Incidental Mutation 'R1509:Xpo7'
| ID |
168173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
039556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R1509 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70915582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 726
(D726G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022696
AA Change: D725G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: D725G
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: D726G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: D726G
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: D725G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228317
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228346
AA Change: D726G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.4322 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
99% (89/90) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
| AC153895.1 |
T |
C |
6: 50,020,451 (GRCm39) |
R54G |
unknown |
Het |
| Acot12 |
G |
A |
13: 91,919,994 (GRCm39) |
|
probably null |
Het |
| Adhfe1 |
T |
A |
1: 9,623,671 (GRCm39) |
D98E |
probably benign |
Het |
| Ago2 |
A |
G |
15: 72,988,213 (GRCm39) |
F594S |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,545,927 (GRCm39) |
I620T |
probably damaging |
Het |
| Aspscr1 |
C |
A |
11: 120,592,342 (GRCm39) |
A294D |
probably damaging |
Het |
| Bod1l |
C |
G |
5: 41,976,883 (GRCm39) |
R1477T |
probably damaging |
Het |
| Ccdc18 |
C |
A |
5: 108,336,844 (GRCm39) |
A741D |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,829,819 (GRCm39) |
V317I |
probably benign |
Het |
| Cgn |
A |
T |
3: 94,681,568 (GRCm39) |
L509Q |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,676,631 (GRCm39) |
H204R |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,790 (GRCm39) |
N431S |
probably damaging |
Het |
| Ddx39a |
G |
A |
8: 84,446,527 (GRCm39) |
V99M |
probably damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,948,808 (GRCm39) |
C582S |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,676,061 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,004,425 (GRCm39) |
E3846G |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,384,084 (GRCm39) |
E655G |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,357,523 (GRCm39) |
Y825C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,173 (GRCm39) |
N36I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fem1c |
A |
G |
18: 46,657,280 (GRCm39) |
S145P |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,623,094 (GRCm39) |
I80T |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,728 (GRCm39) |
T108A |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,271,607 (GRCm39) |
S442P |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,204,491 (GRCm39) |
V22D |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,238,552 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,262,603 (GRCm39) |
|
probably null |
Het |
| Ifnar1 |
C |
A |
16: 91,300,384 (GRCm39) |
P462Q |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,228,049 (GRCm39) |
I485F |
probably benign |
Het |
| Jakmip3 |
C |
T |
7: 138,629,505 (GRCm39) |
R549W |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,187,761 (GRCm39) |
Q680R |
probably damaging |
Het |
| Lysmd3 |
T |
G |
13: 81,817,390 (GRCm39) |
H122Q |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,577,802 (GRCm39) |
V61L |
possibly damaging |
Het |
| Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
| Map3k20 |
A |
T |
2: 72,194,968 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,075,125 (GRCm39) |
V457A |
probably benign |
Het |
| Mrpl40 |
T |
A |
16: 18,694,159 (GRCm39) |
|
probably null |
Het |
| Ms4a10 |
C |
T |
19: 10,941,472 (GRCm39) |
V166I |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,894,100 (GRCm39) |
D300G |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,879,266 (GRCm39) |
|
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,895,391 (GRCm39) |
S172P |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,810,486 (GRCm39) |
F421L |
possibly damaging |
Het |
| Nucb1 |
C |
A |
7: 45,144,649 (GRCm39) |
K301N |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,109,966 (GRCm39) |
H155R |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,390,243 (GRCm39) |
M68K |
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,815 (GRCm39) |
I155N |
possibly damaging |
Het |
| Panx1 |
A |
T |
9: 14,921,341 (GRCm39) |
V178E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,367,402 (GRCm39) |
V1210I |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,048,972 (GRCm39) |
M269K |
probably benign |
Het |
| Prdm12 |
G |
A |
2: 31,544,186 (GRCm39) |
R263H |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,549,430 (GRCm39) |
K1998T |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,643,051 (GRCm39) |
S583T |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,237,921 (GRCm39) |
T567S |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,417,917 (GRCm39) |
K1065R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,418,760 (GRCm39) |
I784T |
probably benign |
Het |
| Rps10 |
A |
C |
17: 27,850,182 (GRCm39) |
F150V |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,870,639 (GRCm39) |
F499I |
probably damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,562,535 (GRCm39) |
R604H |
probably damaging |
Het |
| Slc25a21 |
G |
T |
12: 56,904,864 (GRCm39) |
Q57K |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,395,234 (GRCm39) |
T54A |
possibly damaging |
Het |
| Slc9a9 |
T |
A |
9: 95,111,011 (GRCm39) |
S610T |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,335 (GRCm39) |
S973T |
probably benign |
Het |
| Smc6 |
G |
A |
12: 11,329,734 (GRCm39) |
S164N |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,314 (GRCm39) |
T32A |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,202,946 (GRCm39) |
I1894V |
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,873,541 (GRCm39) |
|
probably benign |
Het |
| Taar7d |
T |
G |
10: 23,904,102 (GRCm39) |
F328C |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,578,113 (GRCm39) |
S327R |
probably benign |
Het |
| Tmem248 |
C |
T |
5: 130,258,295 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,781,259 (GRCm39) |
S83P |
probably damaging |
Het |
| Txk |
T |
A |
5: 72,856,453 (GRCm39) |
Y446F |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,237 (GRCm39) |
C179S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,331,185 (GRCm39) |
E474G |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,862 (GRCm39) |
M685V |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,881 (GRCm39) |
Y146* |
probably null |
Het |
| Wdr1 |
G |
A |
5: 38,697,905 (GRCm39) |
T220M |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
| Zeb1os1 |
A |
G |
18: 5,583,794 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp462 |
T |
A |
4: 55,007,667 (GRCm39) |
D35E |
probably damaging |
Het |
| Zfp467 |
A |
G |
6: 48,415,621 (GRCm39) |
S344P |
possibly damaging |
Het |
| Zfpm1 |
A |
T |
8: 123,034,285 (GRCm39) |
D73V |
possibly 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 |
|
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'- GCAGAGTTGTGTCATGAGCCCATTG -3'
(R):5'- TAGGGATCAGAGCACTGAGCTGTC -3'
Sequencing Primer
(F):5'- GGAAACAGCAGACTTTTTGGATAAC -3'
(R):5'- CAGAGCACTGAGCTGTCTCATAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation