Incidental Mutation 'R2260:Xpo5'
ID |
243761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo5
|
Ensembl Gene |
ENSMUSG00000067150 |
Gene Name |
exportin 5 |
Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
MMRRC Submission |
040260-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2260 (G1)
|
Quality Score |
213 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 46551822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1050
(Q1050*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087026]
[ENSMUST00000087031]
[ENSMUST00000124655]
[ENSMUST00000142706]
[ENSMUST00000173232]
[ENSMUST00000173349]
|
AlphaFold |
Q924C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087026
|
SMART Domains |
Protein: ENSMUSP00000084252 Gene: ENSMUSG00000067148
Domain | Start | End | E-Value | Type |
RPOLD
|
60 |
339 |
4.53e-124 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087031
AA Change: Q1050*
|
SMART Domains |
Protein: ENSMUSP00000084257 Gene: ENSMUSG00000067150 AA Change: Q1050*
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 |
probably benign
Transcript: ENSMUST00000124655
|
SMART Domains |
Protein: ENSMUSP00000122026 Gene: ENSMUSG00000067148
Domain | Start | End | E-Value | Type |
RPOLD
|
1 |
253 |
2.14e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142706
|
SMART Domains |
Protein: ENSMUSP00000116998 Gene: ENSMUSG00000067148
Domain | Start | End | E-Value | Type |
RPOLD
|
60 |
255 |
9.13e-47 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152583
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173232
|
SMART Domains |
Protein: ENSMUSP00000133597 Gene: ENSMUSG00000067148
Domain | Start | End | E-Value | Type |
Pfam:RNA_pol_L
|
61 |
100 |
1.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173349
|
SMART Domains |
Protein: ENSMUSP00000133861 Gene: ENSMUSG00000067148
Domain | Start | End | E-Value | Type |
RPOLD
|
42 |
170 |
2.3e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174392
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,354,978 (GRCm39) |
N1252I |
probably damaging |
Het |
Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,716,493 (GRCm39) |
V840E |
probably damaging |
Het |
Adnp2 |
A |
T |
18: 80,171,664 (GRCm39) |
M915K |
probably benign |
Het |
Cd101 |
G |
C |
3: 100,924,261 (GRCm39) |
L393V |
possibly damaging |
Het |
Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
Cdc37l1 |
A |
T |
19: 28,984,448 (GRCm39) |
K194N |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,101,749 (GRCm39) |
T262A |
possibly damaging |
Het |
Chit1 |
A |
G |
1: 134,078,865 (GRCm39) |
S392G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
Dusp12 |
C |
T |
1: 170,708,580 (GRCm39) |
R120H |
probably damaging |
Het |
Eln |
C |
A |
5: 134,758,508 (GRCm39) |
A126S |
unknown |
Het |
Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
Fkbp6 |
C |
T |
5: 135,366,468 (GRCm39) |
|
probably null |
Het |
Ftcd |
T |
A |
10: 76,423,893 (GRCm39) |
|
probably null |
Het |
Gdf10 |
T |
C |
14: 33,654,234 (GRCm39) |
L247P |
probably damaging |
Het |
Gigyf1 |
C |
A |
5: 137,518,594 (GRCm39) |
A215E |
possibly damaging |
Het |
Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
Itfg1 |
C |
T |
8: 86,449,306 (GRCm39) |
C576Y |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,044,502 (GRCm39) |
A134S |
probably damaging |
Het |
Larp4 |
T |
G |
15: 99,895,277 (GRCm39) |
F283L |
possibly damaging |
Het |
Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,394 (GRCm39) |
D238E |
probably benign |
Het |
Mfn1 |
G |
T |
3: 32,617,575 (GRCm39) |
E74* |
probably null |
Het |
Mfn2 |
C |
A |
4: 147,979,063 (GRCm39) |
E90* |
probably null |
Het |
Mill2 |
T |
A |
7: 18,590,413 (GRCm39) |
D164E |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,424,965 (GRCm39) |
R170S |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,687,359 (GRCm39) |
I93V |
probably damaging |
Het |
Or4c100 |
G |
A |
2: 88,356,730 (GRCm39) |
V268I |
possibly damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
Pald1 |
G |
A |
10: 61,188,750 (GRCm39) |
R87W |
probably damaging |
Het |
Paox |
T |
A |
7: 139,713,967 (GRCm39) |
Y242* |
probably null |
Het |
Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,350,268 (GRCm39) |
Q371R |
probably benign |
Het |
Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,082,145 (GRCm39) |
D38G |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,460,583 (GRCm39) |
E298K |
probably benign |
Het |
Rbm12b2 |
G |
A |
4: 12,095,061 (GRCm39) |
R640H |
probably benign |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,341,962 (GRCm39) |
E604* |
probably null |
Het |
Rin2 |
A |
G |
2: 145,720,824 (GRCm39) |
D719G |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,662,142 (GRCm39) |
Q155* |
probably null |
Het |
Tacr1 |
A |
T |
6: 82,380,756 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d4 |
G |
A |
14: 101,731,847 (GRCm39) |
T455M |
probably damaging |
Het |
Tex24 |
C |
T |
8: 27,834,883 (GRCm39) |
T137I |
probably damaging |
Het |
Tmem200a |
A |
C |
10: 25,869,313 (GRCm39) |
S319A |
probably benign |
Het |
Tmem242 |
G |
T |
17: 5,483,745 (GRCm39) |
A99E |
probably damaging |
Het |
Tmem30a |
C |
T |
9: 79,681,446 (GRCm39) |
R277H |
probably benign |
Het |
Tmprss11f |
G |
A |
5: 86,739,269 (GRCm39) |
A4V |
probably benign |
Het |
Triobp |
T |
G |
15: 78,875,640 (GRCm39) |
|
probably null |
Het |
Tshz2 |
A |
T |
2: 169,728,326 (GRCm39) |
Q505L |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,201,657 (GRCm39) |
Y282* |
probably null |
Het |
Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
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 |
|
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'- TTGTCTGTCCCGCATACAGC -3'
(R):5'- TTGGGAAACTTGGTCAGACC -3'
Sequencing Primer
(F):5'- ACTTTGTAGACCAGACTGGC -3'
(R):5'- CTGTCTGTCCCTCAAAATAGAAAGG -3'
|
Posted On |
2014-10-16 |