Incidental Mutation 'R0009:Xpo5'
| ID |
40504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2700038C24Rik, 2410004H11Rik |
| 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 |
46202855-46242299 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 46204786 bp (GRCm38)
|
| 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: 60,919,633 (GRCm38) |
|
probably benign |
Het |
| Abcg4 |
T |
G |
9: 44,277,649 (GRCm38) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,545,384 (GRCm38) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,283,024 (GRCm38) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 85,137,276 (GRCm38) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,611,727 (GRCm38) |
H264L |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,579,835 (GRCm38) |
I886N |
possibly damaging |
Het |
| Bmf |
A |
T |
2: 118,549,622 (GRCm38) |
V14E |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 17,144,039 (GRCm38) |
E15G |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,135,965 (GRCm38) |
N427D |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,299,176 (GRCm38) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,349,906 (GRCm38) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,516,180 (GRCm38) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,701,413 (GRCm38) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,463,759 (GRCm38) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 119,020,046 (GRCm38) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,169,312 (GRCm38) |
L565Q |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,621,903 (GRCm38) |
C1004S |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,045,522 (GRCm38) |
I2135N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,769,407 (GRCm38) |
|
probably benign |
Het |
| Dnase1 |
T |
C |
16: 4,038,946 (GRCm38) |
V147A |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 142,082,054 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,662,787 (GRCm38) |
Y1828H |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 191,008,191 (GRCm38) |
V544A |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,687,209 (GRCm38) |
V311A |
probably benign |
Het |
| Glud1 |
G |
A |
14: 34,334,268 (GRCm38) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,630,486 (GRCm38) |
V433I |
probably benign |
Het |
| Gstm3 |
T |
G |
3: 107,967,840 (GRCm38) |
Y62S |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,862,435 (GRCm38) |
P151S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 56,207,812 (GRCm38) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 138,221,683 (GRCm38) |
I19K |
probably benign |
Het |
| Htr7 |
C |
A |
19: 36,041,540 (GRCm38) |
|
probably benign |
Het |
| Il1a |
C |
T |
2: 129,309,074 (GRCm38) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,624,458 (GRCm38) |
N39I |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,379,255 (GRCm38) |
C267R |
possibly damaging |
Het |
| Larp1 |
A |
G |
11: 58,055,473 (GRCm38) |
K879R |
possibly damaging |
Het |
| Lcn5 |
T |
A |
2: 25,661,405 (GRCm38) |
|
probably benign |
Het |
| Lep |
T |
A |
6: 29,068,972 (GRCm38) |
C7* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,611,055 (GRCm38) |
Y747F |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,742,058 (GRCm38) |
T1223A |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,445,933 (GRCm38) |
E803K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,611,508 (GRCm38) |
I796T |
probably benign |
Het |
| Myef2 |
A |
T |
2: 125,108,978 (GRCm38) |
D312E |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,767,929 (GRCm38) |
D119A |
probably damaging |
Het |
| Myo19 |
T |
A |
11: 84,888,169 (GRCm38) |
|
probably null |
Het |
| Naa15 |
T |
G |
3: 51,470,219 (GRCm38) |
H763Q |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,824,902 (GRCm38) |
|
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,527,244 (GRCm38) |
R184H |
probably benign |
Het |
| Rab19 |
T |
G |
6: 39,389,687 (GRCm38) |
L179V |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,534,966 (GRCm38) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,489,367 (GRCm38) |
D361E |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,226,293 (GRCm38) |
V123E |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 72,484,709 (GRCm38) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,763,602 (GRCm38) |
E604V |
probably benign |
Het |
| Srp72 |
T |
C |
5: 76,987,885 (GRCm38) |
S221P |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 165,160,520 (GRCm38) |
S15T |
possibly damaging |
Het |
| Tcea2 |
A |
G |
2: 181,685,817 (GRCm38) |
T112A |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,368 (GRCm38) |
D230E |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,510,712 (GRCm38) |
A179V |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,852,416 (GRCm38) |
G320V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,503,320 (GRCm38) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,914,446 (GRCm38) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,002,879 (GRCm38) |
C505S |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Zfp637 |
C |
A |
6: 117,845,668 (GRCm38) |
H252Q |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,880,731 (GRCm38) |
D693E |
probably damaging |
Het |
|
| Other mutations in Xpo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Xpo5
|
APN |
17 |
46,225,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00650:Xpo5
|
APN |
17 |
46,208,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00785:Xpo5
|
APN |
17 |
46,204,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01869:Xpo5
|
APN |
17 |
46,242,207 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01929:Xpo5
|
APN |
17 |
46,202,929 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02433:Xpo5
|
APN |
17 |
46,239,520 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02550:Xpo5
|
APN |
17 |
46,229,329 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02637:Xpo5
|
APN |
17 |
46,235,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02942:Xpo5
|
APN |
17 |
46,208,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03004:Xpo5
|
APN |
17 |
46,207,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Xpo5
|
APN |
17 |
46,215,814 (GRCm38) |
splice site |
probably null |
|
|
IGL03296:Xpo5
|
APN |
17 |
46,221,394 (GRCm38) |
nonsense |
probably null |
|
|
fortify
|
UTSW |
17 |
46,221,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
fortissimo
|
UTSW |
17 |
46,235,970 (GRCm38) |
missense |
probably benign |
0.36 |
|
PIT4403001:Xpo5
|
UTSW |
17 |
46,239,569 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0009:Xpo5
|
UTSW |
17 |
46,204,786 (GRCm38) |
splice site |
probably benign |
|
|
R0035:Xpo5
|
UTSW |
17 |
46,240,175 (GRCm38) |
missense |
probably benign |
|
|
R0276:Xpo5
|
UTSW |
17 |
46,241,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0626:Xpo5
|
UTSW |
17 |
46,221,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0843:Xpo5
|
UTSW |
17 |
46,222,650 (GRCm38) |
splice site |
probably benign |
|
|
R1440:Xpo5
|
UTSW |
17 |
46,207,927 (GRCm38) |
splice site |
probably benign |
|
|
R1506:Xpo5
|
UTSW |
17 |
46,227,888 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1513:Xpo5
|
UTSW |
17 |
46,226,980 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2060:Xpo5
|
UTSW |
17 |
46,225,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2258:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2259:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2260:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2263:Xpo5
|
UTSW |
17 |
46,230,343 (GRCm38) |
missense |
probably benign |
|
|
R3016:Xpo5
|
UTSW |
17 |
46,220,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3149:Xpo5
|
UTSW |
17 |
46,242,247 (GRCm38) |
splice site |
probably null |
|
|
R3150:Xpo5
|
UTSW |
17 |
46,242,247 (GRCm38) |
splice site |
probably null |
|
|
R4613:Xpo5
|
UTSW |
17 |
46,236,963 (GRCm38) |
missense |
probably benign |
|
|
R4784:Xpo5
|
UTSW |
17 |
46,222,717 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4808:Xpo5
|
UTSW |
17 |
46,235,970 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4981:Xpo5
|
UTSW |
17 |
46,220,817 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5159:Xpo5
|
UTSW |
17 |
46,217,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5286:Xpo5
|
UTSW |
17 |
46,234,480 (GRCm38) |
missense |
probably benign |
|
|
R5294:Xpo5
|
UTSW |
17 |
46,236,922 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5550:Xpo5
|
UTSW |
17 |
46,234,492 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5750:Xpo5
|
UTSW |
17 |
46,218,630 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5774:Xpo5
|
UTSW |
17 |
46,241,846 (GRCm38) |
nonsense |
probably null |
|
|
R5921:Xpo5
|
UTSW |
17 |
46,221,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6165:Xpo5
|
UTSW |
17 |
46,235,957 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6576:Xpo5
|
UTSW |
17 |
46,240,808 (GRCm38) |
splice site |
probably null |
|
|
R7244:Xpo5
|
UTSW |
17 |
46,214,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:Xpo5
|
UTSW |
17 |
46,221,369 (GRCm38) |
missense |
probably benign |
|
|
R7737:Xpo5
|
UTSW |
17 |
46,236,090 (GRCm38) |
splice site |
probably null |
|
|
R8144:Xpo5
|
UTSW |
17 |
46,208,219 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8752:Xpo5
|
UTSW |
17 |
46,236,912 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8882:Xpo5
|
UTSW |
17 |
46,227,740 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9370:Xpo5
|
UTSW |
17 |
46,235,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0019:Xpo5
|
UTSW |
17 |
46,234,544 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0062:Xpo5
|
UTSW |
17 |
46,230,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo5
|
UTSW |
17 |
46,220,762 (GRCm38) |
missense |
probably benign |
0.11 |
|
Z1177:Xpo5
|
UTSW |
17 |
46,225,124 (GRCm38) |
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