Incidental Mutation 'R6958:Xpo1'
ID |
541590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo1
|
Ensembl Gene |
ENSMUSG00000020290 |
Gene Name |
exportin 1 |
Synonyms |
Crm1 |
MMRRC Submission |
045009-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6958 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23235855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 648
(T648A)
|
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: T648A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020538 Gene: ENSMUSG00000020290 AA Change: T648A
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: T648A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099933 Gene: ENSMUSG00000020290 AA Change: T648A
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: T648A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099934 Gene: ENSMUSG00000020290 AA Change: T648A
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: T648A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105178 Gene: ENSMUSG00000020290 AA Change: T648A
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: 99.2%
- 20x: 96.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
G |
3: 145,649,558 (GRCm39) |
D159G |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,579 (GRCm39) |
N4621S |
possibly damaging |
Het |
Ankrd16 |
C |
T |
2: 11,784,604 (GRCm39) |
A144V |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,046 (GRCm39) |
E190K |
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,176 (GRCm39) |
V2A |
probably damaging |
Het |
Ccdc187 |
C |
T |
2: 26,179,731 (GRCm39) |
V243I |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,132,525 (GRCm39) |
I985F |
unknown |
Het |
Cfap65 |
T |
C |
1: 74,971,058 (GRCm39) |
T87A |
possibly damaging |
Het |
Cilp2 |
G |
A |
8: 70,335,190 (GRCm39) |
P603S |
probably benign |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Cpa6 |
C |
T |
1: 10,665,913 (GRCm39) |
V42M |
probably damaging |
Het |
Cpsf4 |
A |
G |
5: 145,112,402 (GRCm39) |
I115V |
probably benign |
Het |
Dnah11 |
G |
T |
12: 117,897,544 (GRCm39) |
P3562Q |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,967,167 (GRCm39) |
F1664L |
probably damaging |
Het |
Dpysl3 |
T |
C |
18: 43,571,067 (GRCm39) |
Q69R |
probably benign |
Het |
Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,869,667 (GRCm39) |
C785S |
probably benign |
Het |
Elk4 |
T |
A |
1: 131,945,570 (GRCm39) |
F149L |
probably damaging |
Het |
Fgf14 |
A |
G |
14: 124,914,009 (GRCm39) |
W41R |
probably benign |
Het |
Fmnl1 |
T |
A |
11: 103,062,140 (GRCm39) |
M1K |
probably null |
Het |
Foxk2 |
A |
T |
11: 121,190,563 (GRCm39) |
Q568L |
probably benign |
Het |
Fryl |
T |
G |
5: 73,231,272 (GRCm39) |
I1602L |
possibly damaging |
Het |
Gfm2 |
A |
G |
13: 97,282,744 (GRCm39) |
I75V |
probably damaging |
Het |
Gm3233 |
T |
A |
10: 77,595,369 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
G |
T |
4: 155,627,651 (GRCm39) |
|
probably null |
Het |
Gphn |
G |
T |
12: 78,727,073 (GRCm39) |
V662L |
possibly damaging |
Het |
Il3 |
A |
C |
11: 54,157,937 (GRCm39) |
V47G |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,020,673 (GRCm39) |
D401G |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
Krtap6-2 |
A |
G |
16: 89,216,698 (GRCm39) |
S90P |
unknown |
Het |
Lars1 |
C |
T |
18: 42,369,704 (GRCm39) |
V394I |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrp10 |
A |
G |
14: 54,707,278 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
Lzts2 |
G |
T |
19: 45,012,582 (GRCm39) |
|
probably benign |
Het |
Msantd2 |
A |
G |
9: 37,434,753 (GRCm39) |
E331G |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,394,451 (GRCm39) |
G1218S |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nhp2 |
A |
G |
11: 51,513,934 (GRCm39) |
T118A |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,176,638 (GRCm39) |
Y972C |
probably damaging |
Het |
Nxpe2 |
A |
T |
9: 48,237,566 (GRCm39) |
C230S |
probably damaging |
Het |
Or12d13 |
T |
C |
17: 37,647,308 (GRCm39) |
I272V |
probably benign |
Het |
Or51g2 |
A |
G |
7: 102,623,091 (GRCm39) |
L36P |
possibly damaging |
Het |
Or5w8 |
T |
C |
2: 87,688,295 (GRCm39) |
Y259H |
probably damaging |
Het |
Pfkfb4 |
A |
T |
9: 108,839,615 (GRCm39) |
N244I |
probably damaging |
Het |
Pi4ka |
C |
T |
16: 17,143,091 (GRCm39) |
R24Q |
probably damaging |
Het |
Pkd2l2 |
C |
A |
18: 34,542,543 (GRCm39) |
Y8* |
probably null |
Het |
Pramel20 |
A |
T |
4: 143,297,829 (GRCm39) |
D83V |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,113,153 (GRCm39) |
N44K |
probably benign |
Het |
Sds |
G |
A |
5: 120,619,537 (GRCm39) |
V149M |
probably damaging |
Het |
Slc22a30 |
A |
G |
19: 8,364,065 (GRCm39) |
F204L |
probably damaging |
Het |
Slc26a7 |
C |
T |
4: 14,506,442 (GRCm39) |
A636T |
probably benign |
Het |
Slc27a1 |
C |
T |
8: 72,038,083 (GRCm39) |
A577V |
possibly damaging |
Het |
Spata13 |
A |
T |
14: 60,989,300 (GRCm39) |
T319S |
possibly damaging |
Het |
Styxl2 |
T |
A |
1: 165,935,565 (GRCm39) |
D211V |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,694,532 (GRCm39) |
D29G |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,060,899 (GRCm39) |
I110L |
probably benign |
Het |
Treml2 |
A |
G |
17: 48,615,180 (GRCm39) |
T222A |
probably damaging |
Het |
Trpd52l3 |
A |
T |
19: 29,981,546 (GRCm39) |
L100F |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,853,248 (GRCm39) |
E975K |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,404,144 (GRCm39) |
|
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,190,832 (GRCm39) |
V71I |
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 |
|
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 |
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'- TGAGTCCCCTCAGTGGTTCTTG -3'
(R):5'- ACTGAAAAGGGATTCCTGTTTGAAG -3'
Sequencing Primer
(F):5'- ATAGACGCACTATGCTTTGGAG -3'
(R):5'- GTGCTAAGACTGAAACTTAAACCTC -3'
|
Posted On |
2018-11-28 |