Incidental Mutation 'R0245:Xpo4'
| ID |
36194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo4
|
| Ensembl Gene |
ENSMUSG00000021952 |
| Gene Name |
exportin 4 |
| Synonyms |
|
| MMRRC Submission |
038483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R0245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57577521-57665430 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57630240 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 183
(H183Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089482]
[ENSMUST00000174152]
[ENSMUST00000174545]
|
| AlphaFold |
Q9ESJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089482
AA Change: H183Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086909
Gene: ENSMUSG00000021952
AA Change: H183Q
| 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: H183Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133280
Gene: ENSMUSG00000021952
AA Change: H183Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 124,651,429 (GRCm38) |
|
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,458,066 (GRCm38) |
|
probably benign |
Het |
| Adra2a |
G |
C |
19: 54,047,409 (GRCm38) |
V399L |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,126,860 (GRCm38) |
D306G |
probably damaging |
Het |
| Asic3 |
C |
A |
5: 24,413,838 (GRCm38) |
R43S |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,794,558 (GRCm38) |
D615G |
probably damaging |
Het |
| BC024978 |
T |
A |
7: 27,200,603 (GRCm38) |
C98S |
possibly damaging |
Het |
| Btbd2 |
A |
T |
10: 80,647,806 (GRCm38) |
Y178N |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,604,454 (GRCm38) |
N1647D |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,308,721 (GRCm38) |
D803V |
probably damaging |
Het |
| Ccdc129 |
A |
G |
6: 55,898,007 (GRCm38) |
E314G |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,481,632 (GRCm38) |
R675C |
possibly damaging |
Het |
| Cdx2 |
C |
A |
5: 147,306,473 (GRCm38) |
K170N |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,469,518 (GRCm38) |
D56V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,501,526 (GRCm38) |
Y2563C |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 99,055,349 (GRCm38) |
D552G |
possibly damaging |
Het |
| E2f7 |
C |
A |
10: 110,774,795 (GRCm38) |
S427* |
probably null |
Het |
| Eps8 |
T |
C |
6: 137,479,128 (GRCm38) |
D785G |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,074,800 (GRCm38) |
C14Y |
possibly damaging |
Het |
| Fah |
A |
C |
7: 84,595,498 (GRCm38) |
H222Q |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,436,168 (GRCm38) |
S432C |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,093,771 (GRCm38) |
S334P |
possibly damaging |
Het |
| Fgf7 |
A |
G |
2: 126,035,955 (GRCm38) |
K81E |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,300,554 (GRCm38) |
N153S |
possibly damaging |
Het |
| Gm12355 |
T |
A |
11: 98,625,241 (GRCm38) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 39,035,259 (GRCm38) |
V351A |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,504,507 (GRCm38) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,696,456 (GRCm38) |
Y1271C |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,834,964 (GRCm38) |
I252T |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,108,787 (GRCm38) |
I298T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,164,290 (GRCm38) |
I2081V |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,012,796 (GRCm38) |
C535* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,514,722 (GRCm38) |
F589S |
probably damaging |
Het |
| Itgb8 |
T |
A |
12: 119,190,555 (GRCm38) |
N249I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,175,689 (GRCm38) |
D60G |
probably benign |
Het |
| Kng2 |
A |
T |
16: 23,012,181 (GRCm38) |
|
probably benign |
Het |
| March4 |
A |
T |
1: 72,534,781 (GRCm38) |
D119E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,465,075 (GRCm38) |
|
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,391,211 (GRCm38) |
G2059D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,525,108 (GRCm38) |
K660R |
probably damaging |
Het |
| Nr2c2ap |
T |
C |
8: 70,131,578 (GRCm38) |
V6A |
possibly damaging |
Het |
| Olfr1209 |
C |
A |
2: 88,909,875 (GRCm38) |
D173Y |
possibly damaging |
Het |
| Olfr1302 |
A |
G |
2: 111,780,335 (GRCm38) |
N5S |
probably damaging |
Het |
| Olfr1404 |
T |
A |
1: 173,215,957 (GRCm38) |
I102N |
possibly damaging |
Het |
| Olfr177 |
A |
T |
16: 58,872,866 (GRCm38) |
Y95N |
probably benign |
Het |
| Olfr853 |
C |
A |
9: 19,537,112 (GRCm38) |
V273L |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,611,574 (GRCm38) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,540,400 (GRCm38) |
S1046G |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 181,202,491 (GRCm38) |
D5G |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,030,080 (GRCm38) |
H486R |
probably benign |
Het |
| Rnf111 |
C |
T |
9: 70,453,831 (GRCm38) |
|
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,438,609 (GRCm38) |
Y309C |
probably damaging |
Het |
| Rnf19a |
A |
T |
15: 36,253,032 (GRCm38) |
I387N |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,606,025 (GRCm38) |
R914C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,954,958 (GRCm38) |
T494A |
probably benign |
Het |
| Serac1 |
G |
T |
17: 6,051,756 (GRCm38) |
D384E |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,475,566 (GRCm38) |
M40V |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,540,924 (GRCm38) |
I416T |
probably benign |
Het |
| Snapc1 |
C |
T |
12: 73,975,032 (GRCm38) |
R81C |
probably damaging |
Het |
| Spata32 |
C |
T |
11: 103,209,095 (GRCm38) |
A195T |
probably damaging |
Het |
| Srrd |
A |
G |
5: 112,337,528 (GRCm38) |
|
probably benign |
Het |
| Supt3 |
T |
C |
17: 45,036,775 (GRCm38) |
V208A |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,252,679 (GRCm38) |
|
probably benign |
Het |
| Tbxas1 |
G |
T |
6: 39,027,768 (GRCm38) |
R316S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,075,592 (GRCm38) |
I116N |
possibly damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,618,609 (GRCm38) |
T260A |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 99,010,096 (GRCm38) |
I556V |
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,344,197 (GRCm38) |
M252V |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,337,154 (GRCm38) |
I81L |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,207,835 (GRCm38) |
Y389F |
probably damaging |
Het |
|
| Other mutations in Xpo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01944:Xpo4
|
APN |
14 |
57,604,398 (GRCm38) |
missense |
probably benign |
|
|
IGL02537:Xpo4
|
APN |
14 |
57,593,833 (GRCm38) |
missense |
probably benign |
|
|
IGL02554:Xpo4
|
APN |
14 |
57,590,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02826:Xpo4
|
APN |
14 |
57,629,420 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL03071:Xpo4
|
APN |
14 |
57,618,228 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
PIT4131001:Xpo4
|
UTSW |
14 |
57,584,611 (GRCm38) |
missense |
probably null |
0.98 |
|
R0546:Xpo4
|
UTSW |
14 |
57,613,274 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0606:Xpo4
|
UTSW |
14 |
57,638,208 (GRCm38) |
unclassified |
probably benign |
|
|
R0761:Xpo4
|
UTSW |
14 |
57,613,383 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1775:Xpo4
|
UTSW |
14 |
57,603,672 (GRCm38) |
missense |
probably benign |
|
|
R1853:Xpo4
|
UTSW |
14 |
57,585,907 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1923:Xpo4
|
UTSW |
14 |
57,590,871 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2007:Xpo4
|
UTSW |
14 |
57,586,644 (GRCm38) |
missense |
probably null |
0.19 |
|
R2035:Xpo4
|
UTSW |
14 |
57,585,926 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2174:Xpo4
|
UTSW |
14 |
57,590,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2421:Xpo4
|
UTSW |
14 |
57,629,503 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2937:Xpo4
|
UTSW |
14 |
57,604,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2938:Xpo4
|
UTSW |
14 |
57,604,440 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4066:Xpo4
|
UTSW |
14 |
57,588,054 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4086:Xpo4
|
UTSW |
14 |
57,643,033 (GRCm38) |
intron |
probably benign |
|
|
R4373:Xpo4
|
UTSW |
14 |
57,591,022 (GRCm38) |
nonsense |
probably null |
|
|
R4620:Xpo4
|
UTSW |
14 |
57,630,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Xpo4
|
UTSW |
14 |
57,590,108 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4755:Xpo4
|
UTSW |
14 |
57,618,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4831:Xpo4
|
UTSW |
14 |
57,590,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4905:Xpo4
|
UTSW |
14 |
57,638,289 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4943:Xpo4
|
UTSW |
14 |
57,638,240 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5074:Xpo4
|
UTSW |
14 |
57,584,641 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5279:Xpo4
|
UTSW |
14 |
57,613,409 (GRCm38) |
missense |
probably benign |
0.37 |
|
R5375:Xpo4
|
UTSW |
14 |
57,638,307 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5690:Xpo4
|
UTSW |
14 |
57,590,989 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5936:Xpo4
|
UTSW |
14 |
57,643,499 (GRCm38) |
missense |
probably benign |
|
|
R6393:Xpo4
|
UTSW |
14 |
57,638,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6824:Xpo4
|
UTSW |
14 |
57,613,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6893:Xpo4
|
UTSW |
14 |
57,582,310 (GRCm38) |
missense |
probably benign |
|
|
R6923:Xpo4
|
UTSW |
14 |
57,603,711 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7028:Xpo4
|
UTSW |
14 |
57,597,051 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7442:Xpo4
|
UTSW |
14 |
57,630,223 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7469:Xpo4
|
UTSW |
14 |
57,597,979 (GRCm38) |
missense |
probably benign |
|
|
R7490:Xpo4
|
UTSW |
14 |
57,602,621 (GRCm38) |
frame shift |
probably null |
|
|
R7622:Xpo4
|
UTSW |
14 |
57,597,011 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7667:Xpo4
|
UTSW |
14 |
57,589,959 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7789:Xpo4
|
UTSW |
14 |
57,613,349 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7895:Xpo4
|
UTSW |
14 |
57,602,591 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8000:Xpo4
|
UTSW |
14 |
57,589,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8372:Xpo4
|
UTSW |
14 |
57,597,884 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8395:Xpo4
|
UTSW |
14 |
57,648,467 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8420:Xpo4
|
UTSW |
14 |
57,604,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8836:Xpo4
|
UTSW |
14 |
57,664,910 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8841:Xpo4
|
UTSW |
14 |
57,597,956 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8989:Xpo4
|
UTSW |
14 |
57,591,018 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9229:Xpo4
|
UTSW |
14 |
57,613,699 (GRCm38) |
missense |
probably benign |
|
|
R9374:Xpo4
|
UTSW |
14 |
57,591,055 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9551:Xpo4
|
UTSW |
14 |
57,591,055 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9628:Xpo4
|
UTSW |
14 |
57,605,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCGTAAGTCTTCAGGCATAAGC -3'
(R):5'- TGGGTTCCAGTCCTCCTAATGTCAG -3'
Sequencing Primer
(F):5'- GTCTTCAGGCATAAGCTACCAC -3'
(R):5'- GGAGAGCCAGTCTTCTTAGTCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation