Incidental Mutation 'R4373:Xpo4'
ID |
326075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo4
|
Ensembl Gene |
ENSMUSG00000021952 |
Gene Name |
exportin 4 |
Synonyms |
B430309A01Rik |
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.722)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 57828479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 794
(Q794*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174545]
|
AlphaFold |
Q9ESJ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089482
AA Change: Q794*
|
SMART Domains |
Protein: ENSMUSP00000086909 Gene: ENSMUSG00000021952 AA Change: Q794*
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 null
Transcript: ENSMUST00000174545
AA Change: Q794*
|
SMART Domains |
Protein: ENSMUSP00000133280 Gene: ENSMUSG00000021952 AA Change: Q794*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
|
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'- GCTTCAGAGATTTGTAATCCTGAC -3'
(R):5'- AGGGATAAAGAGCTTACTGGTTC -3'
Sequencing Primer
(F):5'- CTTACCTCTCCAAGATAGCATATTTG -3'
(R):5'- GAGCTTACTGGTTCAAATAGTCCTTG -3'
|
Posted On |
2015-07-06 |