Incidental Mutation 'R8836:Xpo4'
| ID |
674181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
068664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R8836 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57902367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 16
(E16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000172524]
[ENSMUST00000174152]
[ENSMUST00000174545]
[ENSMUST00000174694]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: E16G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: E16G
| 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 damaging
Transcript: ENSMUST00000172524
AA Change: E16G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174152
AA Change: E16G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174545
AA Change: E16G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: E16G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4m1 |
T |
A |
5: 138,173,061 (GRCm39) |
I134N |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,542,982 (GRCm39) |
V1294A |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,339,029 (GRCm39) |
S160T |
probably damaging |
Het |
| Ccdc7b |
C |
A |
8: 129,857,512 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,767,812 (GRCm39) |
N2436K |
probably damaging |
Het |
| Cradd |
G |
A |
10: 95,158,462 (GRCm39) |
A95V |
probably benign |
Het |
| Cttnbp2 |
T |
G |
6: 18,375,952 (GRCm39) |
E1529A |
probably damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,710,387 (GRCm39) |
I305V |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,411,983 (GRCm39) |
N428K |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,728 (GRCm39) |
S139R |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,093,105 (GRCm39) |
R1073C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,701,498 (GRCm39) |
F23S |
|
Het |
| Enam |
T |
C |
5: 88,639,124 (GRCm39) |
|
probably null |
Het |
| Ezh2 |
A |
T |
6: 47,531,196 (GRCm39) |
C163S |
probably benign |
Het |
| Fam76b |
T |
A |
9: 13,755,381 (GRCm39) |
F329L |
probably benign |
Het |
| Gatad2b |
G |
A |
3: 90,263,507 (GRCm39) |
A535T |
probably damaging |
Het |
| Gm5622 |
T |
A |
14: 51,796,770 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
C |
A |
14: 72,695,830 (GRCm39) |
A1401S |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,509,257 (GRCm39) |
H523L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,288,640 (GRCm39) |
N15I |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,283 (GRCm39) |
Y95F |
probably benign |
Het |
| Htr1f |
C |
A |
16: 64,747,196 (GRCm39) |
G32V |
probably benign |
Het |
| Il18r1 |
C |
A |
1: 40,535,016 (GRCm39) |
Q404K |
probably benign |
Het |
| Izumo3 |
A |
T |
4: 92,033,216 (GRCm39) |
|
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,112,028 (GRCm39) |
I806F |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,902,587 (GRCm39) |
C187F |
probably damaging |
Het |
| Lamp3 |
T |
G |
16: 19,519,788 (GRCm39) |
I132L |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,432,559 (GRCm39) |
Y151* |
probably null |
Het |
| Lztr1 |
T |
C |
16: 17,343,402 (GRCm39) |
L474P |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,130 (GRCm39) |
Y79N |
|
Het |
| Mocs2 |
T |
A |
13: 114,961,760 (GRCm39) |
N80K |
possibly damaging |
Het |
| Mrgbp |
T |
A |
2: 180,224,712 (GRCm39) |
C38S |
probably benign |
Het |
| Ncs1 |
G |
T |
2: 31,136,159 (GRCm39) |
|
probably benign |
Het |
| Or51a10 |
G |
A |
7: 103,699,055 (GRCm39) |
P169S |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,888 (GRCm39) |
N90S |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,709,916 (GRCm39) |
D287G |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,645,621 (GRCm39) |
V236E |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,260 (GRCm39) |
I352V |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,104 (GRCm39) |
T670A |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,243 (GRCm39) |
N1301K |
possibly damaging |
Het |
| Pou2af3 |
A |
G |
9: 51,182,104 (GRCm39) |
L156P |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,886 (GRCm39) |
G276D |
probably damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Pramel17 |
T |
C |
4: 101,693,022 (GRCm39) |
K326R |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,545,523 (GRCm39) |
R1880S |
probably damaging |
Het |
| Rbfox1 |
T |
A |
16: 7,227,605 (GRCm39) |
D373E |
probably benign |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,680,588 (GRCm39) |
E1063D |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,267,941 (GRCm39) |
V939A |
possibly damaging |
Het |
| Relb |
C |
A |
7: 19,345,799 (GRCm39) |
V385L |
possibly damaging |
Het |
| Robo4 |
T |
G |
9: 37,317,130 (GRCm39) |
S482A |
unknown |
Het |
| Ryr1 |
A |
C |
7: 28,774,091 (GRCm39) |
L2426R |
probably damaging |
Het |
| Sass6 |
A |
T |
3: 116,407,598 (GRCm39) |
E238V |
possibly damaging |
Het |
| Ski |
T |
C |
4: 155,245,047 (GRCm39) |
I400V |
probably benign |
Het |
| Slc27a2 |
C |
A |
2: 126,416,656 (GRCm39) |
A336D |
|
Het |
| Slc30a3 |
T |
C |
5: 31,250,668 (GRCm39) |
T12A |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,725,444 (GRCm39) |
V447A |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,098,554 (GRCm39) |
I87F |
probably damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Sytl3 |
C |
A |
17: 6,973,410 (GRCm39) |
T237N |
possibly damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,570 (GRCm39) |
T68A |
probably damaging |
Het |
| Tex56 |
T |
A |
13: 35,116,526 (GRCm39) |
W92R |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,520 (GRCm39) |
C8R |
possibly damaging |
Het |
| Ubxn2b |
A |
T |
4: 6,216,061 (GRCm39) |
Q328L |
probably damaging |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,133 (GRCm39) |
T122A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,648 (GRCm39) |
F982L |
|
Het |
| Zbtb17 |
T |
A |
4: 141,189,233 (GRCm39) |
M51K |
possibly damaging |
Het |
| Zdhhc1 |
A |
G |
8: 106,200,173 (GRCm39) |
F315S |
probably benign |
Het |
| Zfp568 |
C |
T |
7: 29,722,459 (GRCm39) |
T468M |
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 |
|
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 |
|
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 |
|
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'- AGTCTGCCTAGCGAGGTATG -3'
(R):5'- TTCCAGCTGCTCAGGAATCG -3'
Sequencing Primer
(F):5'- TGGCGGCACAGGAAACTCTC -3'
(R):5'- TGCTCAGGAATCGGCGGTC -3'
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| Posted On |
2021-07-15 |
Incidental Mutation