Incidental Mutation 'R8518:Xpo7'
| ID |
656268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
067850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R8518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70944837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 19
(Y19H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022696
AA Change: Y19H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Y19H
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: Y19H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Y19H
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: Y19H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228346
AA Change: Y20H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,223,398 (GRCm39) |
V170A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,666,957 (GRCm39) |
E418G |
probably damaging |
Het |
| Adra2b |
T |
C |
2: 127,206,056 (GRCm39) |
L191P |
probably damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bag2 |
T |
C |
1: 33,787,358 (GRCm39) |
I55V |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,156,064 (GRCm39) |
L192P |
possibly damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,343 (GRCm39) |
I200M |
possibly damaging |
Het |
| Cacna1i |
C |
A |
15: 80,243,095 (GRCm39) |
Y417* |
probably null |
Het |
| Cdc7 |
T |
A |
5: 107,120,864 (GRCm39) |
I162N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,754,211 (GRCm39) |
I89T |
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,346,510 (GRCm39) |
N224S |
probably benign |
Het |
| Dync1i1 |
T |
G |
6: 5,913,330 (GRCm39) |
L188V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,051,452 (GRCm39) |
V3161A |
probably benign |
Het |
| E2f3 |
T |
A |
13: 30,097,453 (GRCm39) |
K303N |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,748,635 (GRCm39) |
T663A |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,189,390 (GRCm39) |
R611G |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,224 (GRCm39) |
S506C |
probably damaging |
Het |
| Gm10318 |
T |
A |
10: 77,688,712 (GRCm39) |
M6K |
unknown |
Het |
| Gm6563 |
T |
A |
19: 23,653,480 (GRCm39) |
V90E |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,163,384 (GRCm39) |
S13P |
probably benign |
Het |
| Gpr107 |
C |
A |
2: 31,066,939 (GRCm39) |
H196Q |
probably benign |
Het |
| Heatr1 |
T |
G |
13: 12,425,415 (GRCm39) |
D618E |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,808,690 (GRCm39) |
V391A |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,360,154 (GRCm39) |
K349N |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,670 (GRCm39) |
V261A |
probably damaging |
Het |
| Mrpl48 |
G |
A |
7: 100,232,269 (GRCm39) |
|
probably benign |
Het |
| Msantd5f5 |
T |
A |
4: 73,542,641 (GRCm39) |
L47Q |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,430,927 (GRCm39) |
I8062V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,740,270 (GRCm39) |
N575D |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,311,261 (GRCm39) |
L370P |
probably damaging |
Het |
| Numbl |
T |
C |
7: 26,964,361 (GRCm39) |
V57A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,804 (GRCm39) |
V44A |
probably damaging |
Het |
| Or5b12 |
G |
A |
19: 12,896,959 (GRCm39) |
T238I |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,742 (GRCm39) |
C184* |
probably null |
Het |
| Pdia2 |
A |
T |
17: 26,417,144 (GRCm39) |
L100* |
probably null |
Het |
| Prpf31 |
A |
T |
7: 3,635,742 (GRCm39) |
N105I |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,839,923 (GRCm39) |
N971D |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,353,043 (GRCm39) |
M3980K |
|
Het |
| Skint6 |
A |
G |
4: 113,095,465 (GRCm39) |
F65L |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,884 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfpt |
A |
G |
7: 3,632,065 (GRCm39) |
F15S |
possibly damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,971 (GRCm39) |
V464E |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,019,545 (GRCm39) |
L824H |
probably damaging |
Het |
| Trav15-1-dv6-1 |
A |
G |
14: 53,797,666 (GRCm39) |
D105G |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,258,238 (GRCm39) |
S1679P |
probably benign |
Het |
| Zswim4 |
G |
A |
8: 84,938,586 (GRCm39) |
R1099W |
probably damaging |
Het |
|
| Other mutations in Xpo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Xpo7
|
APN |
14 |
70,909,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01066:Xpo7
|
APN |
14 |
70,939,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01610:Xpo7
|
APN |
14 |
70,940,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Xpo7
|
APN |
14 |
70,922,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Xpo7
|
APN |
14 |
70,903,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02647:Xpo7
|
APN |
14 |
70,922,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Xpo7
|
APN |
14 |
70,918,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03245:Xpo7
|
APN |
14 |
70,925,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB020:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
G1patch:Xpo7
|
UTSW |
14 |
70,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Xpo7
|
UTSW |
14 |
70,904,589 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0893:Xpo7
|
UTSW |
14 |
70,903,537 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Xpo7
|
UTSW |
14 |
70,904,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1474:Xpo7
|
UTSW |
14 |
70,936,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Xpo7
|
UTSW |
14 |
70,915,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1867:Xpo7
|
UTSW |
14 |
70,931,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Xpo7
|
UTSW |
14 |
70,933,064 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2105:Xpo7
|
UTSW |
14 |
70,928,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2369:Xpo7
|
UTSW |
14 |
70,925,171 (GRCm39) |
nonsense |
probably null |
|
|
R2937:Xpo7
|
UTSW |
14 |
70,909,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2938:Xpo7
|
UTSW |
14 |
70,909,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2940:Xpo7
|
UTSW |
14 |
70,904,577 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2940:Xpo7
|
UTSW |
14 |
70,904,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Xpo7
|
UTSW |
14 |
70,930,085 (GRCm39) |
splice site |
probably benign |
|
|
R4436:Xpo7
|
UTSW |
14 |
70,906,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Xpo7
|
UTSW |
14 |
70,906,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Xpo7
|
UTSW |
14 |
70,914,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4875:Xpo7
|
UTSW |
14 |
70,914,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4907:Xpo7
|
UTSW |
14 |
70,908,069 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5007:Xpo7
|
UTSW |
14 |
70,925,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Xpo7
|
UTSW |
14 |
70,921,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5346:Xpo7
|
UTSW |
14 |
70,921,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Xpo7
|
UTSW |
14 |
70,909,090 (GRCm39) |
nonsense |
probably null |
|
|
R5533:Xpo7
|
UTSW |
14 |
70,931,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Xpo7
|
UTSW |
14 |
70,920,286 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6042:Xpo7
|
UTSW |
14 |
70,933,103 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6052:Xpo7
|
UTSW |
14 |
70,921,159 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6066:Xpo7
|
UTSW |
14 |
70,919,778 (GRCm39) |
missense |
probably null |
0.99 |
|
R6085:Xpo7
|
UTSW |
14 |
70,934,051 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6180:Xpo7
|
UTSW |
14 |
70,920,243 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6291:Xpo7
|
UTSW |
14 |
70,942,130 (GRCm39) |
nonsense |
probably null |
|
|
R6401:Xpo7
|
UTSW |
14 |
70,919,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Xpo7
|
UTSW |
14 |
70,919,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6725:Xpo7
|
UTSW |
14 |
70,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Xpo7
|
UTSW |
14 |
70,903,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6996:Xpo7
|
UTSW |
14 |
70,906,888 (GRCm39) |
missense |
probably benign |
|
|
R7020:Xpo7
|
UTSW |
14 |
70,903,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Xpo7
|
UTSW |
14 |
70,922,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7061:Xpo7
|
UTSW |
14 |
70,908,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7095:Xpo7
|
UTSW |
14 |
70,942,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Xpo7
|
UTSW |
14 |
70,909,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Xpo7
|
UTSW |
14 |
70,944,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8044:Xpo7
|
UTSW |
14 |
70,922,366 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8438:Xpo7
|
UTSW |
14 |
70,940,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8495:Xpo7
|
UTSW |
14 |
70,907,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9018:Xpo7
|
UTSW |
14 |
70,944,864 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Xpo7
|
UTSW |
14 |
70,909,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9385:Xpo7
|
UTSW |
14 |
70,925,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Xpo7
|
UTSW |
14 |
70,903,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9569:Xpo7
|
UTSW |
14 |
70,906,140 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9610:Xpo7
|
UTSW |
14 |
70,925,617 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9611:Xpo7
|
UTSW |
14 |
70,925,617 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0062:Xpo7
|
UTSW |
14 |
70,922,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo7
|
UTSW |
14 |
70,930,150 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTAAAGTTAGAAGCAGGGC -3'
(R):5'- TTTCCCAAGACTATGACTCAGAAC -3'
Sequencing Primer
(F):5'- AGTTAGAAGCAGGGCATTTTTC -3'
(R):5'- CTGCTTCAAATAAAGAGAGATGCATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation