Incidental Mutation 'R0706:Xpo1'
| ID |
63138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
038889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0706 (G1)
|
| Quality Score |
169 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23256041-23298249 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23280441 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 276
(V276E)
|
| 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 benign
Transcript: ENSMUST00000020538
AA Change: V276E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: V276E
| 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 benign
Transcript: ENSMUST00000102869
AA Change: V276E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: V276E
| 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 benign
Transcript: ENSMUST00000102870
AA Change: V276E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: V276E
| 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 benign
Transcript: ENSMUST00000109551
AA Change: V276E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: V276E
| 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 |
probably benign
Transcript: ENSMUST00000150750
|
| SMART Domains |
Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.0%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef15 |
C |
T |
11: 68,954,576 |
R150H |
probably damaging |
Het |
| Btnl2 |
T |
A |
17: 34,368,662 |
N493K |
probably benign |
Het |
| Ccdc175 |
G |
A |
12: 72,139,948 |
T374I |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,702,923 |
S419G |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,892,486 |
T404A |
probably benign |
Het |
| Klk1b5 |
C |
T |
7: 44,218,514 |
P37S |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,499,710 |
R566W |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,261,980 |
N1597S |
probably damaging |
Het |
| Mrpl50 |
T |
C |
4: 49,514,198 |
S158G |
probably benign |
Het |
| Mycbpap |
G |
T |
11: 94,513,786 |
Y110* |
probably null |
Het |
| Nphp4 |
G |
A |
4: 152,555,617 |
A987T |
probably damaging |
Het |
| Reln |
C |
T |
5: 21,896,811 |
V3374I |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,899,560 |
T250A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,952,531 |
Q297R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,284,078 |
E120K |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,264,491 |
I602V |
probably damaging |
Het |
|
| Other mutations in Xpo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Xpo1
|
APN |
11 |
23285094 |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGACATCTGTGATGCAGAGCAAA -3'
(R):5'- catctctccagccccCCTATAGTTT -3'
Sequencing Primer
(F):5'- aagagggtgttgaatctcctg -3'
(R):5'- agccccCCTATAGTTTAATTTAAACC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation