Incidental Mutation 'IGL01347:Lgsn'
ID 75109
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) question?
Stock # IGL01347
Quality Score
Status
Chromosome 1
Chromosomal Location 31215482-31243806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31243041 bp (GRCm39)
Zygosity Heterozygous
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]
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: 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
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Lgsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Lgsn APN 1 31,242,647 (GRCm39) missense possibly damaging 0.75
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
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 2013-10-07