Incidental Mutation 'R2035:Xpo4'
ID |
224533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo4
|
Ensembl Gene |
ENSMUSG00000021952 |
Gene Name |
exportin 4 |
Synonyms |
B430309A01Rik |
MMRRC Submission |
040042-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.722)
|
Stock # |
R2035 (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 T
at 57823383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1036
(C1036S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174545]
|
AlphaFold |
Q9ESJ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089482
AA Change: C1036S
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000086909 Gene: ENSMUSG00000021952 AA Change: C1036S
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: C1036S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133280 Gene: ENSMUSG00000021952 AA Change: C1036S
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,760,761 (GRCm39) |
*1273Q |
probably null |
Het |
Aars2 |
A |
G |
17: 45,825,727 (GRCm39) |
I348V |
possibly damaging |
Het |
Abca8b |
G |
A |
11: 109,847,932 (GRCm39) |
R788C |
possibly damaging |
Het |
Abhd15 |
T |
C |
11: 77,406,536 (GRCm39) |
L171P |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,480,581 (GRCm39) |
H686L |
probably benign |
Het |
Acsl1 |
A |
G |
8: 46,981,621 (GRCm39) |
Y456C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,624 (GRCm39) |
V2561D |
probably benign |
Het |
B3galnt2 |
T |
A |
13: 14,140,909 (GRCm39) |
F44I |
probably benign |
Het |
Bicra |
A |
T |
7: 15,730,338 (GRCm39) |
H24Q |
possibly damaging |
Het |
Ccdc163 |
T |
C |
4: 116,568,530 (GRCm39) |
S195P |
probably damaging |
Het |
Cd163 |
A |
T |
6: 124,297,588 (GRCm39) |
K911N |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Dctn4 |
T |
A |
18: 60,671,489 (GRCm39) |
D120E |
possibly damaging |
Het |
Dnali1 |
C |
T |
4: 124,952,903 (GRCm39) |
V207M |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,354,128 (GRCm39) |
Q3036R |
probably damaging |
Het |
Dst |
G |
A |
1: 34,310,494 (GRCm39) |
R4098H |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,760,525 (GRCm39) |
N1741K |
probably benign |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,273,639 (GRCm39) |
S374C |
probably damaging |
Het |
Ess2 |
A |
G |
16: 17,727,950 (GRCm39) |
|
probably null |
Het |
F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
Gm4841 |
T |
G |
18: 60,402,929 (GRCm39) |
Y388S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,771,336 (GRCm39) |
T479A |
probably damaging |
Het |
Gucy2e |
C |
A |
11: 69,118,358 (GRCm39) |
V743L |
probably benign |
Het |
Il33 |
T |
A |
19: 29,932,037 (GRCm39) |
N143K |
probably damaging |
Het |
Ism1 |
T |
A |
2: 139,599,075 (GRCm39) |
S349R |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,383,033 (GRCm39) |
D134E |
probably damaging |
Het |
Kcnk1 |
A |
C |
8: 126,752,108 (GRCm39) |
N238T |
possibly damaging |
Het |
Kcnu1 |
G |
T |
8: 26,386,721 (GRCm39) |
V535L |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,776,599 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
A |
T |
14: 103,497,675 (GRCm39) |
Y966N |
probably damaging |
Het |
Myo19 |
A |
T |
11: 84,788,434 (GRCm39) |
M349L |
probably benign |
Het |
Narf |
G |
A |
11: 121,129,326 (GRCm39) |
A37T |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,161,491 (GRCm39) |
N208D |
probably benign |
Het |
Nr1i2 |
A |
G |
16: 38,071,488 (GRCm39) |
|
probably null |
Het |
Opn5 |
A |
G |
17: 42,918,052 (GRCm39) |
I70T |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,463 (GRCm39) |
H178Q |
probably damaging |
Het |
Or7a38 |
T |
C |
10: 78,753,421 (GRCm39) |
V249A |
possibly damaging |
Het |
Pkn2 |
G |
T |
3: 142,526,348 (GRCm39) |
P410T |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,080 (GRCm39) |
N1337S |
probably damaging |
Het |
Prkd3 |
A |
T |
17: 79,282,802 (GRCm39) |
|
probably null |
Het |
Pum2 |
T |
A |
12: 8,778,638 (GRCm39) |
Y429* |
probably null |
Het |
Resf1 |
G |
A |
6: 149,230,724 (GRCm39) |
V1257I |
possibly damaging |
Het |
Rttn |
T |
A |
18: 89,038,340 (GRCm39) |
V812E |
probably damaging |
Het |
Rufy2 |
T |
A |
10: 62,842,526 (GRCm39) |
L483H |
probably damaging |
Het |
Slc35a3 |
T |
A |
3: 116,480,972 (GRCm39) |
Q97L |
probably damaging |
Het |
St18 |
A |
T |
1: 6,872,552 (GRCm39) |
M96L |
probably benign |
Het |
Strc |
G |
A |
2: 121,205,415 (GRCm39) |
A905V |
probably damaging |
Het |
Syne3 |
T |
C |
12: 104,924,386 (GRCm39) |
M338V |
probably benign |
Het |
Syngr2 |
A |
G |
11: 117,704,186 (GRCm39) |
D187G |
probably benign |
Het |
Tas2r109 |
A |
C |
6: 132,957,423 (GRCm39) |
I169R |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,275,266 (GRCm39) |
|
probably null |
Het |
Thbs1 |
T |
A |
2: 117,948,821 (GRCm39) |
|
probably null |
Het |
Them6 |
C |
A |
15: 74,593,524 (GRCm39) |
D127E |
probably damaging |
Het |
Tmem132d |
T |
C |
5: 127,869,522 (GRCm39) |
D604G |
probably damaging |
Het |
Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
Topors |
T |
C |
4: 40,262,879 (GRCm39) |
N135S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,645,752 (GRCm39) |
D1476V |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,573 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,403,732 (GRCm39) |
T87S |
probably benign |
Het |
Vmn1r202 |
C |
A |
13: 22,685,772 (GRCm39) |
R215L |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,019 (GRCm39) |
N782I |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,332,438 (GRCm39) |
F404L |
possibly damaging |
Het |
Yae1d1 |
T |
C |
13: 18,164,306 (GRCm39) |
N104D |
probably benign |
Het |
Zan |
C |
A |
5: 137,442,209 (GRCm39) |
R1901L |
unknown |
Het |
Zbtb9 |
G |
A |
17: 27,193,897 (GRCm39) |
R434H |
probably damaging |
Het |
Zdhhc23 |
A |
C |
16: 43,793,871 (GRCm39) |
C268G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCCCTCGTATTCTATAACTGAG -3'
(R):5'- GAGACACTGCAATCTGGCCTAC -3'
Sequencing Primer
(F):5'- TTCTATAACTGAGCCTAGACTGAGCC -3'
(R):5'- CTGTATTCCTAGCTACAAAAAGTCC -3'
|
Posted On |
2014-08-25 |