Incidental Mutation 'R5286:Xpo5'
ID |
424379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo5
|
Ensembl Gene |
ENSMUSG00000067150 |
Gene Name |
exportin 5 |
Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
MMRRC Submission |
042870-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5286 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46545406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 824
(N824S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
AlphaFold |
Q924C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
AA Change: N824S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000084257 Gene: ENSMUSG00000067150 AA Change: N824S
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
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (64/64) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,742,358 (GRCm39) |
I417V |
probably benign |
Het |
Adad1 |
T |
C |
3: 37,119,399 (GRCm39) |
V160A |
possibly damaging |
Het |
Adcy7 |
A |
G |
8: 89,051,487 (GRCm39) |
E869G |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,977,242 (GRCm39) |
A4352T |
probably damaging |
Het |
Brd2 |
T |
A |
17: 34,334,205 (GRCm39) |
T286S |
probably damaging |
Het |
Bsn |
G |
T |
9: 107,988,123 (GRCm39) |
|
probably benign |
Het |
Cables1 |
A |
G |
18: 12,057,884 (GRCm39) |
T335A |
probably benign |
Het |
Cacna1d |
A |
T |
14: 30,072,682 (GRCm39) |
S98T |
possibly damaging |
Het |
Ccdc181 |
A |
G |
1: 164,105,810 (GRCm39) |
Y15C |
probably damaging |
Het |
Dlgap4 |
T |
G |
2: 156,587,839 (GRCm39) |
V39G |
probably damaging |
Het |
Epb41l3 |
G |
A |
17: 69,569,268 (GRCm39) |
R504H |
probably benign |
Het |
Fbxo7 |
T |
C |
10: 85,857,954 (GRCm39) |
L23P |
probably damaging |
Het |
Gm42791 |
A |
C |
5: 148,887,178 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
A |
T |
7: 118,582,910 (GRCm39) |
F320I |
possibly damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,262,580 (GRCm39) |
T1093M |
possibly damaging |
Het |
Hddc3 |
G |
T |
7: 79,993,543 (GRCm39) |
R83L |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,055,318 (GRCm39) |
|
probably benign |
Het |
Ift25 |
T |
A |
4: 107,136,998 (GRCm39) |
I132N |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,599 (GRCm39) |
K1656E |
probably benign |
Het |
Itk |
A |
C |
11: 46,228,926 (GRCm39) |
|
probably null |
Het |
Klra6 |
G |
A |
6: 129,995,932 (GRCm39) |
T142I |
probably benign |
Het |
Knop1 |
C |
T |
7: 118,454,993 (GRCm39) |
A3T |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,808,608 (GRCm39) |
H788R |
probably damaging |
Het |
Lrif1 |
A |
G |
3: 106,639,859 (GRCm39) |
R315G |
probably damaging |
Het |
Mfap3l |
A |
G |
8: 61,109,903 (GRCm39) |
D93G |
probably benign |
Het |
Ngef |
T |
C |
1: 87,473,552 (GRCm39) |
S77G |
probably benign |
Het |
Nt5dc3 |
T |
C |
10: 86,640,656 (GRCm39) |
S13P |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,084 (GRCm39) |
V152A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,729,761 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,378,368 (GRCm39) |
Q1041* |
probably null |
Het |
Ppl |
G |
A |
16: 4,906,987 (GRCm39) |
R1103* |
probably null |
Het |
Ppp4r3b |
T |
A |
11: 29,161,667 (GRCm39) |
D680E |
probably benign |
Het |
Rasgrf2 |
T |
G |
13: 92,267,941 (GRCm39) |
K21T |
possibly damaging |
Het |
Rev1 |
T |
A |
1: 38,094,407 (GRCm39) |
K1004* |
probably null |
Het |
Rgs9 |
T |
G |
11: 109,130,277 (GRCm39) |
|
probably null |
Het |
Rnf31 |
T |
C |
14: 55,829,693 (GRCm39) |
L86P |
probably damaging |
Het |
Rps13 |
A |
G |
7: 115,933,155 (GRCm39) |
Y18H |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,958,909 (GRCm39) |
F33S |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,532,428 (GRCm39) |
V2895D |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,187,428 (GRCm39) |
N232S |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,404,140 (GRCm39) |
Y772N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,062,483 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
A |
2: 76,684,530 (GRCm39) |
|
probably benign |
Het |
Vwa3b |
T |
A |
1: 37,084,120 (GRCm39) |
W98R |
probably damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,415,058 (GRCm39) |
D360V |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,541,557 (GRCm39) |
D328E |
probably benign |
Het |
Zbtb2 |
C |
T |
10: 4,318,566 (GRCm39) |
G487S |
possibly 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 |
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'- TACCCATTTGCGGAGAGATGG -3'
(R):5'- TTCTAACGCTTGTCGCACG -3'
Sequencing Primer
(F):5'- GGGAGAAAGGTGTGACAACTTC -3'
(R):5'- GGCCCCTCTACACTAGGATC -3'
|
Posted On |
2016-08-04 |