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 |
Incidental Mutation