Incidental Mutation 'IGL01765:Lsg1'
ID153306
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 #IGL01765
Quality Score
Status
Chromosome16
Chromosomal Location30560494-30587592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30582095 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 132 (E132G)
Ref Sequence ENSEMBL: ENSMUSP00000112860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117363] [ENSMUST00000123286] [ENSMUST00000143170]
Predicted Effect probably damaging
Transcript: ENSMUST00000117363
AA Change: E132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: E132G

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,719,535 M11K probably benign Het
Agap2 T C 10: 127,083,235 V442A unknown Het
B020004J07Rik T C 4: 101,837,852 I87M probably benign Het
Cdh7 C T 1: 110,061,106 T246I probably damaging Het
Creb3l1 T C 2: 92,024,101 D2G possibly damaging Het
Dicer1 G A 12: 104,706,740 R811C probably damaging Het
Drosha C A 15: 12,902,680 A1012E probably damaging Het
Eftud2 A G 11: 102,839,256 I896T probably damaging Het
Fastkd5 T C 2: 130,615,734 Y312C possibly damaging Het
Flt3 A G 5: 147,357,978 F428L probably benign Het
Hrh4 G A 18: 13,007,195 R49Q probably damaging Het
Lrp6 T C 6: 134,456,145 T1408A probably damaging Het
Ltf T C 9: 111,022,017 V99A possibly damaging Het
Mettl13 A T 1: 162,538,953 D452E probably benign Het
Ndufa7 G T 17: 33,829,812 E83* probably null Het
Nmrk1 C T 19: 18,639,538 T17M probably damaging Het
Ntsr1 A G 2: 180,538,717 E272G possibly damaging Het
Obscn T C 11: 59,115,784 K1184R possibly damaging Het
Olfr1240 C T 2: 89,439,800 V160I probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr380 A C 11: 73,453,477 L245R probably damaging Het
Olfr419 T G 1: 174,250,137 K263N probably damaging Het
Olfr736 A T 14: 50,392,834 Q26L probably benign Het
Olfr862 A T 9: 19,883,951 M118K possibly damaging Het
Pcdhb10 A G 18: 37,414,019 K716R probably benign Het
Phldb3 A G 7: 24,617,375 D267G possibly damaging Het
Plcb2 T A 2: 118,710,268 probably benign Het
Pusl1 A G 4: 155,889,713 F219L probably damaging Het
Rbbp6 T C 7: 122,999,954 probably benign Het
Rev3l T A 10: 39,828,265 D228E probably benign Het
Rnf213 A T 11: 119,436,352 M1723L probably benign Het
Sc5d A G 9: 42,256,168 F128S probably damaging Het
Sco1 T C 11: 67,053,790 S80P probably damaging Het
Supt16 C T 14: 52,180,223 R278H probably damaging Het
Supt6 A G 11: 78,222,159 I986T probably benign Het
Trio A G 15: 27,764,026 V860A possibly damaging Het
Uck1 A G 2: 32,258,676 probably benign Het
Vmn2r63 T C 7: 42,903,364 T823A probably benign Het
Other mutations in Lsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02714:Lsg1 APN 16 30585550 splice site probably null
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 not run
X0065:Lsg1 UTSW 16 30571458 missense probably benign
Z1177:Lsg1 UTSW 16 30573289 missense probably damaging 1.00
Posted On2014-02-04