Incidental Mutation 'R1923:Xpo4'
| ID |
213238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
039941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R1923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57828328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 844
(V844D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089482
AA Change: V844D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: V844D
| 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 |
possibly damaging
Transcript: ENSMUST00000174545
AA Change: V844D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: V844D
| 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 |
0.7356 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
| 4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
| Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,458,096 (GRCm39) |
H423R |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
| Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
| Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
| Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,535,541 (GRCm39) |
D362V |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
| Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,365 (GRCm39) |
V105E |
unknown |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
| Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
| Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
| Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
| Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
| Stox2 |
G |
T |
8: 47,646,661 (GRCm39) |
F266L |
probably damaging |
Het |
| Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
| Tmc7 |
A |
G |
7: 118,144,850 (GRCm39) |
F570S |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
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 |
|
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 |
|
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'- TTCATTCAGCTTGACTATCTTGGAG -3'
(R):5'- TTCTGCAGCCTCTTCAGCAG -3'
Sequencing Primer
(F):5'- GCTTGACTATCTTGGAGAAACATAAC -3'
(R):5'- GGTTCCTGAGAGTGATCAACC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation