Incidental Mutation 'IGL02826:Xpo4'
| ID |
361216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57866877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 222
(V222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: V222L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: V222L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
37 |
103 |
8e-19 |
BLAST |
|
low complexity region
|
165 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
|
Pfam:CRM1_C
|
954 |
1144 |
6.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174152
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174545
AA Change: V222L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: V222L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
37 |
103 |
8e-19 |
BLAST |
|
low complexity region
|
165 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
|
Pfam:CRM1_C
|
952 |
1143 |
5.2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele appear phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
| Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
| Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
| Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
| Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
| Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably damaging |
Het |
|
| Other mutations in Xpo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01944:Xpo4
|
APN |
14 |
57,841,855 (GRCm39) |
missense |
probably benign |
|
|
IGL02537:Xpo4
|
APN |
14 |
57,831,290 (GRCm39) |
missense |
probably benign |
|
|
IGL02554:Xpo4
|
APN |
14 |
57,827,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03071:Xpo4
|
APN |
14 |
57,855,685 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT4131001:Xpo4
|
UTSW |
14 |
57,822,068 (GRCm39) |
missense |
probably null |
0.98 |
|
R0245:Xpo4
|
UTSW |
14 |
57,867,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Xpo4
|
UTSW |
14 |
57,850,731 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0606:Xpo4
|
UTSW |
14 |
57,875,665 (GRCm39) |
unclassified |
probably benign |
|
|
R0761:Xpo4
|
UTSW |
14 |
57,850,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1775:Xpo4
|
UTSW |
14 |
57,841,129 (GRCm39) |
missense |
probably benign |
|
|
R1853:Xpo4
|
UTSW |
14 |
57,823,364 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1923:Xpo4
|
UTSW |
14 |
57,828,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2007:Xpo4
|
UTSW |
14 |
57,824,101 (GRCm39) |
missense |
probably null |
0.19 |
|
R2035:Xpo4
|
UTSW |
14 |
57,823,383 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2174:Xpo4
|
UTSW |
14 |
57,827,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Xpo4
|
UTSW |
14 |
57,866,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2937:Xpo4
|
UTSW |
14 |
57,841,897 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2938:Xpo4
|
UTSW |
14 |
57,841,897 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4066:Xpo4
|
UTSW |
14 |
57,825,511 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4086:Xpo4
|
UTSW |
14 |
57,880,490 (GRCm39) |
intron |
probably benign |
|
|
R4373:Xpo4
|
UTSW |
14 |
57,828,479 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Xpo4
|
UTSW |
14 |
57,867,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Xpo4
|
UTSW |
14 |
57,827,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4755:Xpo4
|
UTSW |
14 |
57,855,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:Xpo4
|
UTSW |
14 |
57,827,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Xpo4
|
UTSW |
14 |
57,875,746 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4943:Xpo4
|
UTSW |
14 |
57,875,697 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5074:Xpo4
|
UTSW |
14 |
57,822,098 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5279:Xpo4
|
UTSW |
14 |
57,850,866 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5375:Xpo4
|
UTSW |
14 |
57,875,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5690:Xpo4
|
UTSW |
14 |
57,828,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5936:Xpo4
|
UTSW |
14 |
57,880,956 (GRCm39) |
missense |
probably benign |
|
|
R6393:Xpo4
|
UTSW |
14 |
57,875,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6824:Xpo4
|
UTSW |
14 |
57,850,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6893:Xpo4
|
UTSW |
14 |
57,819,767 (GRCm39) |
missense |
probably benign |
|
|
R6923:Xpo4
|
UTSW |
14 |
57,841,168 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7028:Xpo4
|
UTSW |
14 |
57,834,508 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7442:Xpo4
|
UTSW |
14 |
57,867,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Xpo4
|
UTSW |
14 |
57,835,436 (GRCm39) |
missense |
probably benign |
|
|
R7490:Xpo4
|
UTSW |
14 |
57,840,078 (GRCm39) |
frame shift |
probably null |
|
|
R7622:Xpo4
|
UTSW |
14 |
57,834,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7667:Xpo4
|
UTSW |
14 |
57,827,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7789:Xpo4
|
UTSW |
14 |
57,850,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7895:Xpo4
|
UTSW |
14 |
57,840,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8000:Xpo4
|
UTSW |
14 |
57,827,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Xpo4
|
UTSW |
14 |
57,835,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8395:Xpo4
|
UTSW |
14 |
57,885,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8420:Xpo4
|
UTSW |
14 |
57,841,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Xpo4
|
UTSW |
14 |
57,902,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8841:Xpo4
|
UTSW |
14 |
57,835,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8989:Xpo4
|
UTSW |
14 |
57,828,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9229:Xpo4
|
UTSW |
14 |
57,851,156 (GRCm39) |
missense |
probably benign |
|
|
R9374:Xpo4
|
UTSW |
14 |
57,828,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9551:Xpo4
|
UTSW |
14 |
57,828,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9628:Xpo4
|
UTSW |
14 |
57,842,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation