Incidental Mutation 'IGL00340:Xpot'
| ID |
332342 |
| 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 # |
IGL00340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121441549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 559
(M559L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000217865]
[ENSMUST00000218004]
|
| AlphaFold |
Q9CRT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039810
AA Change: M560L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
AA Change: M560L
| 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 |
probably benign
Transcript: ENSMUST00000217865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218004
AA Change: M559L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219334
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
G |
A |
5: 89,849,525 (GRCm39) |
H632Y |
probably damaging |
Het |
| Adgre5 |
T |
A |
8: 84,455,030 (GRCm39) |
M221L |
probably benign |
Het |
| Apba2 |
A |
T |
7: 64,386,689 (GRCm39) |
I439F |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,371,559 (GRCm39) |
N632K |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,256,417 (GRCm39) |
I60L |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 74,086,666 (GRCm39) |
S56P |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,751,295 (GRCm39) |
D925V |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,102,208 (GRCm39) |
T410A |
probably benign |
Het |
| Cimap3 |
A |
G |
3: 105,921,824 (GRCm39) |
V33A |
probably benign |
Het |
| Ddx60 |
G |
T |
8: 62,411,680 (GRCm39) |
D511Y |
probably damaging |
Het |
| Drc7 |
C |
A |
8: 95,782,629 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,118,933 (GRCm39) |
E1290G |
probably benign |
Het |
| Fam168b |
T |
C |
1: 34,875,883 (GRCm39) |
M1V |
probably null |
Het |
| Farsa |
A |
G |
8: 85,590,886 (GRCm39) |
K208R |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,425,368 (GRCm39) |
|
probably benign |
Het |
| Gm17535 |
A |
T |
9: 3,035,111 (GRCm39) |
H170L |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gm5852 |
T |
C |
3: 93,634,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb2 |
T |
C |
5: 137,528,968 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,494 (GRCm39) |
N143S |
probably damaging |
Het |
| Hcn1 |
C |
A |
13: 117,739,513 (GRCm39) |
Q92K |
unknown |
Het |
| Helb |
T |
C |
10: 119,934,150 (GRCm39) |
I678V |
possibly damaging |
Het |
| Hnrnpl |
C |
A |
7: 28,512,798 (GRCm39) |
A118D |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,784,921 (GRCm39) |
P169S |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,481,904 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,598,051 (GRCm39) |
E57G |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,009 (GRCm39) |
I300T |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,433,053 (GRCm39) |
V1426A |
probably benign |
Het |
| Lrrc39 |
A |
G |
3: 116,364,630 (GRCm39) |
|
probably benign |
Het |
| Mamstr |
G |
A |
7: 45,293,709 (GRCm39) |
V262I |
probably benign |
Het |
| Mob1b |
A |
T |
5: 88,904,014 (GRCm39) |
T217S |
probably benign |
Het |
| Mocs3 |
G |
A |
2: 168,073,411 (GRCm39) |
R286H |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,693,443 (GRCm39) |
Q27L |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,640,981 (GRCm39) |
D506E |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,984,914 (GRCm39) |
I8T |
probably benign |
Het |
| Oma1 |
G |
T |
4: 103,176,565 (GRCm39) |
A110S |
probably benign |
Het |
| Or10a48 |
C |
T |
7: 108,424,280 (GRCm39) |
V309I |
probably benign |
Het |
| Or13a18 |
T |
A |
7: 140,190,666 (GRCm39) |
S196T |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,346 (GRCm39) |
Y131C |
probably damaging |
Het |
| Pde4a |
A |
C |
9: 21,122,357 (GRCm39) |
K694T |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,299,958 (GRCm39) |
|
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,830,578 (GRCm39) |
V187A |
probably damaging |
Het |
| Pigf |
C |
A |
17: 87,327,876 (GRCm39) |
L130F |
probably null |
Het |
| Pkd1 |
G |
T |
17: 24,799,069 (GRCm39) |
V2763L |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,051,107 (GRCm39) |
L230I |
probably damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,561,992 (GRCm39) |
Y76C |
probably damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,568,324 (GRCm39) |
G158V |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,698,924 (GRCm39) |
I1136V |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,412,790 (GRCm39) |
I1770V |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,070,185 (GRCm39) |
I148F |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,268,285 (GRCm39) |
Y239H |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,729 (GRCm39) |
Y412C |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,053 (GRCm39) |
I194V |
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
| Tmem126a |
T |
C |
7: 90,101,963 (GRCm39) |
T79A |
probably benign |
Het |
| Trav9-2 |
A |
T |
14: 53,828,840 (GRCm39) |
Y70F |
probably benign |
Het |
| Tspear |
A |
G |
10: 77,709,070 (GRCm39) |
E432G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,435,580 (GRCm39) |
R403G |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,645,618 (GRCm39) |
S1431R |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,258,336 (GRCm39) |
C1578Y |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,489,652 (GRCm39) |
M473L |
probably benign |
Het |
|
| Other mutations in Xpot |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation