Incidental Mutation 'IGL03056:Lgsn'
ID409228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgsn
Ensembl Gene ENSMUSG00000050217
Gene Namelengsin, lens protein with glutamine synthetase domain
Synonymslengsin, Lgs, Gluld1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL03056
Quality Score
Status
Chromosome1
Chromosomal Location31176401-31204725 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 31203624 bp
ZygosityHeterozygous
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]
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 55 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135245
SMART Domains Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,670,903 H1118R probably damaging Het
Aff1 G A 5: 103,811,081 V339I probably damaging Het
Ank1 G T 8: 23,141,179 V107F probably damaging Het
Aox3 T C 1: 58,159,021 probably null Het
Cd160 T C 3: 96,805,811 T46A probably benign Het
Col20a1 A T 2: 180,994,889 Y221F probably damaging Het
Ddx18 C T 1: 121,564,535 A148T probably benign Het
Dennd5b A G 6: 149,055,072 M307T probably damaging Het
Fam166a T A 2: 25,221,355 M232K possibly damaging Het
Fam216b G A 14: 78,082,783 H86Y probably benign Het
Fh1 A T 1: 175,606,162 C374S probably damaging Het
Fkbp14 A G 6: 54,579,544 V207A probably benign Het
Gucy1a1 T C 3: 82,113,287 K101R probably benign Het
Kcnk2 G T 1: 189,295,711 Q116K possibly damaging Het
Kdm5b C A 1: 134,587,979 Q114K probably damaging Het
Kif12 C T 4: 63,166,956 R516Q probably null Het
Lca5l C T 16: 96,161,351 C463Y probably benign Het
Lig4 A G 8: 9,972,580 I400T possibly damaging Het
Mink1 T A 11: 70,612,583 probably null Het
Mprip T A 11: 59,771,692 I2243N probably damaging Het
Myo1f A T 17: 33,585,600 Y426F probably damaging Het
Naip2 T A 13: 100,162,287 S414C possibly damaging Het
Nrg1 T C 8: 31,821,423 I363V possibly damaging Het
Olfr1278 A T 2: 111,293,172 R301S possibly damaging Het
Olfr582 A T 7: 103,041,751 I86L possibly damaging Het
Serpinb9d T C 13: 33,202,753 V268A probably damaging Het
Slc15a1 A G 14: 121,491,283 F17L possibly damaging Het
Slc9a3 T A 13: 74,150,819 V119E probably damaging Het
Sspo T A 6: 48,470,538 M2346K probably benign Het
Tcf4 G T 18: 69,651,212 probably benign Het
Trabd2b T C 4: 114,409,338 V183A probably damaging Het
Ust T C 10: 8,207,562 H350R probably benign Het
Zfp952 T A 17: 33,002,766 V35E probably damaging Het
Other mutations in Lgsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Lgsn APN 1 31203566 missense possibly damaging 0.75
IGL01347:Lgsn APN 1 31203960 missense probably damaging 1.00
IGL01688:Lgsn APN 1 31204405 missense probably damaging 1.00
IGL02937:Lgsn APN 1 31204237 missense possibly damaging 0.63
R0026:Lgsn UTSW 1 31203443 missense probably damaging 0.99
R0026:Lgsn UTSW 1 31203443 missense probably damaging 0.99
R0042:Lgsn UTSW 1 31190453 missense probably benign
R0042:Lgsn UTSW 1 31190453 missense probably benign
R0611:Lgsn UTSW 1 31203655 missense probably benign 0.01
R0905:Lgsn UTSW 1 31203743 missense probably damaging 0.99
R2248:Lgsn UTSW 1 31203526 missense possibly damaging 0.71
R3883:Lgsn UTSW 1 31176459 missense probably benign 0.00
R4782:Lgsn UTSW 1 31203742 missense probably benign 0.44
R5560:Lgsn UTSW 1 31196872 missense probably damaging 1.00
R6011:Lgsn UTSW 1 31203766 missense probably damaging 1.00
R6998:Lgsn UTSW 1 31204193 missense probably benign 0.20
R7003:Lgsn UTSW 1 31203943 missense possibly damaging 0.46
R7007:Lgsn UTSW 1 31190427 missense probably benign 0.00
R7282:Lgsn UTSW 1 31203371 missense probably damaging 1.00
Posted On2016-08-02