Incidental Mutation 'R3611:Lsg1'
| ID |
269241 |
| 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: 0.949)
|
| Stock # |
R3611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30380187-30406430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30380613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 608
(V608A)
|
| 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: V608A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: V608A
| 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: ENSMUST00000150499
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,846,965 (GRCm39) |
T521M |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,974,427 (GRCm39) |
K345R |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,066,972 (GRCm39) |
W53R |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,585,147 (GRCm39) |
S896P |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,252,973 (GRCm39) |
S281P |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,116 (GRCm39) |
D601G |
probably damaging |
Het |
| Cntn3 |
C |
A |
6: 102,185,038 (GRCm39) |
V693L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,408 (GRCm39) |
V855A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,202,895 (GRCm39) |
M60V |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,085,591 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,734,752 (GRCm39) |
S268P |
probably benign |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,733,763 (GRCm39) |
|
probably benign |
Het |
| Macir |
T |
C |
1: 97,574,059 (GRCm39) |
E2G |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,120,632 (GRCm39) |
V501M |
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,013 (GRCm39) |
C65Y |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,867 (GRCm39) |
T186A |
probably benign |
Het |
| Rims4 |
T |
A |
2: 163,721,126 (GRCm39) |
I42F |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,705,197 (GRCm39) |
E700D |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,533 (GRCm39) |
V85A |
unknown |
Het |
| Srbd1 |
T |
C |
17: 86,410,355 (GRCm39) |
T526A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Ubtfl1 |
T |
C |
9: 18,320,661 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,268 (GRCm39) |
K270R |
possibly damaging |
Het |
| Zfp750 |
G |
A |
11: 121,402,981 (GRCm39) |
P589L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,159,848 (GRCm39) |
|
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 |
|
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 |
|
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'- CAAGACTTCTGGTGCGACTG -3'
(R):5'- TACTGTGAAGCCCAGCATG -3'
Sequencing Primer
(F):5'- TCCAGTCCACAGTGCAGTG -3'
(R):5'- CATGAGCTGGTAGGGGTGAGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation