Incidental Mutation 'R7024:Xpot'
ID |
545848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpot
|
Ensembl Gene |
ENSMUSG00000034667 |
Gene Name |
exportin, tRNA (nuclear export receptor for tRNAs) |
Synonyms |
EXPORTIN-T, 1110004L07Rik, C79645 |
MMRRC Submission |
045125-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R7024 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 121438304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 762
(Q762K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000218004]
|
AlphaFold |
Q9CRT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039810
AA Change: Q763K
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043488 Gene: ENSMUSG00000034667 AA Change: Q763K
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: ENSMUST00000218004
AA Change: Q762K
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219334
|
Meta Mutation Damage Score |
0.0944 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
G |
16: 88,424,108 (GRCm39) |
S128P |
probably damaging |
Het |
Abcc1 |
G |
C |
16: 14,231,247 (GRCm39) |
|
probably null |
Het |
Atg2a |
G |
A |
19: 6,300,249 (GRCm39) |
G686S |
possibly damaging |
Het |
Atrnl1 |
A |
T |
19: 57,626,882 (GRCm39) |
|
probably null |
Het |
Brd4 |
T |
C |
17: 32,440,884 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,658,242 (GRCm39) |
E688G |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,891,271 (GRCm39) |
S1402R |
probably benign |
Het |
Ccnb1 |
A |
G |
13: 100,922,888 (GRCm39) |
|
probably null |
Het |
Cdc42bpb |
G |
A |
12: 111,292,519 (GRCm39) |
H339Y |
probably damaging |
Het |
Ciart |
T |
A |
3: 95,786,392 (GRCm39) |
T94S |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,789,674 (GRCm39) |
K1540* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,574,387 (GRCm39) |
V1969E |
probably damaging |
Het |
Dgka |
T |
G |
10: 128,556,356 (GRCm39) |
N710T |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,731,666 (GRCm39) |
V1212A |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,928,278 (GRCm39) |
V116A |
possibly damaging |
Het |
En1 |
C |
T |
1: 120,531,051 (GRCm39) |
P97L |
unknown |
Het |
Esd |
T |
A |
14: 74,982,102 (GRCm39) |
F172L |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,914,942 (GRCm39) |
D34Y |
probably damaging |
Het |
Gm2832 |
G |
A |
14: 41,001,696 (GRCm39) |
M68I |
|
Het |
Hmgcr |
A |
G |
13: 96,795,418 (GRCm39) |
S384P |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,546 (GRCm39) |
T299A |
possibly damaging |
Het |
Igsf10 |
A |
G |
3: 59,239,122 (GRCm39) |
M353T |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,099,306 (GRCm39) |
T211A |
probably benign |
Het |
Lamb2 |
C |
A |
9: 108,366,687 (GRCm39) |
T1607K |
probably benign |
Het |
Lhfpl5 |
A |
G |
17: 28,801,957 (GRCm39) |
E218G |
probably benign |
Het |
Lpo |
C |
A |
11: 87,707,269 (GRCm39) |
C248F |
probably damaging |
Het |
Lrrc3 |
C |
T |
10: 77,736,825 (GRCm39) |
D204N |
probably damaging |
Het |
Mavs |
C |
A |
2: 131,085,051 (GRCm39) |
L160I |
probably benign |
Het |
Morn4 |
C |
T |
19: 42,066,483 (GRCm39) |
D35N |
possibly damaging |
Het |
Mroh8 |
G |
A |
2: 157,063,183 (GRCm39) |
H813Y |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,330,390 (GRCm39) |
E59G |
probably damaging |
Het |
Nhsl3 |
T |
A |
4: 129,119,201 (GRCm39) |
E173V |
probably null |
Het |
Nlrp10 |
T |
A |
7: 108,524,405 (GRCm39) |
E358D |
possibly damaging |
Het |
Odad2 |
A |
C |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
Optn |
T |
C |
2: 5,057,648 (GRCm39) |
|
probably null |
Het |
Or12e8 |
A |
G |
2: 87,188,066 (GRCm39) |
T93A |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,902,759 (GRCm39) |
I49T |
possibly damaging |
Het |
Or1e1d-ps1 |
T |
A |
11: 73,819,332 (GRCm39) |
L94* |
probably null |
Het |
Or1o1 |
T |
C |
17: 37,717,095 (GRCm39) |
F219L |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,551,952 (GRCm39) |
F68I |
probably damaging |
Het |
Or7g28 |
T |
C |
9: 19,272,579 (GRCm39) |
E24G |
possibly damaging |
Het |
Plxna4 |
T |
A |
6: 32,169,204 (GRCm39) |
H1331L |
probably damaging |
Het |
Poli |
A |
T |
18: 70,649,920 (GRCm39) |
M357K |
possibly damaging |
Het |
Psd4 |
T |
G |
2: 24,284,555 (GRCm39) |
C140G |
possibly damaging |
Het |
Rab3gap1 |
T |
A |
1: 127,818,835 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,681,826 (GRCm39) |
N41S |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,532,407 (GRCm39) |
S532P |
probably benign |
Het |
S100a3 |
T |
A |
3: 90,509,747 (GRCm39) |
|
probably null |
Het |
Sfrp5 |
T |
C |
19: 42,190,204 (GRCm39) |
K83E |
possibly damaging |
Het |
Slco1a4 |
T |
C |
6: 141,780,434 (GRCm39) |
I119V |
probably benign |
Het |
Snx15 |
T |
A |
19: 6,170,626 (GRCm39) |
Q271L |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,178,605 (GRCm39) |
S1128I |
probably damaging |
Het |
Tbc1d7 |
A |
T |
13: 43,308,211 (GRCm39) |
F85I |
probably damaging |
Het |
Thoc7 |
A |
G |
14: 13,953,528 (GRCm38) |
Y46H |
probably damaging |
Het |
Top1mt |
T |
A |
15: 75,539,297 (GRCm39) |
Y366F |
probably damaging |
Het |
Trpv2 |
C |
A |
11: 62,475,287 (GRCm39) |
S233R |
probably benign |
Het |
Vav1 |
C |
A |
17: 57,586,268 (GRCm39) |
T24N |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdfy4 |
G |
T |
14: 32,686,583 (GRCm39) |
|
probably null |
Het |
Wdr3 |
A |
G |
3: 100,062,313 (GRCm39) |
S201P |
probably benign |
Het |
Wfs1 |
C |
T |
5: 37,124,294 (GRCm39) |
D866N |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,942,687 (GRCm39) |
|
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACACCCTACCTTGATTCG -3'
(R):5'- TGACCACTTGTTACTTCTCAAATCG -3'
Sequencing Primer
(F):5'- GATTCGCGATCACTTCACTCATC -3'
(R):5'- ACAGTATGTGTGTCAGCCTAC -3'
|
Posted On |
2019-05-13 |