Incidental Mutation 'R4943:Xpo4'
| ID |
383298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
042540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R4943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57875697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 145
(I145M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000172524]
[ENSMUST00000174152]
[ENSMUST00000174545]
[ENSMUST00000174694]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089482
AA Change: I145M
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I145M
| 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 |
possibly damaging
Transcript: ENSMUST00000174545
AA Change: I145M
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I145M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
99% (81/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,393,446 (GRCm39) |
T366K |
possibly damaging |
Het |
| 2510039O18Rik |
T |
A |
4: 148,029,555 (GRCm39) |
H508Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,504,290 (GRCm39) |
E287V |
probably benign |
Het |
| Actl9 |
G |
A |
17: 33,652,059 (GRCm39) |
V40M |
possibly damaging |
Het |
| Aen |
T |
A |
7: 78,552,109 (GRCm39) |
V23E |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,069,764 (GRCm39) |
R432K |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,398,988 (GRCm39) |
F2689I |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,862,337 (GRCm39) |
S475G |
probably benign |
Het |
| Atg7 |
A |
C |
6: 114,674,045 (GRCm39) |
Q231P |
probably benign |
Het |
| Calr3 |
A |
T |
8: 73,185,221 (GRCm39) |
V226D |
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
| Cops4 |
A |
T |
5: 100,695,292 (GRCm39) |
M404L |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,896,972 (GRCm39) |
H375L |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,372,877 (GRCm39) |
V20D |
probably damaging |
Het |
| Dcun1d5 |
T |
C |
9: 7,186,844 (GRCm39) |
F55L |
possibly damaging |
Het |
| Dhx8 |
T |
A |
11: 101,628,526 (GRCm39) |
L93* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,478,424 (GRCm39) |
L53P |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,481 (GRCm39) |
R659H |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,812,092 (GRCm39) |
A1392T |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,169,859 (GRCm39) |
R2967G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,322 (GRCm39) |
D2658G |
probably benign |
Het |
| Ftsj3 |
A |
G |
11: 106,140,344 (GRCm39) |
V808A |
probably damaging |
Het |
| Gm10447 |
A |
T |
11: 53,347,216 (GRCm39) |
Y104* |
probably null |
Het |
| Gm27013 |
A |
T |
6: 130,653,163 (GRCm39) |
C766* |
probably null |
Het |
| Gm5581 |
A |
G |
6: 131,144,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
A |
2: 21,831,968 (GRCm39) |
V1023I |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,581,647 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,225,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,541,516 (GRCm39) |
I369V |
probably benign |
Het |
| Kif4-ps |
C |
T |
12: 101,115,476 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,262 (GRCm39) |
M164I |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,058,754 (GRCm39) |
I1050V |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,751,567 (GRCm39) |
V133D |
possibly damaging |
Het |
| Mycn |
A |
T |
12: 12,987,080 (GRCm39) |
L439Q |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,088,143 (GRCm39) |
A1920S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,541,585 (GRCm39) |
V1392A |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,549,020 (GRCm39) |
|
probably benign |
Het |
| Nme3 |
A |
G |
17: 25,115,697 (GRCm39) |
K48E |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,387 (GRCm39) |
R58G |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,201,574 (GRCm39) |
E1270G |
probably damaging |
Het |
| Or12d16-ps1 |
G |
T |
17: 37,705,916 (GRCm39) |
A162S |
probably benign |
Het |
| Or4e2 |
C |
G |
14: 52,688,051 (GRCm39) |
Y60* |
probably null |
Het |
| Or51l4 |
A |
T |
7: 103,404,503 (GRCm39) |
F96L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,762,651 (GRCm39) |
L3708P |
unknown |
Het |
| Pde4dip |
A |
T |
3: 97,662,827 (GRCm39) |
N590K |
probably damaging |
Het |
| Prokr1 |
A |
C |
6: 87,558,806 (GRCm39) |
I193S |
possibly damaging |
Het |
| Pxdc1 |
C |
A |
13: 34,822,989 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,971,854 (GRCm39) |
S1494T |
probably benign |
Het |
| Rbms3 |
G |
C |
9: 116,507,573 (GRCm39) |
|
probably benign |
Het |
| Reep3 |
T |
A |
10: 66,932,042 (GRCm39) |
|
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,422 (GRCm39) |
K244R |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,389 (GRCm39) |
V2533A |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,790,026 (GRCm39) |
Y580C |
probably damaging |
Het |
| Stac2 |
G |
T |
11: 97,932,398 (GRCm39) |
S198R |
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,022,248 (GRCm39) |
N222K |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,268,474 (GRCm39) |
S103P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,943,930 (GRCm39) |
I183F |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,625 (GRCm39) |
I256V |
probably damaging |
Het |
| Tmem207 |
C |
T |
16: 26,336,603 (GRCm39) |
W50* |
probably null |
Het |
| Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,623 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,814,705 (GRCm39) |
S263T |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,882 (GRCm39) |
V140I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,456,152 (GRCm39) |
T1336I |
unknown |
Het |
| Zdbf2 |
G |
T |
1: 63,342,073 (GRCm39) |
V151F |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,674,949 (GRCm39) |
S2000P |
probably damaging |
Het |
| Zfp65 |
T |
A |
13: 67,859,099 (GRCm39) |
I12F |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,469,619 (GRCm39) |
Q428K |
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,813 (GRCm39) |
M287R |
probably benign |
Het |
| Zfp976 |
A |
T |
7: 42,261,846 (GRCm39) |
|
probably benign |
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 |
|
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'- CTGCATTACACACATACACTTGAAG -3'
(R):5'- AGATTGTACTCCTTTCAGGGTAGG -3'
Sequencing Primer
(F):5'- CACTTGAAGATCAGAAGAAATGTCTG -3'
(R):5'- AGCTTCTGGGATAGTGAGAAACTTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation