Incidental Mutation 'IGL03071:Xpo4'
| ID |
417513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
IGL03071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57855685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 248
(I248T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089482
AA Change: I248T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I248T
| 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: I248T
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I248T
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,104 (GRCm39) |
L165H |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,282 (GRCm39) |
I3522T |
possibly damaging |
Het |
| Anks1 |
G |
A |
17: 28,227,173 (GRCm39) |
A609T |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,833,117 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Appl2 |
T |
C |
10: 83,476,970 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,313 (GRCm39) |
I385F |
possibly damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Ccdc134 |
G |
A |
15: 82,018,826 (GRCm39) |
V119M |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,160,165 (GRCm39) |
S60P |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,350,064 (GRCm39) |
F6I |
probably damaging |
Het |
| Cyyr1 |
G |
A |
16: 85,262,449 (GRCm39) |
H103Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,668 (GRCm39) |
S120T |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,513 (GRCm39) |
S994P |
probably benign |
Het |
| Eya4 |
T |
G |
10: 23,198,971 (GRCm39) |
D3A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,649 (GRCm39) |
C574R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 56,902,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
C |
12: 51,815,957 (GRCm39) |
T1377A |
probably benign |
Het |
| Magi3 |
T |
G |
3: 103,923,202 (GRCm39) |
K1172Q |
possibly damaging |
Het |
| Map3k1 |
A |
C |
13: 111,892,059 (GRCm39) |
D1065E |
possibly damaging |
Het |
| Mindy4b-ps |
A |
T |
3: 58,717,158 (GRCm39) |
V242D |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,238,929 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
C |
A |
1: 162,866,766 (GRCm39) |
G657C |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,395 (GRCm39) |
W318R |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,784,502 (GRCm39) |
T47A |
probably benign |
Het |
| Pacsin3 |
G |
A |
2: 91,090,837 (GRCm39) |
R48H |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,229,722 (GRCm39) |
E1114G |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,848 (GRCm39) |
D3226E |
probably benign |
Het |
| Prl4a1 |
A |
T |
13: 28,204,246 (GRCm39) |
E96V |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,315,580 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,291 (GRCm39) |
L685F |
possibly damaging |
Het |
| Spata1 |
A |
G |
3: 146,181,089 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tifa |
T |
G |
3: 127,590,728 (GRCm39) |
Y166* |
probably null |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,769 (GRCm39) |
D277N |
probably damaging |
Het |
| Tram1 |
A |
T |
1: 13,649,998 (GRCm39) |
Y75* |
probably null |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,368 (GRCm39) |
N244I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,182 (GRCm39) |
|
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,022,760 (GRCm39) |
H124Q |
probably benign |
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 |
|
IGL02826:Xpo4
|
APN |
14 |
57,866,877 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2016-08-02 |
Incidental Mutation