Incidental Mutation 'R7482:Xpo1'
| ID |
579869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
045556-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23232544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 355
(L355V)
|
| 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: L355V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: L355V
| 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: L355V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: L355V
| 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: L355V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: L355V
| 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: L355V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: L355V
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
A |
13: 111,392,673 (GRCm39) |
R336H |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ap2a2 |
C |
T |
7: 141,182,210 (GRCm39) |
P180S |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,693,199 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
T |
10: 127,021,540 (GRCm39) |
M226K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,088,254 (GRCm39) |
D45G |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,990,728 (GRCm39) |
V1675F |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,938,963 (GRCm39) |
R820L |
possibly damaging |
Het |
| Cldn7 |
A |
G |
11: 69,856,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,435,926 (GRCm39) |
V615A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,460,194 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,156,032 (GRCm39) |
S798T |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,044,202 (GRCm39) |
M311K |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,501,941 (GRCm39) |
C4225S |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 54,079,629 (GRCm39) |
H8R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,033 (GRCm39) |
E490G |
probably benign |
Het |
| Jakmip3 |
T |
A |
7: 138,627,228 (GRCm39) |
C411S |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,933,405 (GRCm39) |
T339A |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,889,579 (GRCm39) |
|
probably null |
Het |
| Mlf1 |
T |
A |
3: 67,300,227 (GRCm39) |
H81Q |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,587,324 (GRCm39) |
Y652N |
|
Het |
| Myo9b |
A |
G |
8: 71,795,442 (GRCm39) |
S804G |
probably benign |
Het |
| Or8b1 |
T |
G |
9: 38,399,747 (GRCm39) |
C141G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,830,739 (GRCm39) |
I79T |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,317,760 (GRCm39) |
E1043G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,518 (GRCm39) |
V941A |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,943 (GRCm39) |
V71A |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,749,328 (GRCm39) |
A121T |
probably benign |
Het |
| Stx17 |
A |
G |
4: 48,181,722 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tas2r105 |
A |
T |
6: 131,663,972 (GRCm39) |
M152K |
probably benign |
Het |
| Tlr11 |
G |
T |
14: 50,600,456 (GRCm39) |
C814F |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,927 (GRCm39) |
V802A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,637 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,468 (GRCm39) |
K671E |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,220 (GRCm39) |
F246L |
probably damaging |
Het |
|
| Other mutations in Xpo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Xpo1
|
APN |
11 |
23,235,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01464:Xpo1
|
APN |
11 |
23,217,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01561:Xpo1
|
APN |
11 |
23,232,706 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01630:Xpo1
|
APN |
11 |
23,235,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01700:Xpo1
|
APN |
11 |
23,226,422 (GRCm39) |
splice site |
probably benign |
|
|
IGL02000:Xpo1
|
APN |
11 |
23,246,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Xpo1
|
APN |
11 |
23,243,915 (GRCm39) |
splice site |
probably benign |
|
|
IGL02313:Xpo1
|
APN |
11 |
23,227,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Xpo1
|
APN |
11 |
23,232,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03210:Xpo1
|
APN |
11 |
23,228,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03329:Xpo1
|
APN |
11 |
23,234,306 (GRCm39) |
missense |
probably benign |
|
|
PIT1430001:Xpo1
|
UTSW |
11 |
23,226,437 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0507:Xpo1
|
UTSW |
11 |
23,244,682 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0594:Xpo1
|
UTSW |
11 |
23,230,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0706:Xpo1
|
UTSW |
11 |
23,230,441 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0742:Xpo1
|
UTSW |
11 |
23,244,682 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1385:Xpo1
|
UTSW |
11 |
23,211,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1478:Xpo1
|
UTSW |
11 |
23,241,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1483:Xpo1
|
UTSW |
11 |
23,234,863 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1694:Xpo1
|
UTSW |
11 |
23,231,399 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1775:Xpo1
|
UTSW |
11 |
23,221,193 (GRCm39) |
missense |
probably benign |
|
|
R1827:Xpo1
|
UTSW |
11 |
23,235,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2262:Xpo1
|
UTSW |
11 |
23,234,634 (GRCm39) |
splice site |
probably null |
|
|
R2263:Xpo1
|
UTSW |
11 |
23,234,634 (GRCm39) |
splice site |
probably null |
|
|
R4510:Xpo1
|
UTSW |
11 |
23,237,401 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4511:Xpo1
|
UTSW |
11 |
23,237,401 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4840:Xpo1
|
UTSW |
11 |
23,228,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Xpo1
|
UTSW |
11 |
23,231,327 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5176:Xpo1
|
UTSW |
11 |
23,245,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5508:Xpo1
|
UTSW |
11 |
23,244,645 (GRCm39) |
missense |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23,218,656 (GRCm39) |
unclassified |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23,218,653 (GRCm39) |
unclassified |
probably benign |
|
|
R6110:Xpo1
|
UTSW |
11 |
23,237,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6421:Xpo1
|
UTSW |
11 |
23,241,490 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6591:Xpo1
|
UTSW |
11 |
23,236,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Xpo1
|
UTSW |
11 |
23,236,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Xpo1
|
UTSW |
11 |
23,244,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6958:Xpo1
|
UTSW |
11 |
23,235,855 (GRCm39) |
missense |
probably benign |
|
|
R7407:Xpo1
|
UTSW |
11 |
23,235,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7624:Xpo1
|
UTSW |
11 |
23,232,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8335:Xpo1
|
UTSW |
11 |
23,230,603 (GRCm39) |
splice site |
probably null |
|
|
R8823:Xpo1
|
UTSW |
11 |
23,217,752 (GRCm39) |
missense |
probably benign |
|
|
R9128:Xpo1
|
UTSW |
11 |
23,235,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Xpo1
|
UTSW |
11 |
23,232,646 (GRCm39) |
missense |
probably benign |
|
|
R9277:Xpo1
|
UTSW |
11 |
23,241,550 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Xpo1
|
UTSW |
11 |
23,246,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATATCTGCTGCCCGTTTTCAG -3'
(R):5'- GTCAAGTACAGCTGTCTCCTAGG -3'
Sequencing Primer
(F):5'- TAAGAGATCCACCTGGCTCTTGG -3'
(R):5'- GGAGGAATATCAAAGTGTTGACTTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation