Incidental Mutation 'IGL02710:Lsg1'
| ID |
304531 |
| 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 # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
30380187-30406430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30390292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 274
(D274E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117363]
[ENSMUST00000123286]
[ENSMUST00000143170]
|
| AlphaFold |
Q3UM18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117363
AA Change: D274E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: D274E
| 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: ENSMUST00000124858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231238
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
probably benign |
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 |
|
IGL02647:Lsg1
|
APN |
16 |
30,404,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
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