Incidental Mutation 'R1506:Xpo5'
| ID |
167961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
| MMRRC Submission |
039554-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46538814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 673
(M673I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
| AlphaFold |
Q924C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
AA Change: M673I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: M673I
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
T |
11: 94,248,144 (GRCm39) |
T1152K |
possibly damaging |
Het |
| Acp3 |
T |
A |
9: 104,201,373 (GRCm39) |
T82S |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,586,973 (GRCm39) |
P445S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,582,651 (GRCm39) |
|
probably benign |
Het |
| Artn |
A |
G |
4: 117,784,058 (GRCm39) |
V136A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,965,806 (GRCm39) |
T2403A |
probably damaging |
Het |
| Bbof1 |
G |
T |
12: 84,470,273 (GRCm39) |
V120L |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,323,928 (GRCm39) |
Y158H |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,863,355 (GRCm39) |
E105G |
probably damaging |
Het |
| Cers4 |
T |
C |
8: 4,570,557 (GRCm39) |
F206L |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,126,479 (GRCm39) |
T78A |
probably benign |
Het |
| Creb3 |
A |
T |
4: 43,566,193 (GRCm39) |
T263S |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,766,443 (GRCm39) |
V384A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,080,994 (GRCm39) |
V879M |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 118,016,213 (GRCm39) |
V14F |
possibly damaging |
Het |
| Epb41l4b |
T |
A |
4: 57,088,824 (GRCm39) |
K144N |
probably damaging |
Het |
| Ercc6 |
A |
T |
14: 32,291,821 (GRCm39) |
I1062F |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,175,090 (GRCm39) |
E1874D |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,977,257 (GRCm39) |
I151F |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,357,007 (GRCm39) |
I33V |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,256,761 (GRCm39) |
|
probably benign |
Het |
| Gpr63 |
G |
A |
4: 25,008,227 (GRCm39) |
R317H |
probably damaging |
Het |
| Grip1 |
C |
A |
10: 119,814,356 (GRCm39) |
H296N |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,465,506 (GRCm39) |
M288K |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,724,509 (GRCm39) |
D488E |
possibly damaging |
Het |
| Gvin3 |
C |
T |
7: 106,200,788 (GRCm39) |
D819N |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,060,576 (GRCm39) |
R2033L |
probably damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,429,004 (GRCm39) |
|
probably null |
Het |
| Ino80 |
A |
T |
2: 119,255,746 (GRCm39) |
L913* |
probably null |
Het |
| Inppl1 |
A |
C |
7: 101,473,174 (GRCm39) |
S1159A |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,140 (GRCm39) |
C122Y |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,620,962 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,574,033 (GRCm39) |
S704C |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,650 (GRCm39) |
C967* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,999,078 (GRCm38) |
|
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,009,951 (GRCm39) |
D342V |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,336 (GRCm39) |
N198S |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,575,014 (GRCm39) |
L105Q |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,091 (GRCm39) |
M39L |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,557,941 (GRCm39) |
V117A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,439 (GRCm39) |
M34T |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,429,001 (GRCm39) |
V694E |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,570,312 (GRCm39) |
A810V |
probably damaging |
Het |
| Rcor1 |
T |
C |
12: 111,076,271 (GRCm39) |
S410P |
probably damaging |
Het |
| Rps14 |
A |
T |
18: 60,909,551 (GRCm39) |
N26I |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc5a1 |
T |
A |
5: 33,312,052 (GRCm39) |
N481K |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,009,683 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
C |
3: 55,024,992 (GRCm39) |
S196P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,394,307 (GRCm39) |
T1701A |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,862,365 (GRCm39) |
N271S |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,228 (GRCm39) |
L366F |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,925,921 (GRCm39) |
T953I |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,753,738 (GRCm39) |
S46P |
probably damaging |
Het |
| Vmn2r18 |
T |
C |
5: 151,499,099 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
A |
3: 64,614,500 (GRCm39) |
Y438F |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,419 (GRCm39) |
K520N |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,176,868 (GRCm39) |
L74P |
probably damaging |
Het |
| Zscan18 |
A |
G |
7: 12,508,129 (GRCm39) |
V457A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTTCAGCTCTCTGAAAGTCAGC -3'
(R):5'- TCCTTGTACACCTCCGTCGAGTAG -3'
Sequencing Primer
(F):5'- GAAAGTCAGCCTTTTTTCTCTGTG -3'
(R):5'- CGTCGAGTAGGGCAACATTTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation