Incidental Mutation 'IGL01347:Lgsn'
ID75109
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? Possibly non essential (E-score: 0.284) question?
Stock #IGL01347
Quality Score
Status
Chromosome1
Chromosomal Location31176401-31204725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31203960 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 374 (D374E)
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 damaging
Transcript: ENSMUST00000062560
AA Change: D374E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: D374E

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Lgsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Lgsn APN 1 31203566 missense possibly damaging 0.75
IGL01688:Lgsn APN 1 31204405 missense probably damaging 1.00
IGL02937:Lgsn APN 1 31204237 missense possibly damaging 0.63
IGL03056:Lgsn APN 1 31203624 nonsense probably null
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
R7620:Lgsn UTSW 1 31203380 missense probably benign 0.00
R8082:Lgsn UTSW 1 31204192 missense probably benign 0.17
R8220:Lgsn UTSW 1 31196800 missense probably benign 0.00
Posted On2013-10-07