Incidental Mutation 'IGL02714:Lsg1'
ID304693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsg1
Ensembl Gene ENSMUSG00000022538
Gene Namelarge 60S subunit nuclear export GTPase 1
SynonymsD16Bwg1547e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #IGL02714
Quality Score
Status
Chromosome16
Chromosomal Location30560494-30587592 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 30585550 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117363] [ENSMUST00000123286] [ENSMUST00000143170]
Predicted Effect probably null
Transcript: ENSMUST00000117363
SMART Domains Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
coiled coil region 129 151 N/A INTRINSIC
SCOP:d1h65a_ 165 280 2e-3 SMART
low complexity region 300 309 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
Pfam:MMR_HSR1 374 461 1.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150499
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 related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,758,807 probably benign Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cd86 T C 16: 36,620,928 D59G possibly damaging Het
Ckmt2 A G 13: 91,858,308 M306T possibly damaging Het
Dsc1 T C 18: 20,087,485 E744G probably damaging Het
Gpr139 T A 7: 119,145,119 D81V possibly damaging Het
Ly9 A G 1: 171,605,118 V109A possibly damaging Het
Mcm3ap T A 10: 76,511,033 S1806T probably benign Het
Met T A 6: 17,491,852 Y204* probably null Het
Olfr881 T A 9: 37,993,086 I198N possibly damaging Het
Ppp1r13l T C 7: 19,377,643 S798P possibly damaging Het
Ppp2r5b C T 19: 6,234,707 R42H probably damaging Het
Prg2 T A 2: 84,983,505 I220N probably damaging Het
Prph A G 15: 99,056,866 D271G probably damaging Het
Rassf9 T A 10: 102,512,563 L9Q possibly damaging Het
Rpap3 A G 15: 97,696,577 Y157H possibly damaging Het
Tacstd2 A T 6: 67,535,069 I213N probably damaging Het
Tlr12 A G 4: 128,617,713 L248P probably damaging Het
Trip11 A T 12: 101,884,001 I1268N probably damaging Het
Zp1 C T 19: 10,918,612 G220D probably damaging Het
Other mutations in Lsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Lsg1 APN 16 30582095 missense probably damaging 1.00
IGL02023:Lsg1 APN 16 30585676 missense probably damaging 1.00
IGL02530:Lsg1 APN 16 30571242 missense probably benign 0.31
IGL02647:Lsg1 APN 16 30585552 critical splice donor site probably null
IGL02710:Lsg1 APN 16 30571474 missense probably benign
IGL02938:Lsg1 APN 16 30571206 missense probably benign
R1349:Lsg1 UTSW 16 30564654 missense possibly damaging 0.94
R1372:Lsg1 UTSW 16 30564654 missense possibly damaging 0.94
R1569:Lsg1 UTSW 16 30581005 splice site probably null
R1667:Lsg1 UTSW 16 30571352 missense probably damaging 1.00
R2445:Lsg1 UTSW 16 30564695 missense probably benign 0.01
R2991:Lsg1 UTSW 16 30561729 missense probably damaging 0.97
R3611:Lsg1 UTSW 16 30561795 missense probably benign 0.04
R4256:Lsg1 UTSW 16 30573243 missense probably benign 0.01
R4700:Lsg1 UTSW 16 30565449 missense probably damaging 0.99
R4750:Lsg1 UTSW 16 30565449 missense probably damaging 0.99
R5114:Lsg1 UTSW 16 30561720 missense probably damaging 1.00
R5580:Lsg1 UTSW 16 30569167 missense probably null 0.91
R5589:Lsg1 UTSW 16 30581001 missense probably damaging 1.00
R5719:Lsg1 UTSW 16 30561775 missense probably benign 0.00
R5721:Lsg1 UTSW 16 30561775 missense probably benign 0.00
R6377:Lsg1 UTSW 16 30574568 missense possibly damaging 0.95
R6899:Lsg1 UTSW 16 30582088 missense probably benign
R7469:Lsg1 UTSW 16 30561817 missense probably benign 0.08
R7530:Lsg1 UTSW 16 30582601 missense possibly damaging 0.65
R7737:Lsg1 UTSW 16 30581185 splice site probably null
R7869:Lsg1 UTSW 16 30564722 missense probably benign 0.00
R8198:Lsg1 UTSW 16 30564776 missense probably benign
R8439:Lsg1 UTSW 16 30561751 missense probably damaging 1.00
X0065:Lsg1 UTSW 16 30571458 missense probably benign
Z1177:Lsg1 UTSW 16 30573289 missense probably damaging 1.00
Posted On2015-04-16