Incidental Mutation 'R0035:Xpo5'
| ID |
19442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2700038C24Rik, 2410004H11Rik |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
17 |
| Chromosomal Location |
46202855-46242299 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46240175 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1001
(T1001A)
|
| 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 benign
Transcript: ENSMUST00000087031
AA Change: T1001A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: T1001A
| 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 |
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
99% (70/71) |
| 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 |
|---|
| 3110040N11Rik |
T |
C |
7: 81,788,549 (GRCm38) |
T20A |
probably benign |
Het |
| 4932438A13Rik |
T |
A |
3: 36,987,598 (GRCm38) |
Y2708* |
probably null |
Het |
| 9130011E15Rik |
A |
T |
19: 45,891,240 (GRCm38) |
M558K |
probably damaging |
Het |
| Aadacl4 |
A |
G |
4: 144,617,941 (GRCm38) |
T96A |
probably damaging |
Het |
| Abcb6 |
A |
G |
1: 75,175,007 (GRCm38) |
V473A |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,843,373 (GRCm38) |
K273N |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,315,779 (GRCm38) |
|
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,699,368 (GRCm38) |
V1142D |
probably benign |
Het |
| Akna |
T |
A |
4: 63,382,445 (GRCm38) |
H591L |
probably benign |
Het |
| Aox2 |
T |
C |
1: 58,354,422 (GRCm38) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,820,664 (GRCm38) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,513,180 (GRCm38) |
V607A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,416,492 (GRCm38) |
P137S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,300,207 (GRCm38) |
E121G |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,916,682 (GRCm38) |
V31A |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,967,549 (GRCm38) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,275,313 (GRCm38) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,565,003 (GRCm38) |
|
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,232,088 (GRCm38) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,672,753 (GRCm38) |
G577R |
unknown |
Het |
| Defa21 |
T |
A |
8: 21,025,768 (GRCm38) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,599,821 (GRCm38) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,683,621 (GRCm38) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,441,075 (GRCm38) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,993,864 (GRCm38) |
F328Y |
probably benign |
Het |
| Golph3 |
A |
T |
15: 12,339,690 (GRCm38) |
E96D |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,083,783 (GRCm38) |
V151A |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,926,497 (GRCm38) |
I144S |
probably damaging |
Het |
| Il1f8 |
A |
T |
2: 24,159,878 (GRCm38) |
H167L |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,473,788 (GRCm38) |
|
probably benign |
Het |
| Il25 |
A |
G |
14: 54,933,096 (GRCm38) |
E42G |
probably damaging |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,129,343 (GRCm38) |
A149V |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,485,621 (GRCm38) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,730,379 (GRCm38) |
N1167D |
probably benign |
Het |
| Lama4 |
T |
A |
10: 39,072,738 (GRCm38) |
D832E |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,435,338 (GRCm38) |
S292P |
probably damaging |
Het |
| Map6 |
C |
T |
7: 99,317,608 (GRCm38) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,284,652 (GRCm38) |
|
probably benign |
Het |
| Me3 |
C |
A |
7: 89,851,759 (GRCm38) |
H559Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,778,382 (GRCm38) |
F574L |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,945,727 (GRCm38) |
S431P |
probably damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,949,573 (GRCm38) |
K208* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,990,367 (GRCm38) |
|
probably null |
Het |
| Obp2b |
T |
C |
2: 25,738,633 (GRCm38) |
L133P |
probably damaging |
Het |
| Olfr173 |
A |
T |
16: 58,797,122 (GRCm38) |
C241* |
probably null |
Het |
| Olfr305 |
T |
C |
7: 86,364,187 (GRCm38) |
D50G |
possibly damaging |
Het |
| Osbp2 |
C |
T |
11: 3,717,997 (GRCm38) |
|
probably benign |
Het |
| Ptafr |
C |
A |
4: 132,579,553 (GRCm38) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,263,508 (GRCm38) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,655,027 (GRCm38) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,762,854 (GRCm38) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,749,932 (GRCm38) |
L781H |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,256,737 (GRCm38) |
I18N |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,841,408 (GRCm38) |
N587D |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,366,776 (GRCm38) |
K1289N |
probably benign |
Het |
| Tspyl3 |
A |
G |
2: 153,224,320 (GRCm38) |
S333P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,356,888 (GRCm38) |
V347I |
probably benign |
Het |
| Usp17le |
G |
T |
7: 104,769,062 (GRCm38) |
S291* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,368,027 (GRCm38) |
S619T |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 108,997,601 (GRCm38) |
|
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,920,205 (GRCm38) |
E102G |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,165,689 (GRCm38) |
V85I |
possibly damaging |
Het |
| Wwp1 |
A |
C |
4: 19,631,116 (GRCm38) |
I639R |
probably damaging |
Het |
| Zc3h12c |
A |
T |
9: 52,143,747 (GRCm38) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,537,282 (GRCm38) |
G912D |
probably damaging |
Het |
|
| Other mutations in Xpo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Xpo5
|
APN |
17 |
46,225,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00650:Xpo5
|
APN |
17 |
46,208,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00785:Xpo5
|
APN |
17 |
46,204,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01869:Xpo5
|
APN |
17 |
46,242,207 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01929:Xpo5
|
APN |
17 |
46,202,929 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02433:Xpo5
|
APN |
17 |
46,239,520 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02550:Xpo5
|
APN |
17 |
46,229,329 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02637:Xpo5
|
APN |
17 |
46,235,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02942:Xpo5
|
APN |
17 |
46,208,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03004:Xpo5
|
APN |
17 |
46,207,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Xpo5
|
APN |
17 |
46,215,814 (GRCm38) |
splice site |
probably null |
|
|
IGL03296:Xpo5
|
APN |
17 |
46,221,394 (GRCm38) |
nonsense |
probably null |
|
|
fortify
|
UTSW |
17 |
46,221,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
fortissimo
|
UTSW |
17 |
46,235,970 (GRCm38) |
missense |
probably benign |
0.36 |
|
PIT4403001:Xpo5
|
UTSW |
17 |
46,239,569 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0009:Xpo5
|
UTSW |
17 |
46,204,786 (GRCm38) |
splice site |
probably benign |
|
|
R0009:Xpo5
|
UTSW |
17 |
46,204,786 (GRCm38) |
splice site |
probably benign |
|
|
R0276:Xpo5
|
UTSW |
17 |
46,241,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0626:Xpo5
|
UTSW |
17 |
46,221,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0843:Xpo5
|
UTSW |
17 |
46,222,650 (GRCm38) |
splice site |
probably benign |
|
|
R1440:Xpo5
|
UTSW |
17 |
46,207,927 (GRCm38) |
splice site |
probably benign |
|
|
R1506:Xpo5
|
UTSW |
17 |
46,227,888 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1513:Xpo5
|
UTSW |
17 |
46,226,980 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2060:Xpo5
|
UTSW |
17 |
46,225,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2258:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2259:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2260:Xpo5
|
UTSW |
17 |
46,240,896 (GRCm38) |
nonsense |
probably null |
|
|
R2263:Xpo5
|
UTSW |
17 |
46,230,343 (GRCm38) |
missense |
probably benign |
|
|
R3016:Xpo5
|
UTSW |
17 |
46,220,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3149:Xpo5
|
UTSW |
17 |
46,242,247 (GRCm38) |
splice site |
probably null |
|
|
R3150:Xpo5
|
UTSW |
17 |
46,242,247 (GRCm38) |
splice site |
probably null |
|
|
R4613:Xpo5
|
UTSW |
17 |
46,236,963 (GRCm38) |
missense |
probably benign |
|
|
R4784:Xpo5
|
UTSW |
17 |
46,222,717 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4808:Xpo5
|
UTSW |
17 |
46,235,970 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4981:Xpo5
|
UTSW |
17 |
46,220,817 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5159:Xpo5
|
UTSW |
17 |
46,217,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5286:Xpo5
|
UTSW |
17 |
46,234,480 (GRCm38) |
missense |
probably benign |
|
|
R5294:Xpo5
|
UTSW |
17 |
46,236,922 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5550:Xpo5
|
UTSW |
17 |
46,234,492 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5750:Xpo5
|
UTSW |
17 |
46,218,630 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5774:Xpo5
|
UTSW |
17 |
46,241,846 (GRCm38) |
nonsense |
probably null |
|
|
R5921:Xpo5
|
UTSW |
17 |
46,221,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6165:Xpo5
|
UTSW |
17 |
46,235,957 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6576:Xpo5
|
UTSW |
17 |
46,240,808 (GRCm38) |
splice site |
probably null |
|
|
R7244:Xpo5
|
UTSW |
17 |
46,214,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:Xpo5
|
UTSW |
17 |
46,221,369 (GRCm38) |
missense |
probably benign |
|
|
R7737:Xpo5
|
UTSW |
17 |
46,236,090 (GRCm38) |
splice site |
probably null |
|
|
R8144:Xpo5
|
UTSW |
17 |
46,208,219 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8752:Xpo5
|
UTSW |
17 |
46,236,912 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8882:Xpo5
|
UTSW |
17 |
46,227,740 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9370:Xpo5
|
UTSW |
17 |
46,235,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0019:Xpo5
|
UTSW |
17 |
46,234,544 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0062:Xpo5
|
UTSW |
17 |
46,230,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo5
|
UTSW |
17 |
46,220,762 (GRCm38) |
missense |
probably benign |
0.11 |
|
Z1177:Xpo5
|
UTSW |
17 |
46,225,124 (GRCm38) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCAATGCTTTTAGTTCAGCCCC -3'
(R):5'- CAGAGGCCAAATACAAGGACTCTGC -3'
Sequencing Primer
(F):5'- GTCATAAGGCAGCTCTGCTAC -3'
(R):5'- GCAGCTATGTTTGTGCATTTAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation