Incidental Mutation 'R0893:Xpo7'
| ID |
83617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
039056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R0893 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 70903537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022696
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,266,082 (GRCm39) |
|
probably benign |
Het |
| Adnp |
A |
T |
2: 168,025,647 (GRCm39) |
F549L |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
| Aldh8a1 |
T |
A |
10: 21,267,593 (GRCm39) |
M326K |
probably benign |
Het |
| Amdhd1 |
A |
T |
10: 93,363,513 (GRCm39) |
M295K |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,846,191 (GRCm39) |
C324S |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,238,119 (GRCm39) |
|
probably null |
Het |
| Cc2d1a |
T |
C |
8: 84,867,468 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
G |
A |
7: 142,616,242 (GRCm39) |
V27M |
possibly damaging |
Het |
| Ces1b |
A |
T |
8: 93,806,056 (GRCm39) |
S62T |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,077,031 (GRCm39) |
S30P |
probably damaging |
Het |
| Cmtm3 |
A |
G |
8: 105,070,543 (GRCm39) |
M101V |
possibly damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,280 (GRCm39) |
S269L |
probably benign |
Het |
| Ddx25 |
G |
A |
9: 35,465,686 (GRCm39) |
Q143* |
probably null |
Het |
| Dis3l2 |
T |
A |
1: 86,971,928 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
G |
T |
2: 156,587,898 (GRCm39) |
E598* |
probably null |
Het |
| Dus1l |
C |
T |
11: 120,680,262 (GRCm39) |
G471D |
possibly damaging |
Het |
| Elp4 |
C |
A |
2: 105,727,290 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,417,097 (GRCm39) |
N194S |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,732,639 (GRCm39) |
V629L |
possibly damaging |
Het |
| Hars2 |
G |
A |
18: 36,920,648 (GRCm39) |
A164T |
possibly damaging |
Het |
| Hexb |
T |
A |
13: 97,322,135 (GRCm39) |
I217L |
probably benign |
Het |
| Hgh1 |
A |
G |
15: 76,253,848 (GRCm39) |
|
probably null |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,757 (GRCm39) |
|
probably null |
Het |
| Ighg2c |
T |
A |
12: 113,251,053 (GRCm39) |
N321Y |
unknown |
Het |
| Il5 |
A |
G |
11: 53,611,763 (GRCm39) |
T34A |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,074,507 (GRCm39) |
E504* |
probably null |
Het |
| Kif2b |
G |
T |
11: 91,466,420 (GRCm39) |
T621K |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,268 (GRCm39) |
|
probably benign |
Het |
| Leprotl1 |
A |
G |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Lpar3 |
C |
T |
3: 145,946,348 (GRCm39) |
R9C |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
| Map2 |
C |
A |
1: 66,419,927 (GRCm39) |
T86K |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,149,629 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,701,713 (GRCm39) |
V1482A |
probably benign |
Het |
| Mks1 |
G |
A |
11: 87,747,777 (GRCm39) |
|
probably benign |
Het |
| Morf4l1 |
T |
G |
9: 89,984,403 (GRCm39) |
K102N |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,293,138 (GRCm39) |
V304D |
possibly damaging |
Het |
| Mtg1 |
G |
A |
7: 139,729,665 (GRCm39) |
V252M |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,427 (GRCm39) |
D264V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,334 (GRCm39) |
Y823C |
possibly damaging |
Het |
| Myoz1 |
A |
T |
14: 20,701,252 (GRCm39) |
S112R |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,150,445 (GRCm39) |
V860A |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Npffr1 |
T |
C |
10: 61,450,010 (GRCm39) |
F95L |
possibly damaging |
Het |
| Or51f1e |
G |
T |
7: 102,747,641 (GRCm39) |
R231L |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,492 (GRCm39) |
I126T |
probably damaging |
Het |
| Orc4 |
A |
C |
2: 48,822,622 (GRCm39) |
|
probably benign |
Het |
| P3h3 |
A |
C |
6: 124,822,476 (GRCm39) |
I565R |
probably damaging |
Het |
| Pak4 |
T |
C |
7: 28,259,202 (GRCm39) |
D552G |
probably benign |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,423 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
G |
T |
19: 53,917,525 (GRCm39) |
R454L |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,263 (GRCm39) |
I846M |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,771,231 (GRCm39) |
I1116T |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,555,586 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,230 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,887,252 (GRCm39) |
I32N |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,384,775 (GRCm39) |
K718E |
probably damaging |
Het |
| Racgap1 |
C |
T |
15: 99,524,411 (GRCm39) |
A359T |
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,523,798 (GRCm39) |
|
probably null |
Het |
| Rhpn1 |
A |
G |
15: 75,583,503 (GRCm39) |
E356G |
probably damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,540,697 (GRCm39) |
H488R |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,632,396 (GRCm39) |
|
probably null |
Het |
| Sema4f |
A |
T |
6: 82,912,948 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,660,094 (GRCm39) |
S63P |
probably damaging |
Het |
| Slc9a3 |
T |
C |
13: 74,307,365 (GRCm39) |
W386R |
probably damaging |
Het |
| Slc9b1 |
A |
C |
3: 135,100,651 (GRCm39) |
L465F |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,241,017 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,067,816 (GRCm39) |
D59E |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,302 (GRCm39) |
Y354H |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,461,956 (GRCm39) |
G1103D |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,957,687 (GRCm39) |
D34V |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,560,645 (GRCm39) |
L791P |
probably damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,641,926 (GRCm39) |
L174P |
probably damaging |
Het |
| Zbtb1 |
T |
A |
12: 76,432,113 (GRCm39) |
I33N |
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 |
|
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'- AACTGTTCACCCTCTGGACCAGAC -3'
(R):5'- ATCTGTGTTGCTGCCACAAGCC -3'
Sequencing Primer
(F):5'- ACCAAAGGGACGCTGCTC -3'
(R):5'- ATCTCTGGTCTGCCATGAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation