Incidental Mutation 'IGL03329:Xpo1'
ID |
416807 |
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 # |
IGL03329
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23234306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 437
(Q437R)
|
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: Q437R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020538 Gene: ENSMUSG00000020290 AA Change: Q437R
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: Q437R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099933 Gene: ENSMUSG00000020290 AA Change: Q437R
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: Q437R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099934 Gene: ENSMUSG00000020290 AA Change: Q437R
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: Q437R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105178 Gene: ENSMUSG00000020290 AA Change: Q437R
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,047 (GRCm39) |
D2598G |
probably benign |
Het |
Abcf2 |
T |
G |
5: 24,776,246 (GRCm39) |
|
probably null |
Het |
Acsl1 |
T |
A |
8: 46,946,031 (GRCm39) |
C55S |
possibly damaging |
Het |
Adam22 |
T |
A |
5: 8,199,210 (GRCm39) |
M249L |
possibly damaging |
Het |
Alk |
A |
G |
17: 72,206,159 (GRCm39) |
|
probably benign |
Het |
Ambn |
T |
G |
5: 88,609,527 (GRCm39) |
S78R |
probably benign |
Het |
Apbb1ip |
T |
A |
2: 22,757,729 (GRCm39) |
V449D |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,152,883 (GRCm39) |
Y194* |
probably null |
Het |
Cacul1 |
A |
T |
19: 60,531,489 (GRCm39) |
F260Y |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,181,081 (GRCm39) |
I2640T |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,841,108 (GRCm39) |
S1446P |
probably damaging |
Het |
Cimap2 |
G |
T |
4: 106,464,601 (GRCm39) |
R353S |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,530,902 (GRCm39) |
T276I |
probably damaging |
Het |
Dcbld1 |
T |
G |
10: 52,195,721 (GRCm39) |
Y310D |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,696,113 (GRCm39) |
V157I |
probably damaging |
Het |
Dennd5b |
G |
T |
6: 148,899,758 (GRCm39) |
T1213K |
possibly damaging |
Het |
Dusp8 |
A |
T |
7: 141,638,097 (GRCm39) |
L177* |
probably null |
Het |
Erbb4 |
T |
C |
1: 68,367,281 (GRCm39) |
S479G |
probably benign |
Het |
Gpbp1 |
T |
A |
13: 111,589,787 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,608,661 (GRCm39) |
Q1507L |
probably damaging |
Het |
Inppl1 |
G |
T |
7: 101,473,587 (GRCm39) |
T1021K |
possibly damaging |
Het |
Klk1b9 |
A |
G |
7: 43,628,838 (GRCm39) |
E114G |
probably benign |
Het |
Klre1 |
T |
C |
6: 129,562,660 (GRCm39) |
|
probably benign |
Het |
Lancl1 |
T |
C |
1: 67,060,209 (GRCm39) |
Y72C |
probably damaging |
Het |
Lilra6 |
A |
G |
7: 3,917,647 (GRCm39) |
|
probably benign |
Het |
Magi2 |
T |
C |
5: 20,671,126 (GRCm39) |
V490A |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 70,084,803 (GRCm39) |
N720K |
probably damaging |
Het |
Or2ah1 |
A |
C |
2: 85,653,729 (GRCm39) |
D138A |
probably benign |
Het |
Or7e166 |
T |
C |
9: 19,624,597 (GRCm39) |
V158A |
probably benign |
Het |
Ppp2r3d |
T |
A |
9: 101,003,630 (GRCm39) |
|
probably benign |
Het |
Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,594,973 (GRCm39) |
D1941N |
probably benign |
Het |
Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
Sh3bp2 |
T |
C |
5: 34,716,546 (GRCm39) |
V319A |
probably benign |
Het |
Slc12a3 |
A |
C |
8: 95,092,519 (GRCm39) |
Q980P |
possibly damaging |
Het |
Slc39a8 |
G |
T |
3: 135,590,474 (GRCm39) |
G389V |
probably damaging |
Het |
Slc5a3 |
T |
C |
16: 91,874,348 (GRCm39) |
I135T |
probably damaging |
Het |
Smu1 |
A |
G |
4: 40,739,568 (GRCm39) |
V414A |
possibly damaging |
Het |
Tlr12 |
A |
G |
4: 128,510,645 (GRCm39) |
F535S |
possibly damaging |
Het |
Trim47 |
A |
G |
11: 115,997,254 (GRCm39) |
V501A |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,603 (GRCm39) |
N6K |
probably damaging |
Het |
Vwce |
G |
A |
19: 10,637,360 (GRCm39) |
C711Y |
possibly damaging |
Het |
Wdr25 |
C |
T |
12: 108,864,262 (GRCm39) |
L136F |
probably benign |
Het |
Zfp169 |
C |
A |
13: 48,644,270 (GRCm39) |
|
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,403,295 (GRCm39) |
I584F |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,808,099 (GRCm39) |
|
probably benign |
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 |
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 |
R7482:Xpo1
|
UTSW |
11 |
23,232,544 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2016-08-02 |