Incidental Mutation 'IGL02550:Xpo5'
ID |
298036 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Xpo5
|
Ensembl Gene |
ENSMUSG00000067150 |
Gene Name |
exportin 5 |
Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02550
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46540255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 693
(D693G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
AlphaFold |
Q924C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
AA Change: D693G
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000084257 Gene: ENSMUSG00000067150 AA Change: D693G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179407
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
A |
G |
1: 66,884,325 (GRCm39) |
|
probably null |
Het |
Acer3 |
G |
A |
7: 97,873,185 (GRCm39) |
T171I |
probably benign |
Het |
Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
Anxa2 |
A |
G |
9: 69,374,588 (GRCm39) |
S22G |
probably benign |
Het |
Arrb2 |
T |
C |
11: 70,327,696 (GRCm39) |
I120T |
probably damaging |
Het |
Atp11a |
G |
T |
8: 12,866,997 (GRCm39) |
K141N |
possibly damaging |
Het |
Casd1 |
T |
C |
6: 4,642,009 (GRCm39) |
V762A |
probably benign |
Het |
Ccdc61 |
A |
T |
7: 18,627,227 (GRCm39) |
S48T |
probably benign |
Het |
Cntn2 |
T |
C |
1: 132,456,801 (GRCm39) |
M82V |
probably null |
Het |
Cobll1 |
A |
G |
2: 64,938,207 (GRCm39) |
S359P |
probably damaging |
Het |
Ctnnbl1 |
C |
A |
2: 157,726,055 (GRCm39) |
D465E |
probably benign |
Het |
Def6 |
A |
T |
17: 28,447,235 (GRCm39) |
E622V |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,854,083 (GRCm39) |
Y678H |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,935,724 (GRCm39) |
M1K |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,357,962 (GRCm39) |
K216E |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,156,017 (GRCm39) |
D545G |
probably benign |
Het |
Galnt12 |
A |
T |
4: 47,104,126 (GRCm39) |
D128V |
possibly damaging |
Het |
Gm1110 |
C |
T |
9: 26,793,130 (GRCm39) |
V549I |
probably benign |
Het |
Gm7361 |
A |
G |
5: 26,466,120 (GRCm39) |
I161V |
possibly damaging |
Het |
Gsn |
T |
C |
2: 35,172,619 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
A |
T |
7: 106,200,846 (GRCm39) |
|
noncoding transcript |
Het |
Il16 |
T |
A |
7: 83,323,704 (GRCm39) |
Q282L |
possibly damaging |
Het |
Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
Insrr |
T |
C |
3: 87,711,805 (GRCm39) |
L515P |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,828,466 (GRCm39) |
F480S |
probably benign |
Het |
Klc4 |
C |
A |
17: 46,947,836 (GRCm39) |
|
probably null |
Het |
Klhl12 |
G |
T |
1: 134,395,443 (GRCm39) |
C135F |
possibly damaging |
Het |
Ly6m |
T |
G |
15: 74,752,604 (GRCm39) |
H24P |
probably damaging |
Het |
Mboat7 |
G |
T |
7: 3,686,905 (GRCm39) |
|
probably null |
Het |
Myo1f |
G |
A |
17: 33,807,116 (GRCm39) |
D522N |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,799,124 (GRCm39) |
|
probably benign |
Het |
Nbea |
C |
A |
3: 55,926,835 (GRCm39) |
M789I |
probably damaging |
Het |
Ncapd2 |
T |
C |
6: 125,154,410 (GRCm39) |
D602G |
probably benign |
Het |
Ncaph2 |
A |
T |
15: 89,254,064 (GRCm39) |
K344* |
probably null |
Het |
Nek2 |
A |
G |
1: 191,554,371 (GRCm39) |
Y70C |
probably damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,349 (GRCm39) |
D121V |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,158,845 (GRCm39) |
L27P |
probably damaging |
Het |
Or5ak22 |
G |
A |
2: 85,230,166 (GRCm39) |
A237V |
probably damaging |
Het |
Or7e166 |
C |
A |
9: 19,624,343 (GRCm39) |
F73L |
possibly damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,842 (GRCm39) |
Y60F |
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,937,544 (GRCm39) |
K625* |
probably null |
Het |
Plrg1 |
T |
C |
3: 82,968,430 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
A |
G |
5: 21,203,137 (GRCm39) |
V547A |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,290,331 (GRCm39) |
D748G |
probably damaging |
Het |
Rcbtb2 |
A |
G |
14: 73,399,459 (GRCm39) |
E41G |
probably damaging |
Het |
Rela |
G |
T |
19: 5,691,534 (GRCm39) |
R236L |
possibly damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,604,059 (GRCm39) |
S188P |
probably damaging |
Het |
Sipa1l1 |
A |
T |
12: 82,487,723 (GRCm39) |
K1666* |
probably null |
Het |
Slco1a1 |
C |
T |
6: 141,889,191 (GRCm39) |
M40I |
probably benign |
Het |
Smarca4 |
C |
A |
9: 21,597,418 (GRCm39) |
P1391Q |
probably benign |
Het |
Stra6 |
A |
G |
9: 58,057,366 (GRCm39) |
N392S |
possibly damaging |
Het |
Syt4 |
A |
G |
18: 31,577,246 (GRCm39) |
I36T |
probably damaging |
Het |
Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
Tmem87a |
T |
A |
2: 120,204,966 (GRCm39) |
|
probably null |
Het |
Tmf1 |
T |
C |
6: 97,135,522 (GRCm39) |
D918G |
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,412,535 (GRCm39) |
Y312C |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,703,561 (GRCm39) |
R1178C |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,671,994 (GRCm39) |
I577N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,242 (GRCm39) |
V953A |
probably benign |
Het |
Wasl |
A |
G |
6: 24,633,883 (GRCm39) |
F127S |
probably damaging |
Het |
Wdr1 |
C |
T |
5: 38,698,206 (GRCm39) |
V192I |
probably damaging |
Het |
Wnt9a |
C |
T |
11: 59,221,744 (GRCm39) |
T214I |
probably damaging |
Het |
Zan |
A |
G |
5: 137,385,301 (GRCm39) |
L5044P |
unknown |
Het |
Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |