Incidental Mutation 'R0009:Xpo5'
| ID |
40504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 46515712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024749]
[ENSMUST00000087031]
|
| AlphaFold |
Q924C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024749
|
| SMART Domains |
Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
12 |
227 |
9.7e-53 |
PFAM |
|
Pfam:IMS_C
|
308 |
435 |
5.8e-15 |
PFAM |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
561 |
N/A |
INTRINSIC |
|
PDB:2I5O|A
|
606 |
643 |
7e-15 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
33 |
100 |
6.73e-3 |
SMART |
|
Pfam:Xpo1
|
109 |
271 |
1.4e-34 |
PFAM |
|
low complexity region
|
326 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
779 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
T |
G |
9: 44,188,946 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,487,151 (GRCm39) |
I886N |
possibly damaging |
Het |
| Bmf |
A |
T |
2: 118,380,103 (GRCm39) |
V14E |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,182,739 (GRCm39) |
N427D |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,067,193 (GRCm39) |
L565Q |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,671,939 (GRCm39) |
C1004S |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,009,257 (GRCm39) |
I2135N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,596,972 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,635,791 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,534,636 (GRCm39) |
Y1828H |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,740,388 (GRCm39) |
V544A |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,687,209 (GRCm39) |
V311A |
probably benign |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Gstm3 |
T |
G |
3: 107,875,156 (GRCm39) |
Y62S |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,636 (GRCm39) |
P151S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Htr7 |
C |
A |
19: 36,018,940 (GRCm39) |
|
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,078,680 (GRCm39) |
C267R |
possibly damaging |
Het |
| Larp1 |
A |
G |
11: 57,946,299 (GRCm39) |
K879R |
possibly damaging |
Het |
| Lcn5 |
T |
A |
2: 25,551,417 (GRCm39) |
|
probably benign |
Het |
| Lep |
T |
A |
6: 29,068,971 (GRCm39) |
C7* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,878,566 (GRCm39) |
T1223A |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,502,334 (GRCm39) |
I796T |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,950,898 (GRCm39) |
D312E |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Myo19 |
T |
A |
11: 84,778,995 (GRCm39) |
|
probably null |
Het |
| Naa15 |
T |
G |
3: 51,377,640 (GRCm39) |
H763Q |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,618,551 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,078 (GRCm39) |
R184H |
probably benign |
Het |
| Rab19 |
T |
G |
6: 39,366,621 (GRCm39) |
L179V |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,679,327 (GRCm39) |
V123E |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,135,732 (GRCm39) |
S221P |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tcea2 |
A |
G |
2: 181,327,610 (GRCm39) |
T112A |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,368 (GRCm39) |
D230E |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,679,986 (GRCm39) |
G320V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp637 |
C |
A |
6: 117,822,629 (GRCm39) |
H252Q |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,479,903 (GRCm39) |
D693E |
probably damaging |
Het |
|
| Other mutations in Xpo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Xpo5
|
APN |
17 |
46,535,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00650:Xpo5
|
APN |
17 |
46,519,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Xpo5
|
APN |
17 |
46,515,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Xpo5
|
APN |
17 |
46,553,133 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01929:Xpo5
|
APN |
17 |
46,513,855 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02433:Xpo5
|
APN |
17 |
46,550,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02550:Xpo5
|
APN |
17 |
46,540,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02637:Xpo5
|
APN |
17 |
46,546,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Xpo5
|
APN |
17 |
46,519,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03004:Xpo5
|
APN |
17 |
46,518,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Xpo5
|
APN |
17 |
46,526,740 (GRCm39) |
splice site |
probably null |
|
|
IGL03296:Xpo5
|
APN |
17 |
46,532,320 (GRCm39) |
nonsense |
probably null |
|
|
fortify
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
fortissimo
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
PIT4403001:Xpo5
|
UTSW |
17 |
46,550,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0009:Xpo5
|
UTSW |
17 |
46,515,712 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Xpo5
|
UTSW |
17 |
46,551,101 (GRCm39) |
missense |
probably benign |
|
|
R0276:Xpo5
|
UTSW |
17 |
46,552,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Xpo5
|
UTSW |
17 |
46,532,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Xpo5
|
UTSW |
17 |
46,533,576 (GRCm39) |
splice site |
probably benign |
|
|
R1440:Xpo5
|
UTSW |
17 |
46,518,853 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Xpo5
|
UTSW |
17 |
46,538,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1513:Xpo5
|
UTSW |
17 |
46,537,906 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2060:Xpo5
|
UTSW |
17 |
46,536,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2259:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2260:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2263:Xpo5
|
UTSW |
17 |
46,541,269 (GRCm39) |
missense |
probably benign |
|
|
R3016:Xpo5
|
UTSW |
17 |
46,531,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R3150:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R4613:Xpo5
|
UTSW |
17 |
46,547,889 (GRCm39) |
missense |
probably benign |
|
|
R4784:Xpo5
|
UTSW |
17 |
46,533,643 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4808:Xpo5
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4981:Xpo5
|
UTSW |
17 |
46,531,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5159:Xpo5
|
UTSW |
17 |
46,528,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Xpo5
|
UTSW |
17 |
46,545,406 (GRCm39) |
missense |
probably benign |
|
|
R5294:Xpo5
|
UTSW |
17 |
46,547,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5550:Xpo5
|
UTSW |
17 |
46,545,418 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5750:Xpo5
|
UTSW |
17 |
46,529,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5774:Xpo5
|
UTSW |
17 |
46,552,772 (GRCm39) |
nonsense |
probably null |
|
|
R5921:Xpo5
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6165:Xpo5
|
UTSW |
17 |
46,546,883 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6576:Xpo5
|
UTSW |
17 |
46,551,734 (GRCm39) |
splice site |
probably null |
|
|
R7244:Xpo5
|
UTSW |
17 |
46,525,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Xpo5
|
UTSW |
17 |
46,532,295 (GRCm39) |
missense |
probably benign |
|
|
R7737:Xpo5
|
UTSW |
17 |
46,547,016 (GRCm39) |
splice site |
probably null |
|
|
R8144:Xpo5
|
UTSW |
17 |
46,519,145 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8752:Xpo5
|
UTSW |
17 |
46,547,838 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8882:Xpo5
|
UTSW |
17 |
46,538,666 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9370:Xpo5
|
UTSW |
17 |
46,546,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Xpo5
|
UTSW |
17 |
46,545,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Xpo5
|
UTSW |
17 |
46,541,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo5
|
UTSW |
17 |
46,531,688 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Xpo5
|
UTSW |
17 |
46,536,050 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCTCCATCATCCATGAACATC -3'
(R):5'- TCACAAATTAGCATTTCCCCATCTAGCC -3'
Sequencing Primer
(F):5'- TGAACAGTTCGGTTCCCAG -3'
(R):5'- gccatcttcctgcttcagttc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation