Incidental Mutation 'R7272:Xpot'
| ID |
565358 |
| 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 |
045391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R7272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121423285-121462237 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 121453094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039810]
[ENSMUST00000217865]
[ENSMUST00000218004]
|
| AlphaFold |
Q9CRT8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039810
|
| SMART Domains |
Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
| 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 null
Transcript: ENSMUST00000218004
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,655 (GRCm39) |
I1020T |
probably benign |
Het |
| 2310057N15Rik |
A |
T |
16: 88,570,523 (GRCm39) |
Y172* |
probably null |
Het |
| 4930558K02Rik |
T |
A |
1: 161,770,092 (GRCm39) |
Y139F |
possibly damaging |
Het |
| A830018L16Rik |
T |
G |
1: 11,658,695 (GRCm39) |
M202R |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,287,591 (GRCm39) |
E2450G |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,736,782 (GRCm39) |
R3034H |
unknown |
Het |
| Anxa9 |
A |
G |
3: 95,213,184 (GRCm39) |
I54T |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,961,941 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,386,066 (GRCm39) |
I570T |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,302,045 (GRCm39) |
I247F |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,829,334 (GRCm39) |
V130A |
probably damaging |
Het |
| Cep89 |
A |
T |
7: 35,137,888 (GRCm39) |
R757S |
probably benign |
Het |
| Cryga |
A |
T |
1: 65,142,381 (GRCm39) |
I4N |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,764 (GRCm39) |
Y194F |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,143 (GRCm39) |
R44H |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,903,511 (GRCm39) |
Q363* |
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,070,848 (GRCm39) |
T64A |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,324,365 (GRCm39) |
S763T |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,804,245 (GRCm39) |
F1169L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,576 (GRCm39) |
L237P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,710 (GRCm39) |
E356G |
probably damaging |
Het |
| Krt33a |
C |
T |
11: 99,902,837 (GRCm39) |
R329Q |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,552 (GRCm39) |
G1657C |
probably damaging |
Het |
| Marchf3 |
T |
G |
18: 56,895,593 (GRCm39) |
R217S |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,978,547 (GRCm39) |
T660S |
probably damaging |
Het |
| Ms4a7 |
T |
A |
19: 11,310,642 (GRCm39) |
K59* |
probably null |
Het |
| Mss51 |
G |
A |
14: 20,534,981 (GRCm39) |
T263I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,385 (GRCm39) |
M199V |
probably benign |
Het |
| Ndufa4 |
G |
A |
6: 11,905,209 (GRCm39) |
Q62* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,214,212 (GRCm39) |
T456A |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,578,120 (GRCm39) |
M1214T |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,718,064 (GRCm39) |
L710F |
probably damaging |
Het |
| Nynrin |
G |
T |
14: 56,107,872 (GRCm39) |
G993V |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,689,695 (GRCm39) |
D296V |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,052,621 (GRCm39) |
Y155N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,153 (GRCm39) |
I3595V |
possibly damaging |
Het |
| Pom121 |
G |
A |
5: 135,409,941 (GRCm39) |
T1072I |
unknown |
Het |
| Sdc1 |
T |
A |
12: 8,840,554 (GRCm39) |
H106Q |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,254,764 (GRCm39) |
D618G |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,878 (GRCm39) |
D755G |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,387 (GRCm39) |
Y783C |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,975,006 (GRCm39) |
|
probably null |
Het |
| Spindoc |
C |
T |
19: 7,360,085 (GRCm39) |
E28K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,064,859 (GRCm39) |
D1880G |
possibly damaging |
Het |
| Sspn |
T |
A |
6: 145,907,200 (GRCm39) |
D210E |
probably benign |
Het |
| Stx12 |
A |
T |
4: 132,584,687 (GRCm39) |
I219K |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,095,417 (GRCm39) |
V508A |
probably benign |
Het |
| Tkt |
G |
T |
14: 30,287,564 (GRCm39) |
R186L |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,860,527 (GRCm39) |
M241K |
probably damaging |
Het |
| Vgll2 |
C |
A |
10: 51,903,758 (GRCm39) |
A207E |
possibly damaging |
Het |
| Vmn1r114 |
A |
G |
7: 20,545,543 (GRCm39) |
F190S |
probably damaging |
Het |
| Yrdc |
G |
A |
4: 124,744,820 (GRCm39) |
A85T |
probably benign |
Het |
| Zfp385c |
C |
T |
11: 100,520,865 (GRCm39) |
R265K |
possibly damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,392,409 (GRCm39) |
I1310F |
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 |
|
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 |
|
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'- CAGAGAGAATGTCTACGCGG -3'
(R):5'- CCTTTAAACAGGGCTTGGGC -3'
Sequencing Primer
(F):5'- GAATGTCTACGCGGTTAGTTTACCAC -3'
(R):5'- AGCCTTTGCCTGGAATTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation