Incidental Mutation 'R8841:Xpo4'
| ID |
674442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
B430309A01Rik |
| MMRRC Submission |
068732-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R8841 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57814978-57902887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57835413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 636
(K636R)
|
| 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: K636R
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: K636R
| 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: K636R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: K636R
| 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 |
0.1542 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,143,925 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
C |
T |
16: 93,701,908 (GRCm39) |
T510I |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,554,487 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,393,580 (GRCm39) |
Q11R |
probably benign |
Het |
| Dmrta1 |
A |
C |
4: 89,579,950 (GRCm39) |
R303S |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,264,768 (GRCm39) |
I543T |
possibly damaging |
Het |
| Fbxw2 |
G |
A |
2: 34,712,844 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,992,181 (GRCm39) |
V505A |
unknown |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,681,972 (GRCm39) |
V773A |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,794,426 (GRCm39) |
E298G |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,653,555 (GRCm39) |
P77T |
probably damaging |
Het |
| Gpam |
C |
A |
19: 55,066,950 (GRCm39) |
D522Y |
probably damaging |
Het |
| Hpgd |
T |
A |
8: 56,760,709 (GRCm39) |
N135K |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,550,789 (GRCm39) |
R437W |
probably damaging |
Het |
| Kif1c |
G |
A |
11: 70,615,659 (GRCm39) |
V588I |
probably benign |
Het |
| Klhdc4 |
T |
A |
8: 122,523,380 (GRCm39) |
E554V |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,754,970 (GRCm39) |
D82G |
probably benign |
Het |
| Lin7a |
A |
G |
10: 107,218,524 (GRCm39) |
R145G |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,391,920 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,628,188 (GRCm39) |
V178A |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,152,037 (GRCm39) |
R647G |
possibly damaging |
Het |
| Mapt |
A |
G |
11: 104,201,203 (GRCm39) |
E153G |
probably damaging |
Het |
| Mefv |
C |
T |
16: 3,528,842 (GRCm39) |
C563Y |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,097,490 (GRCm39) |
N1792S |
probably benign |
Het |
| Nkx6-3 |
C |
T |
8: 23,646,274 (GRCm39) |
T148M |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,707,911 (GRCm39) |
S573T |
probably benign |
Het |
| Ntrk3 |
G |
T |
7: 78,005,841 (GRCm39) |
R507S |
probably damaging |
Het |
| Or2v2 |
A |
C |
11: 49,003,938 (GRCm39) |
I205S |
probably benign |
Het |
| Or4k15 |
T |
A |
14: 50,364,666 (GRCm39) |
F211I |
probably damaging |
Het |
| Or52e5 |
T |
A |
7: 104,719,479 (GRCm39) |
N268K |
possibly damaging |
Het |
| Or6c200-ps1 |
A |
G |
10: 128,870,042 (GRCm39) |
V223A |
probably benign |
Het |
| Or7e168 |
A |
T |
9: 19,719,885 (GRCm39) |
R90S |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,905,879 (GRCm39) |
M284T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,699 (GRCm39) |
I126V |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,092,884 (GRCm39) |
|
probably null |
Het |
| Pign |
T |
C |
1: 105,485,634 (GRCm39) |
|
probably benign |
Het |
| Plekhn1 |
A |
G |
4: 156,316,655 (GRCm39) |
L342P |
probably damaging |
Het |
| Pomk |
G |
A |
8: 26,476,407 (GRCm39) |
A49V |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
| Ralgps1 |
A |
C |
2: 33,045,329 (GRCm39) |
F406L |
probably benign |
Het |
| Rexo5 |
G |
A |
7: 119,448,011 (GRCm39) |
S752N |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,537 (GRCm39) |
I483L |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,156,466 (GRCm39) |
D481V |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,320,208 (GRCm39) |
I554T |
probably damaging |
Het |
| Shc2 |
A |
G |
10: 79,458,150 (GRCm39) |
V511A |
probably damaging |
Het |
| Slc18a2 |
C |
T |
19: 59,261,713 (GRCm39) |
S200F |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,845 (GRCm39) |
D208G |
probably damaging |
Het |
| Smok3c |
C |
A |
5: 138,063,537 (GRCm39) |
D341E |
probably damaging |
Het |
| Tfcp2 |
A |
G |
15: 100,410,989 (GRCm39) |
I373T |
probably damaging |
Het |
| Tnpo3 |
T |
A |
6: 29,589,182 (GRCm39) |
D56V |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,465,993 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,033,804 (GRCm39) |
C612R |
probably damaging |
Het |
| Ush1g |
G |
T |
11: 115,210,007 (GRCm39) |
D62E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,299 (GRCm39) |
N331S |
|
Het |
| Vmn2r4 |
T |
C |
3: 64,314,058 (GRCm39) |
I308V |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,184,702 (GRCm39) |
V400E |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,235,916 (GRCm39) |
D1129G |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,206,971 (GRCm39) |
Q1101K |
probably damaging |
Het |
| Wfdc17 |
G |
T |
11: 83,594,938 (GRCm39) |
L7F |
probably benign |
Het |
| Zan |
T |
A |
5: 137,454,936 (GRCm39) |
T1367S |
unknown |
Het |
| Zfp691 |
A |
T |
4: 119,027,861 (GRCm39) |
S124T |
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 |
|
|
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 |
|
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'- CAGAGCTGTCTCTCTTAAACAGG -3'
(R):5'- TGAAATTTTCACACAGCCTGG -3'
Sequencing Primer
(F):5'- GCTATGGCTGTCCTAGAACTCAATG -3'
(R):5'- TTTTCACACAGCCTGGTATAAAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation