Incidental Mutation 'R1483:Xpo1'
| ID |
165716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
039536-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1483 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23234863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 540
(I540V)
|
| 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: I540V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I540V
| 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: I540V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I540V
| 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: I540V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I540V
| 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: I540V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I540V
| 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 |
probably benign
Transcript: ENSMUST00000150750
AA Change: I46V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290
AA Change: I46V
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,531,754 (GRCm39) |
T494S |
probably benign |
Het |
| Akap6 |
C |
T |
12: 52,842,870 (GRCm39) |
P73S |
probably damaging |
Het |
| Amotl2 |
A |
T |
9: 102,608,096 (GRCm39) |
T763S |
probably benign |
Het |
| Brd10 |
G |
A |
19: 29,696,745 (GRCm39) |
P916L |
possibly damaging |
Het |
| Cdc5l |
A |
T |
17: 45,719,290 (GRCm39) |
V541D |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,624,248 (GRCm39) |
Y52C |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,931,733 (GRCm39) |
E255G |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,155 (GRCm39) |
S126P |
probably benign |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,279,715 (GRCm39) |
I427V |
probably benign |
Het |
| Drg2 |
T |
C |
11: 60,350,353 (GRCm39) |
I104T |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,292,079 (GRCm39) |
A932V |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,757,164 (GRCm39) |
D880E |
unknown |
Het |
| Elf1 |
T |
A |
14: 79,818,078 (GRCm39) |
D569E |
probably benign |
Het |
| Esp6 |
T |
A |
17: 40,873,816 (GRCm39) |
M1K |
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,509,819 (GRCm39) |
V1427A |
possibly damaging |
Het |
| Gsta1 |
A |
T |
9: 78,149,775 (GRCm39) |
K196M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,169 (GRCm39) |
I110F |
probably damaging |
Het |
| H2-DMa |
T |
A |
17: 34,354,724 (GRCm39) |
V27E |
possibly damaging |
Het |
| H2-T10 |
A |
T |
17: 36,432,038 (GRCm39) |
S2T |
probably benign |
Het |
| Hadhb |
A |
G |
5: 30,374,492 (GRCm39) |
|
probably null |
Het |
| Hoxa11 |
G |
T |
6: 52,220,436 (GRCm39) |
D282E |
probably damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,041 (GRCm39) |
Y139H |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,049,436 (GRCm39) |
V88A |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,452,273 (GRCm39) |
A149T |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,404,770 (GRCm39) |
K597I |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,738,934 (GRCm39) |
I284N |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,308,937 (GRCm39) |
I98K |
probably damaging |
Het |
| Mst1 |
G |
T |
9: 107,958,849 (GRCm39) |
G127V |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,552,217 (GRCm39) |
S325P |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,910,211 (GRCm39) |
P1328L |
probably benign |
Het |
| Nek5 |
C |
T |
8: 22,586,806 (GRCm39) |
S335N |
probably benign |
Het |
| Nif3l1 |
C |
A |
1: 58,486,885 (GRCm39) |
R24S |
probably benign |
Het |
| Nlrp14 |
T |
G |
7: 106,789,329 (GRCm39) |
N39K |
possibly damaging |
Het |
| Nup50 |
T |
A |
15: 84,823,928 (GRCm39) |
V427D |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,383,714 (GRCm39) |
P78L |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,114 (GRCm39) |
Y61* |
probably null |
Het |
| Pate8 |
G |
A |
9: 36,492,620 (GRCm39) |
S95L |
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,388,550 (GRCm39) |
Y242C |
probably benign |
Het |
| Ppm1g |
T |
C |
5: 31,360,465 (GRCm39) |
D423G |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,547,071 (GRCm39) |
Q116L |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,097,941 (GRCm39) |
N464Y |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,093,161 (GRCm39) |
V494M |
possibly damaging |
Het |
| Rapgef4 |
T |
G |
2: 71,885,370 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,160,099 (GRCm39) |
E318G |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,271,667 (GRCm39) |
D215G |
probably benign |
Het |
| Rp1l1 |
C |
T |
14: 64,266,496 (GRCm39) |
T694I |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 75,929,771 (GRCm39) |
L1032P |
probably damaging |
Het |
| Sectm1b |
G |
A |
11: 120,946,652 (GRCm39) |
T81M |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,942,518 (GRCm39) |
F97L |
possibly damaging |
Het |
| Socs3 |
A |
T |
11: 117,858,394 (GRCm39) |
Y221* |
probably null |
Het |
| Spata31d1e |
A |
T |
13: 59,890,717 (GRCm39) |
S368T |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,498 (GRCm39) |
H850L |
probably benign |
Het |
| Tex44 |
G |
T |
1: 86,354,908 (GRCm39) |
Q272H |
probably damaging |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,625 (GRCm39) |
S426A |
probably benign |
Het |
| Tmem39b |
T |
C |
4: 129,570,456 (GRCm39) |
Y461C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,337 (GRCm39) |
D30556V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,455 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,375 (GRCm39) |
I701V |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,154,129 (GRCm39) |
L622Q |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,822,923 (GRCm39) |
H1347L |
probably benign |
Het |
| Xylt2 |
A |
C |
11: 94,560,393 (GRCm39) |
M294R |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,298,499 (GRCm39) |
Y326* |
probably null |
Het |
| Zim1 |
A |
G |
7: 6,685,124 (GRCm39) |
F109L |
probably benign |
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 |
|
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 |
|
|
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'- CATCAGTGGCGCAATGCATGAAG -3'
(R):5'- ATCCTGGACTCCATCATGGGTCTC -3'
Sequencing Primer
(F):5'- CGCAATGCATGAAGAGGATG -3'
(R):5'- TCCATCATGGGTCTCTAACAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation