Incidental Mutation 'R0742:Xpo1'
| ID |
70736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23256041-23298249 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23294682 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1020
(V1020A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000020538
AA Change: V1020A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: V1020A
| 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 |
possibly damaging
Transcript: ENSMUST00000102869
AA Change: V1020A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: V1020A
| 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 |
possibly damaging
Transcript: ENSMUST00000102870
AA Change: V1020A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: V1020A
| 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 |
possibly damaging
Transcript: ENSMUST00000109551
AA Change: V1020A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: V1020A
| 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 |
|
| Meta Mutation Damage Score |
0.9287 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,678,326 (GRCm38) |
D415E |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,627,108 (GRCm38) |
W12R |
probably damaging |
Het |
| Aldh3b2 |
G |
A |
19: 3,981,034 (GRCm38) |
G428S |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,536,845 (GRCm38) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 128,113,666 (GRCm38) |
E374* |
probably null |
Het |
| Casd1 |
T |
C |
6: 4,635,888 (GRCm38) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 117,055,246 (GRCm38) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,318,575 (GRCm38) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,863,613 (GRCm38) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,555,556 (GRCm38) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,634,816 (GRCm38) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,289,117 (GRCm38) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,190,980 (GRCm38) |
I533N |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,866,740 (GRCm38) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,621,297 (GRCm38) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,172,783 (GRCm38) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,715,141 (GRCm38) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,146,716 (GRCm38) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,381,259 (GRCm38) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,876,548 (GRCm38) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,556,081 (GRCm38) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,718,983 (GRCm38) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,241,583 (GRCm38) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,522,154 (GRCm38) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,332,467 (GRCm38) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,459,880 (GRCm38) |
C1408Y |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,585,530 (GRCm38) |
M99T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,527,893 (GRCm38) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,086,415 (GRCm38) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,361 (GRCm38) |
S2306G |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,029,112 (GRCm38) |
N870K |
probably benign |
Het |
|
| Other mutations in Xpo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Xpo1
|
APN |
11 |
23,285,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01464:Xpo1
|
APN |
11 |
23,267,703 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01561:Xpo1
|
APN |
11 |
23,282,706 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01630:Xpo1
|
APN |
11 |
23,285,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01700:Xpo1
|
APN |
11 |
23,276,422 (GRCm38) |
splice site |
probably benign |
|
|
IGL02000:Xpo1
|
APN |
11 |
23,296,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02299:Xpo1
|
APN |
11 |
23,293,915 (GRCm38) |
splice site |
probably benign |
|
|
IGL02313:Xpo1
|
APN |
11 |
23,277,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02828:Xpo1
|
APN |
11 |
23,282,593 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03210:Xpo1
|
APN |
11 |
23,278,834 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03329:Xpo1
|
APN |
11 |
23,284,306 (GRCm38) |
missense |
probably benign |
|
|
PIT1430001:Xpo1
|
UTSW |
11 |
23,276,437 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0507:Xpo1
|
UTSW |
11 |
23,294,682 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0594:Xpo1
|
UTSW |
11 |
23,280,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0706:Xpo1
|
UTSW |
11 |
23,280,441 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1385:Xpo1
|
UTSW |
11 |
23,261,863 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1478:Xpo1
|
UTSW |
11 |
23,291,623 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1483:Xpo1
|
UTSW |
11 |
23,284,863 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1694:Xpo1
|
UTSW |
11 |
23,281,399 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1775:Xpo1
|
UTSW |
11 |
23,271,193 (GRCm38) |
missense |
probably benign |
|
|
R1827:Xpo1
|
UTSW |
11 |
23,285,155 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2262:Xpo1
|
UTSW |
11 |
23,284,634 (GRCm38) |
splice site |
probably null |
|
|
R2263:Xpo1
|
UTSW |
11 |
23,284,634 (GRCm38) |
splice site |
probably null |
|
|
R4510:Xpo1
|
UTSW |
11 |
23,287,401 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4511:Xpo1
|
UTSW |
11 |
23,287,401 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4840:Xpo1
|
UTSW |
11 |
23,278,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4901:Xpo1
|
UTSW |
11 |
23,281,327 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5176:Xpo1
|
UTSW |
11 |
23,295,977 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5508:Xpo1
|
UTSW |
11 |
23,294,645 (GRCm38) |
missense |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23,268,656 (GRCm38) |
unclassified |
probably benign |
|
|
R5927:Xpo1
|
UTSW |
11 |
23,268,653 (GRCm38) |
unclassified |
probably benign |
|
|
R6110:Xpo1
|
UTSW |
11 |
23,287,434 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6421:Xpo1
|
UTSW |
11 |
23,291,490 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6591:Xpo1
|
UTSW |
11 |
23,286,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6691:Xpo1
|
UTSW |
11 |
23,286,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6698:Xpo1
|
UTSW |
11 |
23,294,040 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6958:Xpo1
|
UTSW |
11 |
23,285,855 (GRCm38) |
missense |
probably benign |
|
|
R7407:Xpo1
|
UTSW |
11 |
23,285,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7482:Xpo1
|
UTSW |
11 |
23,282,544 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7624:Xpo1
|
UTSW |
11 |
23,282,584 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8335:Xpo1
|
UTSW |
11 |
23,280,603 (GRCm38) |
splice site |
probably null |
|
|
R8823:Xpo1
|
UTSW |
11 |
23,267,752 (GRCm38) |
missense |
probably benign |
|
|
R9128:Xpo1
|
UTSW |
11 |
23,285,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9232:Xpo1
|
UTSW |
11 |
23,282,646 (GRCm38) |
missense |
probably benign |
|
|
R9277:Xpo1
|
UTSW |
11 |
23,291,550 (GRCm38) |
missense |
probably benign |
0.17 |
|
Z1176:Xpo1
|
UTSW |
11 |
23,296,080 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCGTAATGGACCCTAGATCACC -3'
(R):5'- GGAGGCCAATAGAATGCTTGCCTG -3'
Sequencing Primer
(F):5'- TTAGAGGCTGAGCCATCTGC -3'
(R):5'- GCTTGCCTGTTTAAAAAAAACACTTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation