAGG -3'
(R):5'- CCACATCCCAGATGCTATGAG -3'
Sequencing Primer
(F):5'- AGAGGCAGCTGCGCCAG -3'
(R):5'- CCAGATGCTATGAGACAAAATTCCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation