Incidental Mutation 'R9277:Xpo1'
| ID |
703383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23241550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 866
(I866V)
|
| 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: I866V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I866V
| 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: I866V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I866V
| 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: I866V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I866V
| 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: I866V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I866V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,347 (GRCm39) |
Y237C |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,561 (GRCm39) |
S566G |
probably benign |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,061,183 (GRCm39) |
I3222F |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,042,222 (GRCm39) |
D420G |
probably benign |
Het |
| Cela1 |
C |
A |
15: 100,580,894 (GRCm39) |
A121S |
possibly damaging |
Het |
| Clip2 |
A |
G |
5: 134,528,963 (GRCm39) |
M822T |
probably benign |
Het |
| Coq8a |
G |
A |
1: 180,006,776 (GRCm39) |
T84I |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,877,527 (GRCm39) |
A390V |
probably benign |
Het |
| Dhx40 |
C |
T |
11: 86,661,056 (GRCm39) |
M744I |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,689 (GRCm39) |
I204V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,750,855 (GRCm39) |
F322V |
probably damaging |
Het |
| Eif4g2 |
G |
A |
7: 110,674,066 (GRCm39) |
A646V |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,097 (GRCm39) |
T91A |
probably benign |
Het |
| Fancl |
A |
T |
11: 26,418,847 (GRCm39) |
I290F |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,245 (GRCm39) |
Y253N |
possibly damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,565 (GRCm39) |
R880L |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,417,402 (GRCm39) |
S2036T |
probably damaging |
Het |
| Gm10330 |
A |
T |
12: 23,829,911 (GRCm39) |
V90E |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,914,255 (GRCm39) |
E488G |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,148,446 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,539 (GRCm39) |
N265S |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,887,520 (GRCm39) |
V2515M |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,982 (GRCm39) |
L505P |
probably damaging |
Het |
| Klrg2 |
A |
G |
6: 38,613,491 (GRCm39) |
S171P |
probably benign |
Het |
| Lamtor5 |
A |
G |
3: 107,186,404 (GRCm39) |
T58A |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 134,915,217 (GRCm39) |
C787* |
probably null |
Het |
| Madd |
A |
G |
2: 91,006,055 (GRCm39) |
F380S |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,920,234 (GRCm39) |
H127Q |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,872 (GRCm39) |
E362G |
|
Het |
| Morc2b |
C |
T |
17: 33,354,997 (GRCm39) |
G925D |
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,518,523 (GRCm39) |
R1672H |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,493 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Obox5 |
A |
T |
7: 15,491,877 (GRCm39) |
E97D |
probably damaging |
Het |
| Parn |
C |
T |
16: 13,482,519 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
A |
T |
11: 97,613,272 (GRCm39) |
N241K |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,509 (GRCm39) |
V539A |
probably benign |
Het |
| Plpp7 |
A |
T |
2: 31,985,824 (GRCm39) |
M1L |
probably damaging |
Het |
| Pramel43 |
T |
C |
5: 94,762,843 (GRCm39) |
T60A |
probably benign |
Het |
| Pramel44 |
A |
G |
5: 94,771,917 (GRCm39) |
T16A |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,716,929 (GRCm39) |
S90N |
probably benign |
Het |
| Rgs7bp |
G |
A |
13: 105,100,618 (GRCm39) |
T219M |
probably damaging |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,998 (GRCm39) |
D69N |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,379,619 (GRCm39) |
T1145A |
probably damaging |
Het |
| Slc49a3 |
G |
T |
5: 108,589,864 (GRCm39) |
P513T |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,009,165 (GRCm39) |
Q359R |
probably benign |
Het |
| Trmt5 |
C |
A |
12: 73,329,448 (GRCm39) |
D237Y |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,390 (GRCm39) |
I261F |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,322 (GRCm39) |
I292F |
unknown |
Het |
| Vmn2r66 |
T |
C |
7: 84,661,164 (GRCm39) |
D22G |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,196,534 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
T |
A |
14: 79,714,353 (GRCm39) |
D53V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,254 (GRCm39) |
P975L |
unknown |
Het |
| Zdhhc19 |
G |
A |
16: 32,316,512 (GRCm39) |
R89Q |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,297 (GRCm39) |
T69I |
probably benign |
Het |
| Zfp827 |
C |
T |
8: 79,787,029 (GRCm39) |
T65I |
probably damaging |
Het |
| Zswim9 |
A |
G |
7: 12,994,983 (GRCm39) |
F391S |
probably damaging |
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 |
|
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 |
|
|
Z1176:Xpo1
|
UTSW |
11 |
23,246,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAAAATTTGGGCTTTCCTTTGG -3'
(R):5'- ACCAGATGCTAGAATGGCTCC -3'
Sequencing Primer
(F):5'- CCTTTGGGGGAAACTTTGAAG -3'
(R):5'- TCCCTGAAAACTAGATGCTCATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation