Incidental Mutation 'IGL02023:Lsg1'
ID 184052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsg1
Ensembl Gene ENSMUSG00000022538
Gene Name large 60S subunit nuclear export GTPase 1
Synonyms D16Bwg1547e
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL02023
Quality Score
Status
Chromosome 16
Chromosomal Location 30380187-30406430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30404494 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UM18
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: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Atp7a A T X: 105,138,588 (GRCm39) I604F probably damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Hycc2 G A 1: 58,569,274 (GRCm39) A435V possibly damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Or2aj6 A T 16: 19,443,158 (GRCm39) S231T probably benign Het
Osbpl10 T A 9: 115,055,790 (GRCm39) V654D probably damaging Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Timm23 A G 14: 31,915,804 (GRCm39) probably benign Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Lsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Lsg1 APN 16 30,400,913 (GRCm39) missense probably damaging 1.00
IGL02530:Lsg1 APN 16 30,390,060 (GRCm39) missense probably benign 0.31
IGL02647:Lsg1 APN 16 30,404,370 (GRCm39) critical splice donor site probably null
IGL02710:Lsg1 APN 16 30,390,292 (GRCm39) missense probably benign
IGL02714:Lsg1 APN 16 30,404,368 (GRCm39) splice site probably null
IGL02938:Lsg1 APN 16 30,390,024 (GRCm39) missense probably benign
R1349:Lsg1 UTSW 16 30,383,472 (GRCm39) missense possibly damaging 0.94
R1372:Lsg1 UTSW 16 30,383,472 (GRCm39) missense possibly damaging 0.94
R1569:Lsg1 UTSW 16 30,399,823 (GRCm39) splice site probably null
R1667:Lsg1 UTSW 16 30,390,170 (GRCm39) missense probably damaging 1.00
R2445:Lsg1 UTSW 16 30,383,513 (GRCm39) missense probably benign 0.01
R2991:Lsg1 UTSW 16 30,380,547 (GRCm39) missense probably damaging 0.97
R3611:Lsg1 UTSW 16 30,380,613 (GRCm39) missense probably benign 0.04
R4256:Lsg1 UTSW 16 30,392,061 (GRCm39) missense probably benign 0.01
R4700:Lsg1 UTSW 16 30,384,267 (GRCm39) missense probably damaging 0.99
R4750:Lsg1 UTSW 16 30,384,267 (GRCm39) missense probably damaging 0.99
R5114:Lsg1 UTSW 16 30,380,538 (GRCm39) missense probably damaging 1.00
R5580:Lsg1 UTSW 16 30,387,985 (GRCm39) missense probably null 0.91
R5589:Lsg1 UTSW 16 30,399,819 (GRCm39) missense probably damaging 1.00
R5719:Lsg1 UTSW 16 30,380,593 (GRCm39) missense probably benign 0.00
R5721:Lsg1 UTSW 16 30,380,593 (GRCm39) missense probably benign 0.00
R6377:Lsg1 UTSW 16 30,393,386 (GRCm39) missense possibly damaging 0.95
R6899:Lsg1 UTSW 16 30,400,906 (GRCm39) missense probably benign
R7469:Lsg1 UTSW 16 30,380,635 (GRCm39) missense probably benign 0.08
R7530:Lsg1 UTSW 16 30,401,419 (GRCm39) missense possibly damaging 0.65
R7737:Lsg1 UTSW 16 30,400,003 (GRCm39) splice site probably null
R7869:Lsg1 UTSW 16 30,383,540 (GRCm39) missense probably benign 0.00
R8198:Lsg1 UTSW 16 30,383,594 (GRCm39) missense probably benign
R8439:Lsg1 UTSW 16 30,380,569 (GRCm39) missense probably damaging 1.00
R8466:Lsg1 UTSW 16 30,400,919 (GRCm39) missense probably benign 0.00
R8735:Lsg1 UTSW 16 30,399,865 (GRCm39) critical splice acceptor site probably null
X0065:Lsg1 UTSW 16 30,390,276 (GRCm39) missense probably benign
Z1177:Lsg1 UTSW 16 30,392,107 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07