Incidental Mutation 'R5279:Xpo4'
ID |
404136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo4
|
Ensembl Gene |
ENSMUSG00000021952 |
Gene Name |
exportin 4 |
Synonyms |
B430309A01Rik |
MMRRC Submission |
042839-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.722)
|
Stock # |
R5279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57850866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 346
(S346I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
AlphaFold |
Q9ESJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: S346I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000086909 Gene: ENSMUSG00000021952 AA Change: S346I
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 |
probably benign
Transcript: ENSMUST00000174545
AA Change: S346I
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133280 Gene: ENSMUSG00000021952 AA Change: S346I
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 |
|
Meta Mutation Damage Score |
0.1099 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
C |
A |
17: 24,508,388 (GRCm39) |
G1049V |
probably damaging |
Het |
Afdn |
G |
A |
17: 14,109,214 (GRCm39) |
R1579H |
probably damaging |
Het |
Ankrd28 |
T |
A |
14: 31,456,963 (GRCm39) |
N386Y |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,580,377 (GRCm39) |
Y1100* |
probably null |
Het |
Atp9b |
T |
A |
18: 80,956,073 (GRCm39) |
E3V |
probably damaging |
Het |
AW554918 |
T |
G |
18: 25,308,488 (GRCm39) |
D60E |
possibly damaging |
Het |
Baz2b |
G |
T |
2: 59,762,496 (GRCm39) |
Q927K |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,957,042 (GRCm39) |
R3659G |
probably damaging |
Het |
C8a |
T |
G |
4: 104,703,185 (GRCm39) |
N291H |
probably damaging |
Het |
Calcoco1 |
G |
A |
15: 102,619,420 (GRCm39) |
L390F |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,739,028 (GRCm39) |
D894G |
probably damaging |
Het |
Cdc20 |
A |
G |
4: 118,290,711 (GRCm39) |
Y430H |
probably damaging |
Het |
Cdc6 |
A |
T |
11: 98,803,088 (GRCm39) |
I316F |
probably damaging |
Het |
Ceacam23 |
T |
A |
7: 17,607,214 (GRCm39) |
|
noncoding transcript |
Het |
Cenpu |
T |
A |
8: 47,031,945 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
A |
4: 128,350,707 (GRCm39) |
V1592D |
probably benign |
Het |
Csmd3 |
G |
T |
15: 48,655,340 (GRCm39) |
|
probably null |
Het |
Dnah7c |
T |
C |
1: 46,558,429 (GRCm39) |
F512L |
probably benign |
Het |
Fam136a |
T |
A |
6: 86,343,686 (GRCm39) |
L61Q |
probably damaging |
Het |
Fpgs |
A |
C |
2: 32,582,779 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,056,881 (GRCm39) |
M309I |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,563,969 (GRCm39) |
T391A |
probably benign |
Het |
Gm11563 |
A |
T |
11: 99,549,539 (GRCm39) |
S72T |
unknown |
Het |
Gon4l |
A |
G |
3: 88,794,944 (GRCm39) |
I716V |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,457,273 (GRCm39) |
V128A |
probably damaging |
Het |
Kat6a |
CGCAGCAGCAGCAGCAGCA |
CGCAGCAGCAGCA |
8: 23,429,664 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,542,368 (GRCm39) |
D1063E |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,823,387 (GRCm39) |
L1453* |
probably null |
Het |
Mcm3ap |
T |
C |
10: 76,343,373 (GRCm39) |
V1755A |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,314,869 (GRCm39) |
S985P |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Nr2c2ap |
G |
A |
8: 70,584,653 (GRCm39) |
D42N |
probably damaging |
Het |
Ntn1 |
A |
G |
11: 68,276,538 (GRCm39) |
S137P |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,186,867 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,430,015 (GRCm39) |
D1210E |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,827,774 (GRCm39) |
L74P |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,573,022 (GRCm39) |
|
probably null |
Het |
Pdia3 |
T |
C |
2: 121,244,484 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
A |
T |
1: 65,235,858 (GRCm39) |
R177* |
probably null |
Het |
Pklr |
A |
G |
3: 89,050,566 (GRCm39) |
E409G |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,463,376 (GRCm39) |
Y154H |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,667 (GRCm39) |
D6E |
probably benign |
Het |
Ptpru |
T |
A |
4: 131,547,334 (GRCm39) |
N205I |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,213 (GRCm39) |
E1006G |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,154,922 (GRCm39) |
V642A |
probably benign |
Het |
Rnf8 |
T |
A |
17: 29,845,680 (GRCm39) |
H104Q |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
C |
11: 75,204,170 (GRCm39) |
N269S |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,757,857 (GRCm39) |
M519T |
probably benign |
Het |
Snx30 |
A |
G |
4: 59,885,070 (GRCm39) |
S237G |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,766 (GRCm39) |
N36S |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,137,416 (GRCm39) |
Y289H |
probably damaging |
Het |
Sugp2 |
T |
C |
8: 70,709,757 (GRCm39) |
|
probably benign |
Het |
Susd4 |
C |
T |
1: 182,715,043 (GRCm39) |
T288I |
probably damaging |
Het |
Tceanc2 |
T |
A |
4: 107,034,826 (GRCm39) |
|
probably null |
Het |
Tm4sf4 |
T |
G |
3: 57,341,159 (GRCm39) |
V97G |
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,256,629 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
C |
T |
8: 47,958,339 (GRCm39) |
|
probably benign |
Het |
Triobp |
G |
T |
15: 78,878,591 (GRCm39) |
V398F |
possibly damaging |
Het |
Ttll9 |
T |
A |
2: 152,804,464 (GRCm39) |
S2T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,320 (GRCm39) |
|
probably benign |
Het |
Tyw3 |
A |
G |
3: 154,300,108 (GRCm39) |
C80R |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,242,621 (GRCm39) |
V1177A |
possibly damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,754 (GRCm39) |
V160A |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,262,146 (GRCm39) |
H328L |
probably benign |
Het |
Vmn2r65 |
A |
C |
7: 84,589,849 (GRCm39) |
I689S |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,731,129 (GRCm39) |
Y1068H |
probably damaging |
Het |
Zc3h3 |
T |
A |
15: 75,711,439 (GRCm39) |
T341S |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,347,419 (GRCm39) |
M260T |
possibly 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 |
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 |
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'- AGTAGCACCAATTTCCTACGGG -3'
(R):5'- GGGCTTGCTCAACACTATTAATGG -3'
Sequencing Primer
(F):5'- TCCTACGGGAAACAGACACAG -3'
(R):5'- TGGCTTAATCCTCATTACTTG -3'
|
Posted On |
2016-07-22 |