Incidental Mutation 'IGL00841:Xpo1'
| ID |
14885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
23256041-23298249 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23285094 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 588
(F588V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020538]
[ENSMUST00000102869]
[ENSMUST00000102870]
[ENSMUST00000109551]
|
| AlphaFold |
Q6P5F9 |
| PDB Structure |
Crystal Structure of the Nuclear Export Complex CRM1-Snurportin1-RanGTP [X-RAY DIFFRACTION]
Crystal structure of the PKI NES-CRM1-RanGTP nuclear export complex [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal I) [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal II) [X-RAY DIFFRACTION]
Crystal structure of the CRM1-RanGTP complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020538
AA Change: F588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: F588V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
46 |
112 |
2.3e-10 |
SMART |
|
Pfam:Xpo1
|
123 |
268 |
1.3e-44 |
PFAM |
|
Blast:IL1
|
407 |
518 |
9e-14 |
BLAST |
|
Blast:CRM1_C
|
590 |
699 |
1e-22 |
BLAST |
|
CRM1_C
|
709 |
1027 |
4.63e-211 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102869
AA Change: F588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: F588V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
46 |
112 |
2.3e-10 |
SMART |
|
Pfam:Xpo1
|
123 |
268 |
7.4e-44 |
PFAM |
|
Blast:IL1
|
407 |
518 |
9e-14 |
BLAST |
|
Blast:CRM1_C
|
590 |
699 |
1e-22 |
BLAST |
|
CRM1_C
|
709 |
1027 |
4.63e-211 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102870
AA Change: F588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: F588V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
46 |
112 |
2.3e-10 |
SMART |
|
Pfam:Xpo1
|
123 |
268 |
1.3e-44 |
PFAM |
|
Blast:IL1
|
407 |
518 |
9e-14 |
BLAST |
|
Blast:CRM1_C
|
590 |
699 |
1e-22 |
BLAST |
|
CRM1_C
|
709 |
1027 |
4.63e-211 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109551
AA Change: F588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: F588V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
46 |
112 |
2.3e-10 |
SMART |
|
Pfam:Xpo1
|
123 |
268 |
1.3e-44 |
PFAM |
|
Blast:IL1
|
407 |
518 |
9e-14 |
BLAST |
|
Blast:CRM1_C
|
590 |
699 |
1e-22 |
BLAST |
|
CRM1_C
|
709 |
1027 |
4.63e-211 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149371
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150750
AA Change: F94V
|
| SMART Domains |
Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290
AA Change: F94V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CRM1_C
|
97 |
136 |
3e-8 |
BLAST |
|
Pfam:CRM1_C
|
171 |
233 |
4.3e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1b |
T |
C |
13: 96,417,830 |
|
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,135,969 |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,383,769 |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,039,536 |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 93,302,987 |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,362,309 |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 142,382,681 |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,546,114 |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,819,877 |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,422,724 |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,365,321 |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,507,976 |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,876,902 |
V299A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,331,303 |
I292V |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 35,590,886 |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,063,116 |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,144,873 |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,529,995 |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,487 |
S40R |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,642,727 |
K71M |
probably damaging |
Het |
| Vegfb |
A |
G |
19: 6,986,478 |
W38R |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,537,868 |
L479M |
probably damaging |
Het |
|
| Other mutations in Xpo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Xpo1
|
APN |
11 |
23267703 |
missense |
probably damaging |
0.97 |
|
IGL01561:Xpo1
|
APN |
11 |
23282706 |
missense |
possibly damaging |
0.76 |
|
IGL01630:Xpo1
|
APN |
11 |
23285846 |
missense |
probably benign |
0.00 |
|
IGL01700:Xpo1
|
APN |
11 |
23276422 |
splice site |
probably benign |
|
|
IGL02000:Xpo1
|
APN |
11 |
23296003 |
missense |
probably damaging |
1.00 |
|
IGL02299:Xpo1
|
APN |
11 |
23293915 |
splice site |
probably benign |
|
|
IGL02313:Xpo1
|
APN |
11 |
23277065 |
missense |
probably damaging |
1.00 |
|
IGL02828:Xpo1
|
APN |
11 |
23282593 |
missense |
probably damaging |
0.97 |
|
IGL03210:Xpo1
|
APN |
11 |
23278834 |
missense |
probably benign |
0.01 |
|
IGL03329:Xpo1
|
APN |
11 |
23284306 |
missense |
probably benign |
|
|
PIT1430001:Xpo1
|
UTSW |
11 |
23276437 |
missense |
possibly damaging |
0.66 |
|
R0507:Xpo1
|
UTSW |
11 |
23294682 |
missense |
possibly damaging |
0.61 |
|
R0594:Xpo1
|
UTSW |
11 |
23280402 |
missense |
probably damaging |
1.00 |
|
R0706:Xpo1
|
UTSW |
11 |
23280441 |
missense |
probably benign |
0.09 |
|
R0742:Xpo1
|
UTSW |
11 |
23294682 |
missense |
possibly damaging |
0.61 |
|
R1385:Xpo1
|
UTSW |
11 |
23261863 |
missense |
probably damaging |
0.96 |
|
R1478:Xpo1
|
UTSW |
11 |
23291623 |
missense |
probably damaging |
0.99 |
|
R1483:Xpo1
|
UTSW |
11 |
23284863 |
missense |
probably benign |
0.04 |
|
R1694:Xpo1
|
UTSW |
11 |
23281399 |
missense |
probably benign |
0.12 |
|
R1775:Xpo1
|
UTSW |
11 |
23271193 |
missense |
probably benign |
|
|
R1827:Xpo1
|
UTSW |
11 |
23285155 |
missense |
probably benign |
0.00 |
|
R2262:Xpo1
|
UTSW |
11 |
23284634 |
splice site |
probably null |
|
|
R2263:Xpo1
|
UTSW |
11 |
23284634 |
splice site |
probably null |
|
|
R4510:Xpo1
|
UTSW |
11 |
23287401 |
missense |
possibly damaging |
0.60 |
|
R4511:Xpo1
|
UTSW |
11 |
23287401 |
missense |
possibly damaging |
0.60 |
|
R4840:Xpo1
|
UTSW |
11 |
23278183 |
missense |
probably damaging |
1.00 |
|
R4901:Xpo1
|
UTSW |
11 |
23281327 |
missense |
possibly damaging |
0.62 |
|
R5176:Xpo1
|
UTSW |
11 |
23295977 |
missense |
probably damaging |
0.99 |
|
R5508:Xpo1
|
UTSW |
11 |
23294645 |
missense |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23268653 |
unclassified |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23268656 |
unclassified |
probably benign |
|
|
R6110:Xpo1
|
UTSW |
11 |
23287434 |
missense |
probably damaging |
0.99 |
|
R6421:Xpo1
|
UTSW |
11 |
23291490 |
missense |
possibly damaging |
0.60 |
|
R6591:Xpo1
|
UTSW |
11 |
23286875 |
missense |
probably damaging |
1.00 |
|
R6691:Xpo1
|
UTSW |
11 |
23286875 |
missense |
probably damaging |
1.00 |
|
R6698:Xpo1
|
UTSW |
11 |
23294040 |
missense |
probably benign |
0.01 |
|
R6958:Xpo1
|
UTSW |
11 |
23285855 |
missense |
probably benign |
|
|
R7407:Xpo1
|
UTSW |
11 |
23285823 |
missense |
probably damaging |
1.00 |
|
R7482:Xpo1
|
UTSW |
11 |
23282544 |
missense |
probably benign |
0.00 |
|
R7624:Xpo1
|
UTSW |
11 |
23282584 |
missense |
probably damaging |
0.99 |
|
R8335:Xpo1
|
UTSW |
11 |
23280603 |
splice site |
probably null |
|
|
R8823:Xpo1
|
UTSW |
11 |
23267752 |
missense |
probably benign |
|
|
R9128:Xpo1
|
UTSW |
11 |
23285058 |
missense |
probably damaging |
1.00 |
|
R9232:Xpo1
|
UTSW |
11 |
23282646 |
missense |
probably benign |
|
|
R9277:Xpo1
|
UTSW |
11 |
23291550 |
missense |
probably benign |
0.17 |
|
Z1176:Xpo1
|
UTSW |
11 |
23296080 |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation