Incidental Mutation 'R2938:Xpo4'
| ID |
256124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
040515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R2938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57841897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 473
(Q473K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089482
AA Change: Q473K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: Q473K
| 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 benign
Transcript: ENSMUST00000174545
AA Change: Q473K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: Q473K
| 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 |
0.0716 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
| Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
| Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
| Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
| Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
| Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
| Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
| Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
| Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
| Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
| Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
| Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
| Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
| Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
| Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
| Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
| Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
| Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,239,397 (GRCm39) |
E389K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
| Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
| Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
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 |
|
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'- TGCCTGGGCTCCAATTGTATAAG -3'
(R):5'- TGTCCAGCTCTTCCTGAAGC -3'
Sequencing Primer
(F):5'- CTGGGCTCCAATTGTATAAGCCAAAG -3'
(R):5'- TTCCTGAAGCCACTTGACAGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation