Incidental Mutation 'R9628:Xpo4'
| ID |
725302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R9628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57842630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 434
(N434D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089482
AA Change: N434D
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: N434D
| 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: N434D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: N434D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,193 (GRCm39) |
N635D |
probably damaging |
Het |
| Ankrd13c |
G |
C |
3: 157,653,313 (GRCm39) |
K50N |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,838,025 (GRCm39) |
Y635C |
unknown |
Het |
| Avl9 |
T |
A |
6: 56,713,460 (GRCm39) |
Y239* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,097,961 (GRCm39) |
H1449Q |
|
Het |
| Ccdc141 |
G |
A |
2: 76,844,838 (GRCm39) |
P1410S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,925,043 (GRCm39) |
T471M |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,083,213 (GRCm39) |
S27P |
|
Het |
| Cdk11b |
T |
G |
4: 155,734,154 (GRCm39) |
D756E |
unknown |
Het |
| Celsr3 |
C |
A |
9: 108,703,559 (GRCm39) |
S14* |
probably null |
Het |
| Cntrob |
T |
C |
11: 69,213,782 (GRCm39) |
T3A |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,004,923 (GRCm39) |
E428G |
unknown |
Het |
| Csde1 |
T |
C |
3: 102,962,825 (GRCm39) |
V738A |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,118,999 (GRCm39) |
Y230H |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,142,993 (GRCm39) |
I264T |
probably damaging |
Het |
| Dleu7 |
C |
A |
14: 62,530,144 (GRCm39) |
A86S |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,858,646 (GRCm39) |
D132V |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,111,672 (GRCm39) |
V219A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,292 (GRCm39) |
Y256C |
probably benign |
Het |
| Ess2 |
A |
T |
16: 17,720,757 (GRCm39) |
M363K |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,825,010 (GRCm39) |
E168G |
probably damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,545 (GRCm39) |
Y18C |
probably damaging |
Het |
| Gckr |
C |
A |
5: 31,457,934 (GRCm39) |
A147D |
probably damaging |
Het |
| H1f8 |
G |
A |
6: 115,924,700 (GRCm39) |
V69I |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,901,560 (GRCm39) |
L506P |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,103 (GRCm39) |
|
probably null |
Het |
| Ldhb |
T |
C |
6: 142,439,862 (GRCm39) |
E226G |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,948 (GRCm39) |
V223G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,394,330 (GRCm39) |
V365A |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,776 (GRCm39) |
K464E |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,158,285 (GRCm39) |
I1000T |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,568,966 (GRCm39) |
L35P |
probably damaging |
Het |
| Nptx2 |
G |
A |
5: 144,490,261 (GRCm39) |
R230H |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,183,274 (GRCm39) |
R328H |
probably damaging |
Het |
| Or1e25 |
G |
A |
11: 73,493,864 (GRCm39) |
V153I |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,670 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,399,871 (GRCm39) |
L182R |
probably benign |
Het |
| Padi6 |
G |
A |
4: 140,464,626 (GRCm39) |
T201I |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,354,985 (GRCm39) |
T13I |
possibly damaging |
Het |
| Ppp6r1 |
G |
A |
7: 4,636,112 (GRCm39) |
A782V |
probably benign |
Het |
| Rab18 |
G |
A |
18: 6,788,647 (GRCm39) |
V205M |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,398 (GRCm39) |
I722N |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,512 (GRCm39) |
V135A |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,961,422 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
T |
C |
5: 31,197,746 (GRCm39) |
Y321C |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,555,186 (GRCm39) |
D178E |
probably benign |
Het |
| Swsap1 |
T |
G |
9: 21,867,172 (GRCm39) |
S39A |
|
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tor1aip1 |
C |
A |
1: 155,893,320 (GRCm39) |
G276* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,705,999 (GRCm39) |
M1220I |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r35 |
A |
G |
7: 7,815,702 (GRCm39) |
V489A |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,932,549 (GRCm39) |
V309A |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,009,423 (GRCm39) |
H463L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCCACATATGAAAATTGGCAG -3'
(R):5'- GCTGCATACCTCTTGCAATG -3'
Sequencing Primer
(F):5'- GATACAAGGGACCACATGTTTCTCAG -3'
(R):5'- TGCAATGCCCATTTTATTTCTCTAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation