Incidental Mutation 'IGL02023:Lsg1'
ID184052
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: 0.934) question?
Stock #IGL02023
Quality Score
Status
Chromosome16
Chromosomal Location30560494-30587592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30585676 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 35 (H35R)
Ref Sequence ENSEMBL: ENSMUSP00000112860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117363] [ENSMUST00000123286] [ENSMUST00000143170]
Predicted Effect probably damaging
Transcript: ENSMUST00000117363
AA Change: H35R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: H35R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Lsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Lsg1 APN 16 30582095 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 synonymous 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 intron probably null
R7869:Lsg1 UTSW 16 30564722 missense probably benign 0.00
R8198:Lsg1 UTSW 16 30564776 missense probably benign
X0065:Lsg1 UTSW 16 30571458 missense probably benign
Z1177:Lsg1 UTSW 16 30573289 missense probably damaging 1.00
Posted On2014-05-07