Incidental Mutation 'IGL01464:Xpo1'
| ID |
88050 |
| 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 # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
23256041-23298249 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23267703 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 56
(H56Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020538]
[ENSMUST00000102869]
[ENSMUST00000102870]
[ENSMUST00000109551]
[ENSMUST00000136235]
|
| AlphaFold |
Q6P5F9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020538
AA Change: H56Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: H56Q
| 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: H56Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: H56Q
| 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: H56Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: H56Q
| 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: H56Q
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: H56Q
| 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: ENSMUST00000136235
AA Change: H56Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123634
Gene: ENSMUSG00000020290
AA Change: H56Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BSN|A
|
1 |
59 |
4e-35 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149371
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,546,587 (GRCm38) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,869,822 (GRCm38) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,415,972 (GRCm38) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,395,890 (GRCm38) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,190,366 (GRCm38) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm38) |
|
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,620,953 (GRCm38) |
S51G |
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,800,320 (GRCm38) |
G181D |
probably damaging |
Het |
| Elmod2 |
G |
A |
8: 83,316,792 (GRCm38) |
|
probably benign |
Het |
| Ephx3 |
A |
G |
17: 32,188,245 (GRCm38) |
S240P |
probably damaging |
Het |
| Gm6583 |
A |
G |
5: 112,355,533 (GRCm38) |
S102P |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,714,826 (GRCm38) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,386,727 (GRCm38) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,352,244 (GRCm38) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,472,439 (GRCm38) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,432,743 (GRCm38) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,100,784 (GRCm38) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 20,062,655 (GRCm38) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 117,943,192 (GRCm38) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm38) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,470,681 (GRCm38) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,641 (GRCm38) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,600,908 (GRCm38) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 108,052,302 (GRCm38) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,260,861 (GRCm38) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,401,632 (GRCm38) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,107,602 (GRCm38) |
N486S |
probably null |
Het |
| Zbtb44 |
T |
A |
9: 31,054,284 (GRCm38) |
L330H |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation