Incidental Mutation 'R5176:Xpo1'
ID |
399314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo1
|
Ensembl Gene |
ENSMUSG00000020290 |
Gene Name |
exportin 1 |
Synonyms |
Crm1 |
MMRRC Submission |
042756-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5176 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
23206041-23248249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23245977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1029
(D1029G)
|
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: D1029G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020538 Gene: ENSMUSG00000020290 AA Change: D1029G
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: D1029G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099933 Gene: ENSMUSG00000020290 AA Change: D1029G
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: D1029G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099934 Gene: ENSMUSG00000020290 AA Change: D1029G
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: D1029G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105178 Gene: ENSMUSG00000020290 AA Change: D1029G
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 |
|
Meta Mutation Damage Score |
0.4320 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (69/70) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
Apobr |
A |
G |
7: 126,184,188 (GRCm39) |
D2G |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,931,982 (GRCm39) |
H168Q |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
Rusc1 |
A |
G |
3: 88,996,389 (GRCm39) |
S109P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
Steap3 |
C |
T |
1: 120,171,497 (GRCm39) |
|
probably null |
Het |
Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
Trappc11 |
C |
A |
8: 47,963,998 (GRCm39) |
V601L |
possibly damaging |
Het |
Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
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 |
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'- TTAGCCTGGAGTAAACAGTAGTAG -3'
(R):5'- TCTTCCAGGAACAAATGTTGCAG -3'
Sequencing Primer
(F):5'- CAGTAGTAGTATCTAAGACTCCCAC -3'
(R):5'- GCCTAGCATGACTTCAGAT -3'
|
Posted On |
2016-07-06 |