Incidental Mutation 'IGL02554:Xpo4'
| ID |
298443 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
57577521-57665430 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57590088 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 884
(T884A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: T884A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: T884A
| 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: ENSMUST00000174545
AA Change: T884A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: T884A
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,948,003 (GRCm38) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 104,969,452 (GRCm38) |
D204G |
possibly damaging |
Het |
| Acox3 |
C |
A |
5: 35,608,366 (GRCm38) |
L588I |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,880,847 (GRCm38) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,996,347 (GRCm38) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,921,378 (GRCm38) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,992,524 (GRCm38) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,593,015 (GRCm38) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,618,485 (GRCm38) |
G181D |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,240,096 (GRCm38) |
H305Q |
possibly damaging |
Het |
| Cimip4 |
A |
G |
15: 78,378,536 (GRCm38) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,607,760 (GRCm38) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,182,722 (GRCm38) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,618,046 (GRCm38) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,826,596 (GRCm38) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,289,488 (GRCm38) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 120,089,712 (GRCm38) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,559,866 (GRCm38) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,974,168 (GRCm38) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,669,345 (GRCm38) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,283,935 (GRCm38) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,896,787 (GRCm38) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,898,575 (GRCm38) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 56,899,806 (GRCm38) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 125,100,425 (GRCm38) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,189,165 (GRCm38) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,584,913 (GRCm38) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,713,742 (GRCm38) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,391,486 (GRCm38) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,578,500 (GRCm38) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,110,728 (GRCm38) |
S764N |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,181,851 (GRCm38) |
|
probably null |
Het |
| Scnn1b |
T |
C |
7: 121,917,523 (GRCm38) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 63,926,537 (GRCm38) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,348,733 (GRCm38) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 76,110,851 (GRCm38) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,015,594 (GRCm38) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 38,017,043 (GRCm38) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,686,328 (GRCm38) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,751,192 (GRCm38) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,558,780 (GRCm38) |
M56K |
probably damaging |
Het |
| Trip10 |
T |
C |
17: 57,263,135 (GRCm38) |
V544A |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,172,538 (GRCm38) |
E195G |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,409,806 (GRCm38) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,957,373 (GRCm38) |
N255S |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,462,114 (GRCm38) |
N167S |
probably damaging |
Het |
|
| Other mutations in Xpo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01944:Xpo4
|
APN |
14 |
57,604,398 (GRCm38) |
missense |
probably benign |
|
|
IGL02537:Xpo4
|
APN |
14 |
57,593,833 (GRCm38) |
missense |
probably benign |
|
|
IGL02826:Xpo4
|
APN |
14 |
57,629,420 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL03071:Xpo4
|
APN |
14 |
57,618,228 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
PIT4131001:Xpo4
|
UTSW |
14 |
57,584,611 (GRCm38) |
missense |
probably null |
0.98 |
|
R0245:Xpo4
|
UTSW |
14 |
57,630,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0546:Xpo4
|
UTSW |
14 |
57,613,274 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0606:Xpo4
|
UTSW |
14 |
57,638,208 (GRCm38) |
unclassified |
probably benign |
|
|
R0761:Xpo4
|
UTSW |
14 |
57,613,383 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1775:Xpo4
|
UTSW |
14 |
57,603,672 (GRCm38) |
missense |
probably benign |
|
|
R1853:Xpo4
|
UTSW |
14 |
57,585,907 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1923:Xpo4
|
UTSW |
14 |
57,590,871 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2007:Xpo4
|
UTSW |
14 |
57,586,644 (GRCm38) |
missense |
probably null |
0.19 |
|
R2035:Xpo4
|
UTSW |
14 |
57,585,926 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2174:Xpo4
|
UTSW |
14 |
57,590,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2421:Xpo4
|
UTSW |
14 |
57,629,503 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2937:Xpo4
|
UTSW |
14 |
57,604,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2938:Xpo4
|
UTSW |
14 |
57,604,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4066:Xpo4
|
UTSW |
14 |
57,588,054 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4086:Xpo4
|
UTSW |
14 |
57,643,033 (GRCm38) |
intron |
probably benign |
|
|
R4373:Xpo4
|
UTSW |
14 |
57,591,022 (GRCm38) |
nonsense |
probably null |
|
|
R4620:Xpo4
|
UTSW |
14 |
57,630,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Xpo4
|
UTSW |
14 |
57,590,108 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4755:Xpo4
|
UTSW |
14 |
57,618,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4831:Xpo4
|
UTSW |
14 |
57,590,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4905:Xpo4
|
UTSW |
14 |
57,638,289 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4943:Xpo4
|
UTSW |
14 |
57,638,240 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5074:Xpo4
|
UTSW |
14 |
57,584,641 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5279:Xpo4
|
UTSW |
14 |
57,613,409 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5375:Xpo4
|
UTSW |
14 |
57,638,307 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5690:Xpo4
|
UTSW |
14 |
57,590,989 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5936:Xpo4
|
UTSW |
14 |
57,643,499 (GRCm38) |
missense |
probably benign |
|
|
R6393:Xpo4
|
UTSW |
14 |
57,638,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6824:Xpo4
|
UTSW |
14 |
57,613,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6893:Xpo4
|
UTSW |
14 |
57,582,310 (GRCm38) |
missense |
probably benign |
|
|
R6923:Xpo4
|
UTSW |
14 |
57,603,711 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7028:Xpo4
|
UTSW |
14 |
57,597,051 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7442:Xpo4
|
UTSW |
14 |
57,630,223 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7469:Xpo4
|
UTSW |
14 |
57,597,979 (GRCm38) |
missense |
probably benign |
|
|
R7490:Xpo4
|
UTSW |
14 |
57,602,621 (GRCm38) |
frame shift |
probably null |
|
|
R7622:Xpo4
|
UTSW |
14 |
57,597,011 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7667:Xpo4
|
UTSW |
14 |
57,589,959 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7789:Xpo4
|
UTSW |
14 |
57,613,349 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7895:Xpo4
|
UTSW |
14 |
57,602,591 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8000:Xpo4
|
UTSW |
14 |
57,589,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8372:Xpo4
|
UTSW |
14 |
57,597,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8395:Xpo4
|
UTSW |
14 |
57,648,467 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8420:Xpo4
|
UTSW |
14 |
57,604,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8836:Xpo4
|
UTSW |
14 |
57,664,910 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8841:Xpo4
|
UTSW |
14 |
57,597,956 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8989:Xpo4
|
UTSW |
14 |
57,591,018 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9229:Xpo4
|
UTSW |
14 |
57,613,699 (GRCm38) |
missense |
probably benign |
|
|
R9374:Xpo4
|
UTSW |
14 |
57,591,055 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9551:Xpo4
|
UTSW |
14 |
57,591,055 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9628:Xpo4
|
UTSW |
14 |
57,605,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation