Incidental Mutation 'R6110:Xpo1'
| ID |
484797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
044428-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6110 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23237434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 766
(S766P)
|
| 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 damaging
Transcript: ENSMUST00000020538
AA Change: S766P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: S766P
| 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: ENSMUST00000102869
AA Change: S766P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: S766P
| 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 damaging
Transcript: ENSMUST00000102870
AA Change: S766P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: S766P
| 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: ENSMUST00000109551
AA Change: S766P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: S766P
| 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 |
unknown
Transcript: ENSMUST00000150750
AA Change: S227P
|
| SMART Domains |
Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290
AA Change: S227P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CRM1_C
|
97 |
136 |
3e-8 |
BLAST |
|
Pfam:CRM1_C
|
171 |
233 |
4.3e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.7614 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
T |
C |
4: 56,740,224 (GRCm39) |
E378G |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
| Alkal2 |
G |
A |
12: 30,937,057 (GRCm39) |
R90Q |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,355,549 (GRCm39) |
V309M |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,883 (GRCm39) |
L3455P |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,436 (GRCm39) |
H1438Q |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,003,996 (GRCm39) |
S757P |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,090,283 (GRCm39) |
F462Y |
probably damaging |
Het |
| C4bp |
T |
A |
1: 130,566,809 (GRCm39) |
K177* |
probably null |
Het |
| Cacna1h |
G |
T |
17: 25,610,250 (GRCm39) |
P752Q |
probably benign |
Het |
| Cd34 |
G |
A |
1: 194,631,877 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
G |
T |
7: 140,428,554 (GRCm39) |
R73L |
possibly damaging |
Het |
| Clptm1 |
G |
A |
7: 19,367,731 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,673,802 (GRCm39) |
S1081P |
probably damaging |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,763,835 (GRCm39) |
M1166L |
possibly damaging |
Het |
| Fam151a |
G |
A |
4: 106,605,395 (GRCm39) |
V586M |
probably damaging |
Het |
| Fap |
T |
G |
2: 62,385,114 (GRCm39) |
Y54S |
possibly damaging |
Het |
| Grhl1 |
A |
G |
12: 24,630,746 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,064 (GRCm39) |
Y91C |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Kat6b |
C |
T |
14: 21,720,555 (GRCm39) |
R1745C |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,267 (GRCm39) |
L898P |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,317 (GRCm39) |
Q84R |
unknown |
Het |
| Mfn1 |
G |
A |
3: 32,617,173 (GRCm39) |
M18I |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,354,586 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
C |
G |
13: 69,775,767 (GRCm39) |
Q404E |
probably benign |
Het |
| Or1j17 |
T |
C |
2: 36,578,559 (GRCm39) |
S182P |
probably benign |
Het |
| Or2at4 |
C |
T |
7: 99,384,377 (GRCm39) |
S9L |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,779 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Or5j3 |
T |
A |
2: 86,129,019 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5p70 |
G |
T |
7: 107,995,035 (GRCm39) |
S236I |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,773,996 (GRCm39) |
I90V |
possibly damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,442 (GRCm39) |
S48T |
possibly damaging |
Het |
| Pax2 |
T |
A |
19: 44,779,175 (GRCm39) |
S183T |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,509 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,482 (GRCm39) |
V264A |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,606,279 (GRCm39) |
N1199K |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,385,297 (GRCm39) |
S6P |
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,630,969 (GRCm39) |
Y502H |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,914,085 (GRCm39) |
I91T |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,030,302 (GRCm39) |
I247S |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,395,731 (GRCm39) |
L594P |
probably damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,208,588 (GRCm39) |
M311K |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,024,589 (GRCm39) |
I588T |
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,643,304 (GRCm39) |
V655A |
probably damaging |
Het |
| Uba7 |
T |
A |
9: 107,856,138 (GRCm39) |
D504E |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,215,477 (GRCm39) |
E117G |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,005 (GRCm39) |
I296K |
probably damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,017,837 (GRCm39) |
C521S |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,949,958 (GRCm39) |
|
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,953,486 (GRCm39) |
N165S |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCCCAAAGCTGTGTGTTG -3'
(R):5'- ACCTTTGGACATATCTATAGCCCC -3'
Sequencing Primer
(F):5'- AGGTACAGCTTTTTAAATGGTCAGTG -3'
(R):5'- TGGACATATCTATAGCCCCAAATAAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation