Incidental Mutation 'R6938:Xpo7'
| ID |
540402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
045052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R6938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70903464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1082
(N1082D)
|
| 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
AA Change: N1081D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: N1081D
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: N1082D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: N1082D
| 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
AA Change: N1082D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,351 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
C |
3: 97,082,949 (GRCm39) |
M320T |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
| Angpt2 |
G |
T |
8: 18,748,105 (GRCm39) |
S385* |
probably null |
Het |
| Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
| Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
| Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
| Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
| Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
| Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
| Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
| Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
| Klk1b26 |
A |
T |
7: 43,665,718 (GRCm39) |
T177S |
probably benign |
Het |
| Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
| Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
| Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
| Or13e8 |
C |
T |
4: 43,696,286 (GRCm39) |
V296M |
probably damaging |
Het |
| Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
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 |
|
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'- TCTGGGGAAATAGCTGGTTGAC -3'
(R):5'- GGTGTAAATAAGACCACCTTTCC -3'
Sequencing Primer
(F):5'- AAATAGCTGGTTGACTTTTGCC -3'
(R):5'- CCCTAATAGTTCTGAGACTACGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation