Incidental Mutation 'BB010:Xpo7'
ID |
642599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo7
|
Ensembl Gene |
ENSMUSG00000022100 |
Gene Name |
exportin 7 |
Synonyms |
4930506C02Rik, Ranbp16 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.256)
|
Stock # |
BB010
|
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 70944788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 35
(V35A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
AlphaFold |
Q9EPK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022696
AA Change: V35A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000022696 Gene: ENSMUSG00000022100 AA Change: V35A
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: V35A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000129504 Gene: ENSMUSG00000022100 AA Change: V35A
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: V35A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: V36A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
Or10g9b |
T |
C |
9: 39,918,431 (GRCm39) |
|
probably benign |
Het |
Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
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 |
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 |
|
R8518:Xpo7
|
UTSW |
14 |
70,944,837 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCCATCGTTAACCTGGCTATG -3'
(R):5'- AGTTCTTGCTTCACTGAGCATG -3'
Sequencing Primer
(F):5'- TAACCTGGCTATGACAGTGC -3'
(R):5'- CTTCACTGAGCATGGTTGGC -3'
|
Posted On |
2020-08-01 |