Incidental Mutation 'R8823:Xpo1'
| ID |
673286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo1
|
| Ensembl Gene |
ENSMUSG00000020290 |
| Gene Name |
exportin 1 |
| Synonyms |
Crm1 |
| MMRRC Submission |
068656-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8823 (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 T
at 23217752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 73
(M73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020538]
[ENSMUST00000102869]
[ENSMUST00000102870]
[ENSMUST00000109551]
[ENSMUST00000136235]
|
| 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: M73L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: M73L
| 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: M73L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: M73L
| 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: M73L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: M73L
| 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: M73L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: M73L
| 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: ENSMUST00000136235
|
| SMART Domains |
Protein: ENSMUSP00000123634
Gene: ENSMUSG00000020290
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4BSN|A
|
1 |
59 |
4e-35 |
PDB |
|
| Meta Mutation Damage Score |
0.0603 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
A |
8: 41,133,228 (GRCm39) |
I232K |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,460,191 (GRCm39) |
L506P |
probably benign |
Het |
| Atg5lrt |
A |
T |
10: 95,972,633 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ceacam20 |
A |
T |
7: 19,705,429 (GRCm39) |
Y140F |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,300,258 (GRCm39) |
R334H |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,880 (GRCm39) |
H78R |
probably damaging |
Het |
| Etnppl |
G |
A |
3: 130,420,195 (GRCm39) |
G204R |
probably damaging |
Het |
| Fah |
A |
G |
7: 84,254,925 (GRCm39) |
F3L |
possibly damaging |
Het |
| Galnt12 |
G |
T |
4: 47,091,928 (GRCm39) |
|
probably benign |
Het |
| Gbx1 |
A |
G |
5: 24,710,051 (GRCm39) |
S265P |
probably damaging |
Het |
| Gm17087 |
A |
G |
17: 8,785,233 (GRCm39) |
*157R |
probably null |
Het |
| Grin2a |
T |
A |
16: 9,487,758 (GRCm39) |
N380I |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,811,856 (GRCm39) |
T269I |
|
Het |
| Hace1 |
T |
C |
10: 45,524,956 (GRCm39) |
Y241H |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,722 (GRCm39) |
D291G |
possibly damaging |
Het |
| Ifi208 |
A |
G |
1: 173,511,102 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-5 |
A |
G |
12: 115,031,267 (GRCm39) |
S91P |
probably damaging |
Het |
| Igkv15-103 |
T |
C |
6: 68,414,855 (GRCm39) |
L98P |
probably damaging |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,347,077 (GRCm39) |
W138R |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,668,240 (GRCm39) |
L69Q |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,574,330 (GRCm39) |
I505T |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,294,193 (GRCm39) |
I313F |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,040,648 (GRCm39) |
I733F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,076,300 (GRCm39) |
R800S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,492,571 (GRCm39) |
I728N |
possibly damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,155 (GRCm39) |
I158T |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,969,220 (GRCm39) |
R33G |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,967,457 (GRCm39) |
F950S |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,384,282 (GRCm39) |
M697K |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,606,716 (GRCm39) |
R166K |
possibly damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,609 (GRCm39) |
N254K |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
T |
A |
9: 14,221,536 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,877,894 (GRCm39) |
H291Q |
probably damaging |
Het |
| Slc38a3 |
A |
C |
9: 107,533,150 (GRCm39) |
Y308D |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,535 (GRCm39) |
V106A |
probably benign |
Het |
| Sybu |
C |
A |
15: 44,540,998 (GRCm39) |
A355S |
possibly damaging |
Het |
| Tes3-ps |
A |
T |
13: 49,647,692 (GRCm39) |
R189S |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,382,604 (GRCm39) |
D164G |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,823 (GRCm39) |
Q88R |
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,832 (GRCm39) |
V39A |
probably benign |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,350,892 (GRCm39) |
K2E |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,568 (GRCm39) |
K413R |
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 |
|
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 |
|
|
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'- TGGTAACTGGTACATTTCTCACATG -3'
(R):5'- ACCTTGCACTCTAGTCCCAG -3'
Sequencing Primer
(F):5'- AAGTATCACTTCACTGTGTTGTTAGG -3'
(R):5'- TGCACTCTAGTCCCAGTTATAAAAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation