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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |