Incidental Mutation 'R6824:Xpo4'
| ID |
534070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
044936-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R6824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57850860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 348
(I348N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089482
AA Change: I348N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: I348N
| 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 damaging
Transcript: ENSMUST00000174545
AA Change: I348N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: I348N
| 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 |
0.7926 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
A |
G |
6: 39,552,058 (GRCm39) |
D275G |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,510 (GRCm39) |
K1051E |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,249,938 (GRCm39) |
M16L |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,716,962 (GRCm39) |
T285A |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,036 (GRCm39) |
M213L |
probably benign |
Het |
| Ctif |
C |
T |
18: 75,654,782 (GRCm39) |
R248Q |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,672,265 (GRCm39) |
I60T |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,256,328 (GRCm39) |
I310T |
possibly damaging |
Het |
| Defb6 |
T |
C |
8: 19,278,099 (GRCm39) |
I57T |
probably benign |
Het |
| Dnajc27 |
T |
C |
12: 4,156,897 (GRCm39) |
V262A |
possibly damaging |
Het |
| Emsy |
G |
A |
7: 98,242,614 (GRCm39) |
T1175M |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,011,674 (GRCm39) |
V2258E |
probably benign |
Het |
| Gm136 |
G |
A |
4: 34,746,591 (GRCm39) |
T140I |
probably benign |
Het |
| Gps1 |
T |
C |
11: 120,678,254 (GRCm39) |
F265S |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,804,081 (GRCm39) |
V560A |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,701 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,906,875 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lad1 |
A |
G |
1: 135,755,479 (GRCm39) |
T252A |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,608,513 (GRCm39) |
S743N |
possibly damaging |
Het |
| Mrpl9 |
C |
A |
3: 94,350,677 (GRCm39) |
P7H |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,021,019 (GRCm39) |
H470L |
probably benign |
Het |
| Nicol1 |
T |
C |
5: 34,141,069 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,042,542 (GRCm39) |
I56T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,900,622 (GRCm39) |
Y338C |
probably damaging |
Het |
| Or13n4 |
A |
G |
7: 106,423,664 (GRCm39) |
V23A |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,752 (GRCm39) |
M426K |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,473,485 (GRCm39) |
T104A |
possibly damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,130 (GRCm39) |
T1407S |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,814,038 (GRCm39) |
R369Q |
possibly damaging |
Het |
| Rnf180 |
T |
A |
13: 105,318,023 (GRCm39) |
D463V |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,882,600 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,760 (GRCm39) |
D488G |
probably benign |
Het |
| Slc9a9 |
C |
T |
9: 95,109,251 (GRCm39) |
P538S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,240,370 (GRCm39) |
K159E |
probably benign |
Het |
| Spaca1 |
A |
G |
4: 34,049,869 (GRCm39) |
V43A |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,537,363 (GRCm39) |
S191P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,414,245 (GRCm39) |
H73R |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,995,844 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,449 (GRCm39) |
Y793C |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,475,578 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
G |
T |
7: 41,949,403 (GRCm39) |
V608L |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
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 |
|
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 |
|
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'- TAGCACCAATTTCCTACGGG -3'
(R):5'- TTGAGGGCTTGCTCAACAC -3'
Sequencing Primer
(F):5'- TCCTACGGGAAACAGACACAG -3'
(R):5'- GGCTTAATCCTCATTACTTGA -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation