Incidental Mutation 'IGL03210:Xpot'
| ID |
413292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpot
|
| Ensembl Gene |
ENSMUSG00000034667 |
| Gene Name |
exportin, tRNA (nuclear export receptor for tRNAs) |
| Synonyms |
EXPORTIN-T, 1110004L07Rik, C79645 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL03210
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 121451132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000217865]
[ENSMUST00000218004]
|
| AlphaFold |
Q9CRT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039810
|
| SMART Domains |
Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
21 |
89 |
1.37e-3 |
SMART |
|
Pfam:Xpo1
|
98 |
248 |
5.1e-42 |
PFAM |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(22) : Targeted, other(2) Gene trapped(20) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,141,635 (GRCm39) |
F9L |
probably benign |
Het |
| Adora3 |
T |
C |
3: 105,815,176 (GRCm39) |
S163P |
probably benign |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,846 (GRCm39) |
Q1013* |
probably null |
Het |
| Cacna1b |
A |
T |
2: 24,540,584 (GRCm39) |
F1381Y |
probably benign |
Het |
| Dcdc2b |
T |
C |
4: 129,505,578 (GRCm39) |
K95R |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,034,639 (GRCm39) |
E4186G |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,358,668 (GRCm39) |
V374A |
possibly damaging |
Het |
| Gramd2b |
A |
G |
18: 56,607,170 (GRCm39) |
T95A |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Hmgb4 |
A |
G |
4: 128,154,535 (GRCm39) |
V11A |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,901,098 (GRCm39) |
S933N |
probably benign |
Het |
| Ldlrad3 |
G |
A |
2: 101,900,271 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,390,331 (GRCm39) |
Y1698F |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,279,325 (GRCm39) |
W1078R |
possibly damaging |
Het |
| Nol4l |
G |
A |
2: 153,371,378 (GRCm39) |
P102L |
probably benign |
Het |
| Nsun3 |
A |
G |
16: 62,591,110 (GRCm39) |
F178L |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,457,462 (GRCm39) |
Y55N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,833 (GRCm39) |
E175G |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,312,775 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,440 (GRCm39) |
R310S |
probably benign |
Het |
| Or9g4 |
T |
C |
2: 85,504,697 (GRCm39) |
Y266C |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,247,714 (GRCm39) |
W1074R |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,133,913 (GRCm39) |
T439A |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,915,127 (GRCm39) |
V138L |
unknown |
Het |
| Ptprj |
C |
A |
2: 90,300,070 (GRCm39) |
V244L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,706,607 (GRCm39) |
K697E |
probably damaging |
Het |
| Rp9 |
G |
T |
9: 22,368,724 (GRCm39) |
H78Q |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,530,641 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc29a4 |
A |
T |
5: 142,700,863 (GRCm39) |
M203L |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,727,129 (GRCm39) |
L363I |
possibly damaging |
Het |
| Susd1 |
T |
G |
4: 59,333,035 (GRCm39) |
|
probably null |
Het |
| Thoc3 |
A |
T |
13: 54,614,035 (GRCm39) |
M196K |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,715,880 (GRCm39) |
T881A |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,652,973 (GRCm39) |
V17A |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,560,278 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,643,268 (GRCm39) |
M389V |
probably benign |
Het |
| Utp4 |
T |
A |
8: 107,642,888 (GRCm39) |
H515Q |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,228,834 (GRCm39) |
H223R |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,113 (GRCm39) |
H127L |
possibly damaging |
Het |
| Zscan4e |
T |
A |
7: 11,041,459 (GRCm39) |
M166L |
probably benign |
Het |
|
| Other mutations in Xpot |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Xpot
|
APN |
10 |
121,441,549 (GRCm39) |
missense |
probably benign |
|
|
IGL01286:Xpot
|
APN |
10 |
121,438,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01364:Xpot
|
APN |
10 |
121,440,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01370:Xpot
|
APN |
10 |
121,440,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01516:Xpot
|
APN |
10 |
121,426,127 (GRCm39) |
splice site |
probably null |
|
|
IGL01530:Xpot
|
APN |
10 |
121,447,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02047:Xpot
|
APN |
10 |
121,437,267 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02207:Xpot
|
APN |
10 |
121,449,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02340:Xpot
|
APN |
10 |
121,451,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Xpot
|
APN |
10 |
121,439,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03150:Xpot
|
APN |
10 |
121,445,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Xpot
|
UTSW |
10 |
121,449,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0077:Xpot
|
UTSW |
10 |
121,441,544 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1750:Xpot
|
UTSW |
10 |
121,438,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1806:Xpot
|
UTSW |
10 |
121,443,543 (GRCm39) |
splice site |
probably benign |
|
|
R1950:Xpot
|
UTSW |
10 |
121,455,053 (GRCm39) |
missense |
probably benign |
|
|
R2227:Xpot
|
UTSW |
10 |
121,458,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2304:Xpot
|
UTSW |
10 |
121,447,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3914:Xpot
|
UTSW |
10 |
121,440,443 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4784:Xpot
|
UTSW |
10 |
121,450,968 (GRCm39) |
splice site |
probably null |
|
|
R4884:Xpot
|
UTSW |
10 |
121,442,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Xpot
|
UTSW |
10 |
121,453,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5218:Xpot
|
UTSW |
10 |
121,455,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5361:Xpot
|
UTSW |
10 |
121,436,765 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5651:Xpot
|
UTSW |
10 |
121,440,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5894:Xpot
|
UTSW |
10 |
121,449,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Xpot
|
UTSW |
10 |
121,450,998 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6139:Xpot
|
UTSW |
10 |
121,447,613 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6182:Xpot
|
UTSW |
10 |
121,442,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Xpot
|
UTSW |
10 |
121,449,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7024:Xpot
|
UTSW |
10 |
121,438,304 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7146:Xpot
|
UTSW |
10 |
121,442,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7272:Xpot
|
UTSW |
10 |
121,453,094 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7556:Xpot
|
UTSW |
10 |
121,449,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7882:Xpot
|
UTSW |
10 |
121,454,996 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7916:Xpot
|
UTSW |
10 |
121,458,848 (GRCm39) |
start gained |
probably benign |
|
|
R8087:Xpot
|
UTSW |
10 |
121,437,232 (GRCm39) |
missense |
probably benign |
|
|
R8224:Xpot
|
UTSW |
10 |
121,443,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Xpot
|
UTSW |
10 |
121,447,405 (GRCm39) |
nonsense |
probably null |
|
|
R9036:Xpot
|
UTSW |
10 |
121,447,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Xpot
|
UTSW |
10 |
121,432,149 (GRCm39) |
nonsense |
probably null |
|
|
R9393:Xpot
|
UTSW |
10 |
121,445,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9716:Xpot
|
UTSW |
10 |
121,447,392 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Xpot
|
UTSW |
10 |
121,437,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Xpot
|
UTSW |
10 |
121,453,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation