Incidental Mutation 'R6182:Xpot'
| ID |
487047 |
| 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 |
044324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121442163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 550
(R550S)
|
| 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: R551S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
AA Change: R551S
| 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 damaging
Transcript: ENSMUST00000218004
AA Change: R550S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218973
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,074,489 (GRCm39) |
S884P |
probably benign |
Het |
| Akap13 |
C |
A |
7: 75,236,028 (GRCm39) |
A201E |
probably benign |
Het |
| Ces1f |
T |
G |
8: 93,983,124 (GRCm39) |
E540A |
probably benign |
Het |
| Chid1 |
T |
A |
7: 141,108,415 (GRCm39) |
M137L |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,312,414 (GRCm39) |
T296A |
probably benign |
Het |
| Clec4f |
A |
G |
6: 83,622,284 (GRCm39) |
V519A |
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,009 (GRCm39) |
F41I |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,183,390 (GRCm39) |
D32G |
probably benign |
Het |
| Ctsl |
T |
C |
13: 64,515,786 (GRCm39) |
Y95C |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,036,005 (GRCm39) |
M302V |
probably benign |
Het |
| Cyp2c65 |
C |
G |
19: 39,049,606 (GRCm39) |
L45V |
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,006,661 (GRCm39) |
Q693* |
probably null |
Het |
| Dgcr8 |
A |
T |
16: 18,098,172 (GRCm39) |
D406E |
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,179,476 (GRCm39) |
P1760Q |
probably damaging |
Het |
| Epb41l2 |
G |
A |
10: 25,383,715 (GRCm39) |
R940H |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,039,210 (GRCm39) |
D951A |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,723,078 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,555,390 (GRCm39) |
I1716F |
probably damaging |
Het |
| Fus |
A |
G |
7: 127,576,465 (GRCm39) |
D295G |
probably damaging |
Het |
| Gm5093 |
A |
G |
17: 46,750,568 (GRCm39) |
I153T |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,265,342 (GRCm39) |
V318A |
possibly damaging |
Het |
| Gpc2 |
T |
C |
5: 138,276,676 (GRCm39) |
D150G |
probably benign |
Het |
| Gsc2 |
A |
G |
16: 17,731,483 (GRCm39) |
*215R |
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,857,476 (GRCm39) |
S552P |
probably damaging |
Het |
| Katnal1 |
C |
A |
5: 148,841,407 (GRCm39) |
K152N |
possibly damaging |
Het |
| Kcnh1 |
A |
T |
1: 191,873,361 (GRCm39) |
T16S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,101 (GRCm39) |
D105G |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,874,564 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
G |
A |
1: 162,893,612 (GRCm39) |
Q188* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,246,469 (GRCm39) |
S81G |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,350,130 (GRCm39) |
M628L |
probably benign |
Het |
| Odad3 |
A |
G |
9: 21,901,698 (GRCm39) |
F553S |
probably damaging |
Het |
| Or1o1 |
T |
A |
17: 37,716,883 (GRCm39) |
I148K |
possibly damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,655 (GRCm39) |
Y185H |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,206 (GRCm39) |
I506V |
probably benign |
Het |
| Pate4 |
A |
T |
9: 35,519,586 (GRCm39) |
S35T |
possibly damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,815,555 (GRCm39) |
E1452G |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,872,420 (GRCm39) |
D239G |
probably benign |
Het |
| Ppef2 |
C |
T |
5: 92,374,925 (GRCm39) |
V728M |
probably damaging |
Het |
| Rasip1 |
TGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGC |
7: 45,277,879 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
C |
A |
12: 104,115,690 (GRCm39) |
V285L |
probably benign |
Het |
| Serpinb9f |
T |
C |
13: 33,518,405 (GRCm39) |
S302P |
probably damaging |
Het |
| Sis |
C |
T |
3: 72,811,626 (GRCm39) |
V1642I |
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,674,531 (GRCm39) |
L601F |
probably damaging |
Het |
| Slc39a6 |
G |
T |
18: 24,734,013 (GRCm39) |
N225K |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,497 (GRCm39) |
R291* |
probably null |
Het |
| Spin1 |
C |
T |
13: 51,298,374 (GRCm39) |
T131I |
probably benign |
Het |
| St18 |
T |
G |
1: 6,914,342 (GRCm39) |
|
probably null |
Het |
| Stox1 |
A |
G |
10: 62,500,721 (GRCm39) |
L613P |
probably damaging |
Het |
| Tgm3 |
T |
G |
2: 129,867,221 (GRCm39) |
Y155* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,402 (GRCm39) |
I809V |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,927,033 (GRCm39) |
D831V |
probably damaging |
Het |
| Ttll13 |
A |
T |
7: 79,909,981 (GRCm39) |
E762D |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,601,015 (GRCm39) |
V937E |
probably damaging |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,312 (GRCm39) |
I142T |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,250,507 (GRCm39) |
M588T |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,957 (GRCm39) |
V761A |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,832 (GRCm39) |
G665W |
probably damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,943 (GRCm39) |
T33A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,226,764 (GRCm39) |
T274A |
probably benign |
Het |
| Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,940 (GRCm39) |
C859S |
probably damaging |
Het |
| Zscan4c |
T |
C |
7: 10,740,709 (GRCm39) |
M76T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATATGCACCGTGGCCTAGG -3'
(R):5'- CAGAATTGTAGTACGGTGCTGG -3'
Sequencing Primer
(F):5'- TCAGTCTCAGCACGTGGAC -3'
(R):5'- AGCGAGTTCCATGACAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation