Incidental Mutation 'IGL02340:Xpot'
| ID |
289015 |
| 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: 0.954)
|
| Stock # |
IGL02340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121451109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 97
(E97V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000217865]
[ENSMUST00000218004]
|
| AlphaFold |
Q9CRT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039810
AA Change: E97V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
AA Change: E97V
| 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 damaging
Transcript: ENSMUST00000218004
AA Change: E97V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
A |
7: 27,328,824 (GRCm39) |
I182N |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,728,255 (GRCm39) |
T462A |
probably benign |
Het |
| Amz1 |
A |
G |
5: 140,738,014 (GRCm39) |
R425G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,217,201 (GRCm39) |
E428G |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,396,762 (GRCm39) |
H216Q |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,086 (GRCm39) |
Y591C |
probably damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,178 (GRCm39) |
L164S |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,581,474 (GRCm39) |
I431T |
possibly damaging |
Het |
| Fam234b |
T |
C |
6: 135,208,659 (GRCm39) |
L524P |
probably damaging |
Het |
| Fmo1 |
T |
C |
1: 162,660,559 (GRCm39) |
N410S |
probably benign |
Het |
| Ftsj3 |
G |
A |
11: 106,143,972 (GRCm39) |
R251* |
probably null |
Het |
| Greb1l |
A |
T |
18: 10,515,200 (GRCm39) |
D555V |
probably damaging |
Het |
| Hcar1 |
G |
T |
5: 124,017,135 (GRCm39) |
H185Q |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,319 (GRCm39) |
V206I |
probably benign |
Het |
| Lamc3 |
G |
A |
2: 31,808,469 (GRCm39) |
G742S |
probably damaging |
Het |
| Lipg |
T |
C |
18: 75,093,946 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,839,729 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
T |
G |
10: 76,332,386 (GRCm39) |
Y1234* |
probably null |
Het |
| Myh6 |
T |
A |
14: 55,194,612 (GRCm39) |
D719V |
possibly damaging |
Het |
| Myo9b |
A |
G |
8: 71,743,689 (GRCm39) |
N250S |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,070,858 (GRCm39) |
E270G |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,054,652 (GRCm39) |
W2438* |
probably null |
Het |
| Nphp1 |
G |
A |
2: 127,621,987 (GRCm39) |
Q47* |
probably null |
Het |
| Nptx2 |
T |
C |
5: 144,493,056 (GRCm39) |
L381P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,171,402 (GRCm39) |
N911S |
possibly damaging |
Het |
| Or10j2 |
A |
T |
1: 173,097,972 (GRCm39) |
I77F |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,169,906 (GRCm39) |
|
probably benign |
Het |
| P4ha1 |
T |
A |
10: 59,188,023 (GRCm39) |
F260Y |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,268,676 (GRCm39) |
D504G |
probably damaging |
Het |
| Prss54 |
A |
G |
8: 96,292,237 (GRCm39) |
V114A |
probably benign |
Het |
| Ptprc |
G |
A |
1: 137,998,957 (GRCm39) |
T1031M |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,310,511 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,777,349 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
C |
T |
18: 78,206,341 (GRCm39) |
E492K |
probably damaging |
Het |
| Stab1 |
G |
T |
14: 30,862,367 (GRCm39) |
N2322K |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,087,369 (GRCm39) |
N1162S |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,810,090 (GRCm39) |
I297V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,972,775 (GRCm39) |
N276D |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,428,118 (GRCm39) |
|
probably benign |
Het |
| Vmn1r115 |
T |
A |
7: 20,578,453 (GRCm39) |
H153L |
possibly damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,997 (GRCm39) |
C259* |
probably null |
Het |
| Zbtb2 |
T |
C |
10: 4,318,712 (GRCm39) |
D438G |
probably damaging |
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 |
|
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 |
|
IGL03210:Xpot
|
APN |
10 |
121,451,132 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation