Incidental Mutation 'R4086:Xpo4'
| ID |
317385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
|
| MMRRC Submission |
041625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R4086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57577521-57665430 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 57643033 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000172524]
[ENSMUST00000174152]
[ENSMUST00000174545]
[ENSMUST00000174694]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
| 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: ENSMUST00000172524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174545
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174694
|
| SMART Domains |
Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COS|A
|
91 |
138 |
7e-22 |
PDB |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
626 |
792 |
2.2e-38 |
PFAM |
|
Pfam:Pkinase_Tyr
|
626 |
795 |
2.8e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
G |
A |
2: 3,340,451 (GRCm38) |
|
probably null |
Het |
| Acss3 |
T |
G |
10: 107,053,452 (GRCm38) |
Y169S |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 88,315,786 (GRCm38) |
D427G |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 180,172,834 (GRCm38) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,163,759 (GRCm38) |
I1103M |
probably benign |
Het |
| Arhgap32 |
A |
C |
9: 32,247,066 (GRCm38) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 97,967,204 (GRCm38) |
R767G |
probably damaging |
Het |
| BC046251 |
A |
G |
7: 65,582,148 (GRCm38) |
|
noncoding transcript |
Het |
| Brwd1 |
T |
C |
16: 96,046,372 (GRCm38) |
S683G |
probably benign |
Het |
| Calcoco1 |
C |
G |
15: 102,710,399 (GRCm38) |
|
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,024,461 (GRCm38) |
P834T |
possibly damaging |
Het |
| Cldn34c4 |
A |
T |
X: 127,721,388 (GRCm38) |
V153E |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,461,437 (GRCm38) |
G1090R |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,992,738 (GRCm38) |
I2332F |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,709,789 (GRCm38) |
D30E |
probably damaging |
Het |
| Fam181b |
T |
C |
7: 93,080,580 (GRCm38) |
V187A |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,478,546 (GRCm38) |
R552Q |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,648,286 (GRCm38) |
C53F |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,249,569 (GRCm38) |
Y791C |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,383,525 (GRCm38) |
A163T |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 109,943,255 (GRCm38) |
K458E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,831,656 (GRCm38) |
I1389V |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,388,690 (GRCm38) |
|
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,908,319 (GRCm38) |
T116I |
possibly damaging |
Het |
| Mafa |
T |
G |
15: 75,747,137 (GRCm38) |
K262N |
probably damaging |
Het |
| Nxph4 |
T |
C |
10: 127,526,686 (GRCm38) |
Y112C |
probably damaging |
Het |
| Olfr814 |
A |
G |
10: 129,874,298 (GRCm38) |
V153A |
possibly damaging |
Het |
| Olfr987 |
C |
A |
2: 85,331,826 (GRCm38) |
W24L |
probably benign |
Het |
| Pgls |
G |
A |
8: 71,596,090 (GRCm38) |
A142T |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,347,161 (GRCm38) |
I885V |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,283,868 (GRCm38) |
D544G |
probably damaging |
Het |
| Rnf44 |
T |
C |
13: 54,682,335 (GRCm38) |
N254D |
possibly damaging |
Het |
| Sept10 |
A |
T |
10: 59,192,223 (GRCm38) |
L92* |
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,205,783 (GRCm38) |
I156N |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,449,352 (GRCm38) |
V257A |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,217,676 (GRCm38) |
I123T |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,716,494 (GRCm38) |
D623G |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 193,181,320 (GRCm38) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm38) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,487,800 (GRCm38) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,126,479 (GRCm38) |
Q386* |
probably null |
Het |
| Ube2u |
T |
A |
4: 100,549,842 (GRCm38) |
I187N |
probably benign |
Het |
| Vmn1r90 |
G |
A |
7: 14,563,294 (GRCm38) |
|
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,308,561 (GRCm38) |
M149V |
probably benign |
Het |
| Zbtb21 |
A |
T |
16: 97,952,763 (GRCm38) |
Y135N |
probably damaging |
Het |
| Zbtb22 |
T |
A |
17: 33,918,168 (GRCm38) |
V429D |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,626,121 (GRCm38) |
I279N |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 58,052,921 (GRCm38) |
E643G |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,875,053 (GRCm38) |
H1469Y |
probably benign |
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 |
|
|
IGL02554:Xpo4
|
APN |
14 |
57,590,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTTATAATACTCAGCCCATGC -3'
(R):5'- TCCCCAGAAACCAGTAAAGTGG -3'
Sequencing Primer
(F):5'- GCAAGAAAATGTAAGTTTTGACAGTC -3'
(R):5'- CAGAAACCAGTAAAGTGGACTATGTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation