Incidental Mutation 'R8335:Xpo1'
| ID |
656558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
067863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
| Type of Mutation |
splice site (101 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 23230603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000020538
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
| 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 null
Transcript: ENSMUST00000102869
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
| 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 null
Transcript: ENSMUST00000102870
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
| 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 null
Transcript: ENSMUST00000109551
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (33/34) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc47 |
C |
G |
11: 106,099,084 (GRCm39) |
E202D |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,099,085 (GRCm39) |
E202G |
probably damaging |
Het |
| Depdc1a |
C |
A |
3: 159,228,859 (GRCm39) |
P537Q |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,084,941 (GRCm39) |
M2816K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,481,628 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
A |
G |
14: 6,971,838 (GRCm38) |
M99T |
probably benign |
Het |
| Ighv1-67 |
A |
C |
12: 115,567,744 (GRCm39) |
V56G |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,766,130 (GRCm39) |
L218Q |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,584 (GRCm39) |
R494C |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,401 (GRCm39) |
R784W |
probably damaging |
Het |
| Mttp |
C |
T |
3: 137,808,973 (GRCm39) |
D697N |
possibly damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,543 (GRCm39) |
M427L |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,204 (GRCm39) |
I52V |
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,024 (GRCm39) |
N158D |
probably benign |
Het |
| Or4a67 |
G |
T |
2: 88,598,117 (GRCm39) |
P181T |
probably damaging |
Het |
| Or8k3b |
T |
A |
2: 86,520,512 (GRCm39) |
D269V |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,971,122 (GRCm39) |
H409R |
unknown |
Het |
| Pkp3 |
T |
C |
7: 140,667,669 (GRCm39) |
I490T |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,848 (GRCm39) |
V236L |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,189,245 (GRCm39) |
S46G |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,569 (GRCm39) |
|
probably null |
Het |
| Ptpn3 |
A |
T |
4: 57,235,286 (GRCm39) |
L358I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,052,096 (GRCm39) |
T758A |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,012,801 (GRCm39) |
R1212C |
probably benign |
Het |
| Sox6 |
G |
A |
7: 115,300,949 (GRCm39) |
L173F |
probably damaging |
Het |
| Spata20 |
T |
C |
11: 94,373,369 (GRCm39) |
K501E |
probably benign |
Het |
| Stat2 |
G |
A |
10: 128,112,452 (GRCm39) |
V31I |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,183 (GRCm39) |
N378Y |
probably damaging |
Het |
| Tacr2 |
A |
T |
10: 62,100,946 (GRCm39) |
H352L |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,029,466 (GRCm39) |
K230E |
possibly damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,352 (GRCm39) |
S238P |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,609 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,707,077 (GRCm39) |
I661M |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,977 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,445 (GRCm39) |
S814P |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,486,435 (GRCm39) |
L448P |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,726 (GRCm39) |
K423* |
probably null |
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 |
|
IGL03329:Xpo1
|
APN |
11 |
23,234,306 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCACTGAGATTGCTGGTG -3'
(R):5'- CACCATGGCTGATCTATAGTAGC -3'
Sequencing Primer
(F):5'- CTGGTGTGAGTGTAAGCCAATATGAG -3'
(R):5'- CCATGGCTGATCTATAGTAGCTATTC -3'
|
| Posted On |
2020-12-18 |
Incidental Mutation