Incidental Mutation 'R5375:Xpo4'
| ID |
429035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
042951-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R5375 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57875764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000172524]
[ENSMUST00000174152]
[ENSMUST00000174545]
[ENSMUST00000174694]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089482
AA Change: V123A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: V123A
| 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: ENSMUST00000173940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174152
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174545
AA Change: V123A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: V123A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
T |
A |
12: 4,260,870 (GRCm39) |
N995K |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,361,233 (GRCm39) |
M60T |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,505,809 (GRCm39) |
H70Q |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,207 (GRCm39) |
I5N |
possibly damaging |
Het |
| Blm |
T |
C |
7: 80,162,977 (GRCm39) |
T125A |
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,759,826 (GRCm39) |
|
probably benign |
Het |
| Calcr |
G |
T |
6: 3,714,651 (GRCm39) |
Q160K |
probably benign |
Het |
| Ccdc43 |
C |
T |
11: 102,581,058 (GRCm39) |
A131T |
probably damaging |
Het |
| Cdh15 |
A |
T |
8: 123,591,839 (GRCm39) |
N575Y |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,611 (GRCm39) |
D827G |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,387,059 (GRCm39) |
|
probably null |
Het |
| Creb5 |
A |
T |
6: 53,658,002 (GRCm39) |
M255L |
possibly damaging |
Het |
| Cst8 |
A |
G |
2: 148,646,503 (GRCm39) |
I78V |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,459,664 (GRCm39) |
E440G |
possibly damaging |
Het |
| Cyp2b9 |
A |
C |
7: 25,887,167 (GRCm39) |
D192A |
probably damaging |
Het |
| Dclre1b |
C |
T |
3: 103,711,290 (GRCm39) |
R207H |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,100,838 (GRCm39) |
F1936L |
probably damaging |
Het |
| Dpp9 |
A |
C |
17: 56,496,424 (GRCm39) |
Y761* |
probably null |
Het |
| Drc1 |
A |
T |
5: 30,513,745 (GRCm39) |
M434L |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,397 (GRCm39) |
I403N |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,809,401 (GRCm39) |
K1658* |
probably null |
Het |
| Efcab9 |
A |
G |
11: 32,477,484 (GRCm39) |
Y13H |
probably damaging |
Het |
| Efhb |
T |
A |
17: 53,708,654 (GRCm39) |
N672I |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,084,835 (GRCm39) |
V894A |
possibly damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,135 (GRCm39) |
F237S |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,093,802 (GRCm39) |
D637E |
probably damaging |
Het |
| Erbb2 |
C |
A |
11: 98,324,238 (GRCm39) |
P742Q |
probably damaging |
Het |
| Fam234b |
C |
A |
6: 135,210,355 (GRCm39) |
L584M |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,545,673 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,153,646 (GRCm39) |
H3522R |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,842,945 (GRCm39) |
N147D |
possibly damaging |
Het |
| Gm26657 |
A |
G |
4: 56,741,180 (GRCm39) |
|
probably benign |
Het |
| Hcrtr1 |
C |
T |
4: 130,029,518 (GRCm39) |
V188M |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,375,169 (GRCm39) |
V3331A |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,320,453 (GRCm39) |
V3978A |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,385,262 (GRCm39) |
R202K |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,314,469 (GRCm39) |
S156N |
probably benign |
Het |
| Mras |
T |
G |
9: 99,276,669 (GRCm39) |
D67A |
probably damaging |
Het |
| Mrpl39 |
A |
G |
16: 84,520,790 (GRCm39) |
L283P |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,275,915 (GRCm39) |
I110N |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,596 (GRCm39) |
D544G |
possibly damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,617 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or10a2 |
T |
A |
7: 106,673,080 (GRCm39) |
M15K |
probably benign |
Het |
| Or1j13 |
A |
G |
2: 36,369,309 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,248 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,442 (GRCm39) |
K273R |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf11d |
T |
C |
14: 59,590,120 (GRCm39) |
D234G |
probably null |
Het |
| Polq |
A |
T |
16: 36,903,146 (GRCm39) |
D1980V |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,437,022 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,791 (GRCm39) |
V69A |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,640 (GRCm39) |
I260T |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,020,017 (GRCm39) |
L628H |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,525,730 (GRCm39) |
V323A |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,611,723 (GRCm39) |
S565P |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,564 (GRCm39) |
D160N |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Trp53inp1 |
A |
G |
4: 11,165,305 (GRCm39) |
T110A |
probably benign |
Het |
| Ttll9 |
G |
T |
2: 152,826,144 (GRCm39) |
C118F |
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,719,422 (GRCm39) |
L42P |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,250 (GRCm39) |
N1497I |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,477,485 (GRCm39) |
T3367S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,615,813 (GRCm39) |
E1782G |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,973 (GRCm39) |
C106S |
possibly damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,062,812 (GRCm39) |
T624A |
probably benign |
Het |
| Zmiz2 |
C |
T |
11: 6,347,519 (GRCm39) |
Q276* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCACATTAGTTTGCATGCC -3'
(R):5'- CAGCTGACCAAGTGTCTGAG -3'
Sequencing Primer
(F):5'- GTTTGCATGCCTTTCTTTTATACTAC -3'
(R):5'- AGCTGACCAAGTGTCTGAGTCTTTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation