Incidental Mutation 'IGL02647:Lsg1'
| ID |
302006 |
| 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: 0.949)
|
| Stock # |
IGL02647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30380187-30406430 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 30404370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117363]
[ENSMUST00000123286]
[ENSMUST00000143170]
|
| AlphaFold |
Q3UM18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000117363
|
| SMART Domains |
Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
| Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
| Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
| Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
| Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
| Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
| Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
| Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
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 |
|
IGL02023:Lsg1
|
APN |
16 |
30,404,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Lsg1
|
APN |
16 |
30,390,060 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
2015-04-16 |
Incidental Mutation