Incidental Mutation 'R6725:Xpo7'
ID |
529839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo7
|
Ensembl Gene |
ENSMUSG00000022100 |
Gene Name |
exportin 7 |
Synonyms |
4930506C02Rik, Ranbp16 |
MMRRC Submission |
044843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R6725 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70914253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 748
(Y748N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
AlphaFold |
Q9EPK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022696
AA Change: Y747N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022696 Gene: ENSMUSG00000022100 AA Change: Y747N
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: Y748N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129504 Gene: ENSMUSG00000022100 AA Change: Y748N
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: Y747N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: Y748N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (55/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
T |
C |
8: 114,469,833 (GRCm39) |
Y623C |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,585,676 (GRCm39) |
E4596G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,641,329 (GRCm39) |
C3267S |
probably damaging |
Het |
Ankrd40 |
T |
G |
11: 94,225,641 (GRCm39) |
V224G |
probably benign |
Het |
Ap3s2 |
C |
T |
7: 79,570,390 (GRCm39) |
|
probably benign |
Het |
Apip |
T |
A |
2: 102,922,870 (GRCm39) |
D229E |
possibly damaging |
Het |
Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
Bcan |
T |
C |
3: 87,902,791 (GRCm39) |
K329R |
possibly damaging |
Het |
Camk1g |
T |
C |
1: 193,032,628 (GRCm39) |
D261G |
possibly damaging |
Het |
Ccdc30 |
T |
A |
4: 119,188,796 (GRCm39) |
Q490L |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,896,261 (GRCm39) |
W103R |
probably damaging |
Het |
Ctsl |
T |
A |
13: 64,514,437 (GRCm39) |
R69* |
probably null |
Het |
Dchs1 |
C |
T |
7: 105,408,000 (GRCm39) |
R1944H |
probably damaging |
Het |
Fgb |
T |
C |
3: 82,951,098 (GRCm39) |
Y305C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
Gal3st2 |
T |
A |
1: 93,801,424 (GRCm39) |
S27T |
probably benign |
Het |
Galnt13 |
A |
G |
2: 54,745,244 (GRCm39) |
D228G |
probably damaging |
Het |
Gk5 |
A |
T |
9: 96,037,523 (GRCm39) |
T346S |
probably benign |
Het |
Gnrhr |
T |
C |
5: 86,333,172 (GRCm39) |
I233V |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,738,568 (GRCm39) |
Y1465C |
probably damaging |
Het |
H6pd |
A |
G |
4: 150,080,815 (GRCm39) |
L10P |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Ighv7-4 |
A |
T |
12: 114,186,489 (GRCm39) |
D94E |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 192,986,890 (GRCm39) |
Y59H |
probably benign |
Het |
Msantd1 |
C |
T |
5: 35,078,765 (GRCm39) |
T100I |
probably damaging |
Het |
Msx3 |
T |
A |
7: 139,628,659 (GRCm39) |
|
probably benign |
Het |
Mttp |
C |
A |
3: 137,812,999 (GRCm39) |
A559S |
probably damaging |
Het |
Myh1 |
C |
G |
11: 67,092,719 (GRCm39) |
D4E |
probably damaging |
Het |
Or2ah1 |
A |
G |
2: 85,654,134 (GRCm39) |
K273R |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,959,561 (GRCm39) |
D211V |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,223,381 (GRCm39) |
Y65H |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,860,315 (GRCm39) |
Y457F |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pja2 |
A |
T |
17: 64,596,962 (GRCm39) |
M514K |
probably damaging |
Het |
Plcxd2 |
T |
C |
16: 45,792,488 (GRCm39) |
N284D |
probably damaging |
Het |
Polr3d |
A |
T |
14: 70,678,577 (GRCm39) |
M129K |
probably benign |
Het |
Ppp1r42 |
T |
G |
1: 10,069,732 (GRCm39) |
E110A |
probably damaging |
Het |
Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
Prelid2 |
A |
G |
18: 42,045,514 (GRCm39) |
I132T |
possibly damaging |
Het |
Sergef |
G |
A |
7: 46,282,091 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
C |
A |
4: 87,145,119 (GRCm39) |
|
probably null |
Het |
Stxbp3 |
A |
T |
3: 108,734,916 (GRCm39) |
D24E |
possibly damaging |
Het |
Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
Thsd7a |
G |
A |
6: 12,555,630 (GRCm39) |
H85Y |
possibly damaging |
Het |
Tlr2 |
T |
A |
3: 83,745,603 (GRCm39) |
E160V |
probably benign |
Het |
Tmem171 |
A |
T |
13: 98,828,678 (GRCm39) |
C157* |
probably null |
Het |
Trpm3 |
T |
C |
19: 22,903,392 (GRCm39) |
Y1051H |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,491,408 (GRCm39) |
F280L |
probably benign |
Het |
Zan |
T |
C |
5: 137,436,782 (GRCm39) |
S2024G |
unknown |
Het |
Zfhx2 |
A |
T |
14: 55,301,539 (GRCm39) |
Y2148* |
probably null |
Het |
Zscan4-ps1 |
T |
C |
7: 10,799,906 (GRCm39) |
T328A |
probably benign |
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 |
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'- TCTGCAAATTTGATAGTAGTGCGTG -3'
(R):5'- CGGAGTACGCTGTGTTCTTC -3'
Sequencing Primer
(F):5'- TGCGTGCACCACAATCTG -3'
(R):5'- CGCTGTGTTCTTCAAAATAAAAGCAC -3'
|
Posted On |
2018-08-01 |