Incidental Mutation 'R2445:Lsg1'
| ID |
250561 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2445 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30380187-30406430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30383513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 569
(R569L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117363]
[ENSMUST00000143170]
|
| AlphaFold |
Q3UM18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117363
AA Change: R569L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: R569L
| 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: ENSMUST00000124858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150499
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930562C15Rik |
T |
A |
16: 4,682,261 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
G |
T |
6: 34,287,869 (GRCm39) |
D163E |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,041,019 (GRCm39) |
D147G |
probably benign |
Het |
| F5 |
T |
C |
1: 164,017,795 (GRCm39) |
F624S |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,586,496 (GRCm39) |
T152A |
probably benign |
Het |
| Ifna13 |
A |
T |
4: 88,562,133 (GRCm39) |
W164R |
probably damaging |
Het |
| Mmp27 |
T |
C |
9: 7,581,182 (GRCm39) |
S456P |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,437,176 (GRCm39) |
V449A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10ag60 |
T |
C |
2: 87,438,302 (GRCm39) |
I190T |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,216,700 (GRCm39) |
P1052Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,442,655 (GRCm39) |
H1567R |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,772,302 (GRCm39) |
I280K |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,814,871 (GRCm39) |
C15* |
probably null |
Het |
| Tnrc18 |
T |
A |
5: 142,757,870 (GRCm39) |
I884F |
unknown |
Het |
| Trav6d-3 |
G |
A |
14: 52,964,285 (GRCm39) |
A83T |
probably damaging |
Het |
| Zgpat |
C |
A |
2: 181,007,953 (GRCm39) |
C163* |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGAGGCACAAAGTAAGAC -3'
(R):5'- AGGACCTTTGCCCTCCTG -3'
Sequencing Primer
(F):5'- CCTAGATCTAAGTCATGGGGTCAC -3'
(R):5'- TGGGGTGACACAGGTACAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation