Incidental Mutation 'R9046:Xpot'
ID |
688058 |
Institutional Source |
Beutler Lab
|
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 # |
R9046 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 121432149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 916
(C916*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000218004]
|
AlphaFold |
Q9CRT8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039810
AA Change: C916*
|
SMART Domains |
Protein: ENSMUSP00000043488 Gene: ENSMUSG00000034667 AA Change: C916*
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 null
Transcript: ENSMUST00000218004
AA Change: C915*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219334
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
99% (66/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,243,525 (GRCm39) |
V1796A |
probably benign |
Het |
Abca3 |
A |
G |
17: 24,617,477 (GRCm39) |
D1058G |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,323,858 (GRCm39) |
V431A |
probably benign |
Het |
Amdhd1 |
C |
T |
10: 93,363,087 (GRCm39) |
D334N |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,506,642 (GRCm39) |
M252K |
probably benign |
Het |
Anxa3 |
G |
A |
5: 96,976,626 (GRCm39) |
R204Q |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,426,093 (GRCm39) |
T352A |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,850,846 (GRCm39) |
E464G |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,852,740 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
T |
A |
16: 95,829,402 (GRCm39) |
S1100C |
probably damaging |
Het |
Ccm2l |
T |
A |
2: 152,916,720 (GRCm39) |
I317N |
probably damaging |
Het |
Ccr9 |
C |
T |
9: 123,608,831 (GRCm39) |
T171I |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,218,303 (GRCm39) |
|
probably benign |
Het |
Dact1 |
A |
G |
12: 71,365,534 (GRCm39) |
I735V |
probably benign |
Het |
Dok6 |
C |
A |
18: 89,787,221 (GRCm39) |
V14L |
probably benign |
Het |
Dthd1 |
A |
T |
5: 62,984,603 (GRCm39) |
Y436F |
possibly damaging |
Het |
Fndc9 |
G |
T |
11: 46,128,889 (GRCm39) |
W136L |
probably damaging |
Het |
Gal3st1 |
G |
A |
11: 3,948,278 (GRCm39) |
V162I |
probably benign |
Het |
Gart |
A |
G |
16: 91,418,561 (GRCm39) |
S973P |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,476,035 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
G |
A |
17: 45,879,969 (GRCm39) |
P516S |
probably damaging |
Het |
Htr1a |
G |
C |
13: 105,581,816 (GRCm39) |
G352A |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,568,945 (GRCm39) |
T545A |
probably damaging |
Het |
Isg20 |
A |
T |
7: 78,569,823 (GRCm39) |
R265* |
probably null |
Het |
Kcmf1 |
C |
T |
6: 72,825,455 (GRCm39) |
A213T |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,572,540 (GRCm39) |
V1007A |
probably damaging |
Het |
Klhl25 |
A |
G |
7: 75,515,337 (GRCm39) |
E81G |
probably damaging |
Het |
Klhl6 |
C |
A |
16: 19,765,803 (GRCm39) |
V600F |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,285,479 (GRCm39) |
V471A |
probably benign |
Het |
Lap3 |
A |
G |
5: 45,652,562 (GRCm39) |
T53A |
probably damaging |
Het |
Lmntd1 |
A |
T |
6: 145,365,565 (GRCm39) |
I188N |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,302,543 (GRCm39) |
I1868V |
possibly damaging |
Het |
Mef2d |
A |
T |
3: 88,074,825 (GRCm39) |
Y337F |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,474,742 (GRCm39) |
T7A |
possibly damaging |
Het |
Myo3a |
G |
T |
2: 22,448,367 (GRCm39) |
L985F |
probably damaging |
Het |
Myof |
T |
C |
19: 37,923,112 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,376,145 (GRCm39) |
G77S |
probably benign |
Het |
Nostrin |
G |
T |
2: 68,975,123 (GRCm39) |
V13L |
probably benign |
Het |
Nup155 |
TGGG |
TGG |
15: 8,157,919 (GRCm39) |
|
probably null |
Het |
Or14j6 |
A |
G |
17: 38,215,145 (GRCm39) |
K236R |
probably damaging |
Het |
Or3a10 |
T |
C |
11: 73,935,284 (GRCm39) |
D272G |
probably damaging |
Het |
Or4a75 |
C |
T |
2: 89,448,496 (GRCm39) |
|
probably benign |
Het |
Or5b101 |
T |
C |
19: 13,005,115 (GRCm39) |
N193D |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,864,927 (GRCm39) |
K1025T |
probably damaging |
Het |
Parvb |
T |
C |
15: 84,174,639 (GRCm39) |
I144T |
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phf10 |
A |
G |
17: 15,175,160 (GRCm39) |
V195A |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,640,464 (GRCm39) |
M257K |
possibly damaging |
Het |
Ptcd3 |
A |
T |
6: 71,870,364 (GRCm39) |
|
probably null |
Het |
Ptprt |
G |
A |
2: 161,372,361 (GRCm39) |
T1437M |
possibly damaging |
Het |
Ptx3 |
T |
C |
3: 66,132,153 (GRCm39) |
F225L |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,947,435 (GRCm39) |
K50E |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,661,940 (GRCm39) |
N427D |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,530,563 (GRCm39) |
A114T |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,436,725 (GRCm39) |
V35A |
probably damaging |
Het |
Slc22a2 |
G |
A |
17: 12,834,234 (GRCm39) |
A501T |
probably null |
Het |
Slu7 |
G |
A |
11: 43,335,629 (GRCm39) |
C455Y |
probably damaging |
Het |
Src |
C |
A |
2: 157,307,795 (GRCm39) |
H235N |
probably damaging |
Het |
Svopl |
T |
A |
6: 37,998,531 (GRCm39) |
M248L |
probably benign |
Het |
Tbx6 |
G |
A |
7: 126,381,120 (GRCm39) |
|
probably null |
Het |
Tprg1l |
A |
T |
4: 154,242,913 (GRCm39) |
I239N |
probably damaging |
Het |
Trafd1 |
A |
G |
5: 121,513,189 (GRCm39) |
F350L |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,953,585 (GRCm39) |
S145P |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,202,850 (GRCm39) |
F76I |
probably benign |
Het |
Zfp236 |
C |
T |
18: 82,637,042 (GRCm39) |
E1415K |
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 |
|
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 |
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'- CAAGACAAACTGAATGCTATCTGGC -3'
(R):5'- CTACAGTCTTCAGATGGAGAGCTG -3'
Sequencing Primer
(F):5'- AACTGAATGCTATCTGGCTTTCTTG -3'
(R):5'- CTGGGGGCTTTGATTAAGTTGGTAC -3'
|
Posted On |
2021-11-19 |