Incidental Mutation 'R7737:Xpo5'
ID |
628462 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo5
|
Ensembl Gene |
ENSMUSG00000067150 |
Gene Name |
exportin 5 |
Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
MMRRC Submission |
045793-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7737 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
Type of Mutation |
splice site (89 bp from exon) |
DNA Base Change (assembly) |
G to A
at 46547016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
AlphaFold |
Q924C1 |
Predicted Effect |
probably null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (63/64) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
T |
8: 114,463,566 (GRCm39) |
|
probably null |
Het |
Akap3 |
T |
A |
6: 126,851,065 (GRCm39) |
M861K |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,254,470 (GRCm39) |
T380A |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,250,728 (GRCm39) |
E493G |
possibly damaging |
Het |
Arvcf |
G |
A |
16: 18,214,966 (GRCm39) |
R119Q |
probably damaging |
Het |
Asmt |
T |
C |
X: 169,110,175 (GRCm39) |
F228S |
probably damaging |
Het |
Atp2c2 |
T |
A |
8: 120,469,134 (GRCm39) |
V349E |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
Brinp3 |
G |
T |
1: 146,558,332 (GRCm39) |
K85N |
probably damaging |
Het |
Ccr6 |
G |
A |
17: 8,463,926 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,603,338 (GRCm39) |
A882V |
possibly damaging |
Het |
Epha4 |
C |
T |
1: 77,357,649 (GRCm39) |
G783D |
probably damaging |
Het |
Ephb1 |
T |
A |
9: 101,861,302 (GRCm39) |
I621F |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,530,331 (GRCm39) |
Y93* |
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,498 (GRCm39) |
V2095E |
probably damaging |
Het |
Gak |
A |
C |
5: 108,764,874 (GRCm39) |
L84R |
probably benign |
Het |
Gm5458 |
A |
T |
14: 19,649,805 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
C |
G |
4: 133,302,407 (GRCm39) |
Q113E |
probably benign |
Het |
Gpld1 |
C |
A |
13: 25,159,709 (GRCm39) |
L426M |
probably damaging |
Het |
Ighmbp2 |
G |
A |
19: 3,324,467 (GRCm39) |
P234S |
unknown |
Het |
Itga6 |
G |
A |
2: 71,652,787 (GRCm39) |
V217I |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,121,338 (GRCm39) |
N872K |
probably benign |
Het |
Klhl14 |
G |
T |
18: 21,691,191 (GRCm39) |
Y446* |
probably null |
Het |
Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
Lct |
A |
T |
1: 128,226,430 (GRCm39) |
W1320R |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,326,782 (GRCm39) |
D1763G |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,699,649 (GRCm39) |
N2499Y |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,400,003 (GRCm39) |
|
probably null |
Het |
Mettl15 |
T |
C |
2: 108,967,723 (GRCm39) |
K188E |
probably damaging |
Het |
Mfsd4b1 |
A |
G |
10: 39,879,274 (GRCm39) |
S208P |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,164,235 (GRCm39) |
S793P |
possibly damaging |
Het |
Ms4a14 |
G |
A |
19: 11,280,150 (GRCm39) |
Q803* |
probably null |
Het |
Mtor |
A |
C |
4: 148,623,195 (GRCm39) |
E2015A |
possibly damaging |
Het |
Myo15b |
A |
T |
11: 115,778,749 (GRCm39) |
Y2581F |
unknown |
Het |
Myo7b |
A |
T |
18: 32,147,257 (GRCm39) |
Y95* |
probably null |
Het |
Nf1 |
A |
G |
11: 79,436,314 (GRCm39) |
I1985V |
probably benign |
Het |
Noxred1 |
G |
A |
12: 87,268,136 (GRCm39) |
Q332* |
probably null |
Het |
Nudt21 |
A |
T |
8: 94,749,461 (GRCm39) |
Y202N |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,217,890 (GRCm39) |
L608P |
probably damaging |
Het |
Or1j16 |
A |
T |
2: 36,530,632 (GRCm39) |
I194F |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 115,955,488 (GRCm39) |
S1176T |
probably damaging |
Het |
Pramel14 |
A |
C |
4: 143,718,526 (GRCm39) |
S306A |
possibly damaging |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
Rbmxl1 |
A |
G |
8: 79,232,252 (GRCm39) |
S364P |
unknown |
Het |
Rnf24 |
T |
A |
2: 131,145,416 (GRCm39) |
K131N |
probably benign |
Het |
Scai |
T |
A |
2: 39,013,034 (GRCm39) |
Q132L |
probably damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,881,297 (GRCm39) |
R49G |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,936,796 (GRCm39) |
E152G |
probably benign |
Het |
Slc22a27 |
A |
T |
19: 7,874,127 (GRCm39) |
M316K |
probably damaging |
Het |
Spag1 |
G |
T |
15: 36,210,856 (GRCm39) |
A427S |
probably benign |
Het |
Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Stk16 |
G |
T |
1: 75,187,995 (GRCm39) |
C8F |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,989,622 (GRCm39) |
C1834R |
probably damaging |
Het |
Tie1 |
C |
T |
4: 118,336,054 (GRCm39) |
|
probably null |
Het |
Timp2 |
A |
G |
11: 118,194,721 (GRCm39) |
I156T |
probably damaging |
Het |
Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
Tmx4 |
T |
A |
2: 134,481,588 (GRCm39) |
M112L |
probably benign |
Het |
Trank1 |
G |
T |
9: 111,195,080 (GRCm39) |
E1035* |
probably null |
Het |
Trim5 |
C |
T |
7: 103,928,771 (GRCm39) |
V57M |
probably damaging |
Het |
Ubr3 |
A |
G |
2: 69,821,910 (GRCm39) |
S1391G |
probably benign |
Het |
Vmn1r72 |
A |
T |
7: 11,403,634 (GRCm39) |
S271R |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,674,941 (GRCm39) |
H635L |
probably damaging |
Het |
Zfp791 |
A |
T |
8: 85,838,844 (GRCm39) |
N62K |
probably benign |
Het |
Zfp998 |
A |
G |
13: 66,581,738 (GRCm39) |
|
probably null |
Het |
Zmynd11 |
G |
A |
13: 9,745,175 (GRCm39) |
T248M |
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 |
|
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 |
|
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'- GCAGCAAGATTTCTACACTGTGG -3'
(R):5'- TAGAGAGTTCCTGGCAAACAC -3'
Sequencing Primer
(F):5'- CAAGATTTCTACACTGTGGAGGACC -3'
(R):5'- GAGAGTTCCTGGCAAACACAAACC -3'
|
Posted On |
2020-04-20 |