Incidental Mutation 'R1478:Xpo1'
| ID |
165643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
039531-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1478 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23256041-23298249 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23291623 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 890
(A890V)
|
| 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: A890V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: A890V
| 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: A890V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: A890V
| 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: A890V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: A890V
| 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: A890V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: A890V
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931417E11Rik |
A |
T |
6: 73,469,056 (GRCm38) |
L170Q |
probably damaging |
Het |
| Aacs |
T |
A |
5: 125,503,223 (GRCm38) |
I204N |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,372,627 (GRCm38) |
T2025A |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,276,365 (GRCm38) |
R170C |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,891,959 (GRCm38) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,907,610 (GRCm38) |
Q17L |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,914,667 (GRCm38) |
T50A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 90,259,469 (GRCm38) |
D19G |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,517,769 (GRCm38) |
V494A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,739,507 (GRCm38) |
F663L |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,293,080 (GRCm38) |
E319V |
probably damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,471,856 (GRCm38) |
V679A |
probably damaging |
Het |
| Cntn6 |
C |
T |
6: 104,776,428 (GRCm38) |
T447I |
probably benign |
Het |
| Cyp3a11 |
G |
T |
5: 145,858,771 (GRCm38) |
L457I |
probably benign |
Het |
| Dera |
T |
A |
6: 137,830,195 (GRCm38) |
S214T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,404 (GRCm38) |
V501A |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,316,027 (GRCm38) |
V114A |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,790,910 (GRCm38) |
V722M |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,181,138 (GRCm38) |
N499S |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,346,657 (GRCm38) |
Y53* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,318,066 (GRCm38) |
T692A |
probably benign |
Het |
| Fam19a2 |
T |
A |
10: 123,593,496 (GRCm38) |
M5K |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,025,622 (GRCm38) |
N2545K |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,557,632 (GRCm38) |
|
probably null |
Het |
| Fscn3 |
A |
G |
6: 28,430,568 (GRCm38) |
M246V |
probably benign |
Het |
| Gde1 |
G |
T |
7: 118,691,784 (GRCm38) |
T106K |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,177,608 (GRCm38) |
I16T |
possibly damaging |
Het |
| Hacd4 |
A |
T |
4: 88,423,023 (GRCm38) |
M168K |
probably damaging |
Het |
| Hmx3 |
A |
G |
7: 131,544,097 (GRCm38) |
E178G |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,803,827 (GRCm38) |
Y266C |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,303,545 (GRCm38) |
R990S |
probably damaging |
Het |
| Krtap22-2 |
A |
T |
16: 89,010,646 (GRCm38) |
Y21* |
probably null |
Het |
| Lrrc41 |
T |
A |
4: 116,095,208 (GRCm38) |
L661* |
probably null |
Het |
| Lrrc63 |
T |
C |
14: 75,125,984 (GRCm38) |
T236A |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,272,892 (GRCm38) |
L84P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,292,725 (GRCm38) |
I754T |
probably benign |
Het |
| Neb |
A |
C |
2: 52,175,607 (GRCm38) |
D5961E |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,264,077 (GRCm38) |
H134R |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,226,847 (GRCm38) |
M542K |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,679,399 (GRCm38) |
|
probably benign |
Het |
| Olfr402 |
T |
A |
11: 74,155,137 (GRCm38) |
|
probably null |
Het |
| Olfr952 |
T |
A |
9: 39,426,592 (GRCm38) |
T160S |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,262,977 (GRCm38) |
|
probably null |
Het |
| Ppp6r1 |
A |
T |
7: 4,640,378 (GRCm38) |
|
probably null |
Het |
| Prss33 |
A |
G |
17: 23,835,098 (GRCm38) |
W45R |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,212,105 (GRCm38) |
Y980* |
probably null |
Het |
| Qrich1 |
T |
C |
9: 108,559,332 (GRCm38) |
V743A |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,783,333 (GRCm38) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,376,369 (GRCm38) |
N297K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,680,474 (GRCm38) |
H528R |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,326,102 (GRCm38) |
V241A |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,394,528 (GRCm38) |
V577E |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 23,815,902 (GRCm38) |
S507P |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,282,100 (GRCm38) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 114,096,684 (GRCm38) |
F545S |
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,848,026 (GRCm38) |
T107A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,048,167 (GRCm38) |
I41F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,852,073 (GRCm38) |
|
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 13,177,951 (GRCm38) |
D78A |
probably damaging |
Het |
| Wisp3 |
G |
A |
10: 39,153,243 (GRCm38) |
R230W |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,508,528 (GRCm38) |
D122N |
possibly damaging |
Het |
| Zfp493 |
A |
G |
13: 67,786,561 (GRCm38) |
H211R |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,629,190 (GRCm38) |
H405L |
probably damaging |
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 |
|
R0742:Xpo1
|
UTSW |
11 |
23,294,682 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1385:Xpo1
|
UTSW |
11 |
23,261,863 (GRCm38) |
missense |
probably damaging |
0.96 |
|
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'- AAACTGGCCTCAGACTTCAGCAGG -3'
(R):5'- TCCCTACCAGATGCTAGAATGGCTC -3'
Sequencing Primer
(F):5'- acaaagcatagtgacaggacag -3'
(R):5'- GATGCTAGAATGGCTCCATTTAAAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation