Incidental Mutation 'R5294:Xpo5'
| ID |
405333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46547848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 896
(V896A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
| AlphaFold |
Q924C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
AA Change: V896A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: V896A
| 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: ENSMUST00000179407
|
| Meta Mutation Damage Score |
0.1452 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
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 |
|
R5286:Xpo5
|
UTSW |
17 |
46,545,406 (GRCm39) |
missense |
probably benign |
|
|
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'- CTGCCTGGGTTGTACAACTAAC -3'
(R):5'- ACTCCAGAGTGGTCATGCAC -3'
Sequencing Primer
(F):5'- CCTGGGTTGTACAACTAACAGAAAAG -3'
(R):5'- CCTGGACCTGGAGCTTATCAATTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation