Incidental Mutation 'R5690:Xpo4'
| ID |
443646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57828446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 805
(I805V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: I805V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I805V
| 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: I805V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I805V
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
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 |
|
R5375:Xpo4
|
UTSW |
14 |
57,875,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCTTCAGAGATTTGTAATCCTGACAG -3'
(R):5'- CAAATAGTCCTTGTTTTGTGTGCTC -3'
Sequencing Primer
(F):5'- CTTACCTCTCCAAGATAGCATATTTG -3'
(R):5'- TCCTTCTGCCCCAGTGAGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation