Incidental Mutation 'R7061:Xpo7'
| ID |
548284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
045384-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R7061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70908512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 876
(I876V)
|
| 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: I875V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: I875V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: I876V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: I876V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: I875V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: I876V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (68/69) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
G |
A |
15: 51,903,617 (GRCm39) |
M13I |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,841,509 (GRCm39) |
Y979D |
probably damaging |
Het |
| Adgrb1 |
G |
C |
15: 74,441,730 (GRCm39) |
V4L |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,110,757 (GRCm39) |
R1006Q |
unknown |
Het |
| Bpifa6 |
A |
T |
2: 153,834,236 (GRCm39) |
T343S |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,724,793 (GRCm39) |
C2957* |
probably null |
Het |
| Chd6 |
G |
A |
2: 160,867,885 (GRCm39) |
Q428* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,915,690 (GRCm39) |
C191* |
probably null |
Het |
| Cpox |
A |
G |
16: 58,491,223 (GRCm39) |
I145V |
possibly damaging |
Het |
| Csnk2a1 |
C |
T |
2: 152,116,091 (GRCm39) |
R268C |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,739,038 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,504,386 (GRCm39) |
E909G |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,228,489 (GRCm39) |
S414T |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,007,703 (GRCm39) |
F1502S |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,558,951 (GRCm39) |
A448S |
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,410,066 (GRCm39) |
N511K |
probably benign |
Het |
| Epc2 |
G |
T |
2: 49,425,334 (GRCm39) |
R108L |
probably damaging |
Het |
| Erp44 |
T |
A |
4: 48,219,375 (GRCm39) |
I147F |
probably benign |
Het |
| Evc |
T |
C |
5: 37,476,446 (GRCm39) |
T368A |
possibly damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,452,448 (GRCm39) |
R738S |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,518 (GRCm39) |
T305A |
probably damaging |
Het |
| Grk5 |
A |
G |
19: 61,034,530 (GRCm39) |
T93A |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,528,424 (GRCm39) |
N153K |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,540,003 (GRCm39) |
T1007A |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,307 (GRCm39) |
L162P |
probably damaging |
Het |
| Hmgcr |
T |
A |
13: 96,802,656 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,163,691 (GRCm39) |
K218E |
unknown |
Het |
| Hydin |
A |
T |
8: 111,329,920 (GRCm39) |
I4885F |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,457,768 (GRCm39) |
|
probably null |
Het |
| Igfals |
T |
C |
17: 25,099,281 (GRCm39) |
L124P |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,811,108 (GRCm39) |
H142L |
possibly damaging |
Het |
| Iqca1l |
A |
G |
5: 24,750,063 (GRCm39) |
M660T |
probably benign |
Het |
| Kcnh2 |
A |
T |
5: 24,536,920 (GRCm39) |
H221Q |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,796,331 (GRCm39) |
S454P |
probably damaging |
Het |
| Meiosin |
A |
T |
7: 18,834,053 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b1 |
C |
T |
10: 39,879,382 (GRCm39) |
V172M |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,946,008 (GRCm39) |
I763K |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,749 (GRCm39) |
I594M |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,897,724 (GRCm39) |
R77S |
possibly damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,502,780 (GRCm39) |
I265M |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,587,883 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,782 (GRCm39) |
Y264C |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,942 (GRCm39) |
V276D |
possibly damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,864,976 (GRCm39) |
P257Q |
probably benign |
Het |
| Phactr1 |
A |
G |
13: 43,286,457 (GRCm39) |
D586G |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 29,973,548 (GRCm39) |
|
probably null |
Het |
| Prob1 |
A |
T |
18: 35,787,553 (GRCm39) |
S234T |
probably benign |
Het |
| Rab14 |
A |
T |
2: 35,073,429 (GRCm39) |
L131* |
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rhebl1 |
A |
G |
15: 98,777,164 (GRCm39) |
L103P |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,395,149 (GRCm39) |
F146L |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,087 (GRCm39) |
K360R |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,261 (GRCm39) |
T575I |
probably benign |
Het |
| Smo |
A |
G |
6: 29,760,229 (GRCm39) |
H776R |
probably damaging |
Het |
| Speer1f |
T |
C |
5: 11,469,071 (GRCm39) |
V74A |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,012,914 (GRCm39) |
M1V |
probably null |
Het |
| Ttn |
C |
A |
2: 76,725,036 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,240 (GRCm39) |
M130L |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,755,036 (GRCm39) |
H248Y |
probably benign |
Het |
| Vit |
A |
T |
17: 78,932,585 (GRCm39) |
N564I |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,310 (GRCm39) |
Y263* |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,620 (GRCm39) |
Y609F |
probably damaging |
Het |
| Zfp442 |
A |
G |
2: 150,249,937 (GRCm39) |
I655T |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,779,622 (GRCm39) |
C215S |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,069 (GRCm39) |
T173A |
probably benign |
Het |
| Zfp69 |
A |
T |
4: 120,788,598 (GRCm39) |
V239D |
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 |
|
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 |
|
|
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'- TGGGGTAATCCTGAGCAGAG -3'
(R):5'- AGGTGCCAAAGGATCAGGTC -3'
Sequencing Primer
(F):5'- AGACCAGGCTGTTCTTGAAC -3'
(R):5'- CCAAAGGATCAGGTCTATGCTTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation