Incidental Mutation 'R7095:Xpo7'
| ID |
550446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
045243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7095 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70942146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 73
(R73W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022696
AA Change: R73W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: R73W
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: R73W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: R73W
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: R73W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228346
AA Change: R74W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (71/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,268,403 (GRCm39) |
V809A |
possibly damaging |
Het |
| Adam32 |
T |
A |
8: 25,404,086 (GRCm39) |
D242V |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,864,672 (GRCm39) |
H763L |
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,990,951 (GRCm39) |
D967G |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,491,950 (GRCm39) |
L17Q |
possibly damaging |
Het |
| Appbp2 |
G |
T |
11: 85,125,553 (GRCm39) |
S28* |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,952,411 (GRCm39) |
|
probably null |
Het |
| Capn5 |
G |
A |
7: 97,775,038 (GRCm39) |
T534I |
probably benign |
Het |
| Cbx2 |
T |
C |
11: 118,918,885 (GRCm39) |
I150T |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,384,899 (GRCm39) |
V392A |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,373 (GRCm39) |
C803S |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,905 (GRCm39) |
T114A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,121,629 (GRCm39) |
D994E |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,941,652 (GRCm39) |
W584C |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dgkh |
C |
A |
14: 78,865,224 (GRCm39) |
M172I |
probably benign |
Het |
| Dpy19l2 |
T |
G |
9: 24,607,110 (GRCm39) |
H117P |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,748,153 (GRCm39) |
N908K |
probably benign |
Het |
| Erc2 |
A |
T |
14: 27,620,550 (GRCm39) |
N393Y |
probably damaging |
Het |
| Fam118b |
T |
C |
9: 35,132,786 (GRCm39) |
E291G |
possibly damaging |
Het |
| Fam193a |
C |
T |
5: 34,615,378 (GRCm39) |
L816F |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,157 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fndc10 |
C |
T |
4: 155,779,574 (GRCm39) |
T206I |
probably damaging |
Het |
| Fzd1 |
GGGACTCCTCCACCTCCCTGGA |
GGGA |
5: 4,805,824 (GRCm39) |
|
probably benign |
Het |
| Gsk3a |
A |
T |
7: 24,933,279 (GRCm39) |
Y177N |
probably damaging |
Het |
| Haus5 |
T |
C |
7: 30,358,997 (GRCm39) |
T222A |
probably benign |
Het |
| Igfbp7 |
G |
T |
5: 77,549,337 (GRCm39) |
Q189K |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,476,663 (GRCm39) |
Y771* |
probably null |
Het |
| Iqck |
A |
T |
7: 118,514,814 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,267,819 (GRCm39) |
C132* |
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,411 (GRCm39) |
V277G |
probably benign |
Het |
| Klhl22 |
G |
A |
16: 17,610,614 (GRCm39) |
V622M |
probably damaging |
Het |
| Kri1 |
C |
T |
9: 21,190,728 (GRCm39) |
E378K |
|
Het |
| Lilra6 |
C |
T |
7: 3,916,196 (GRCm39) |
G221D |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,035,103 (GRCm39) |
E191G |
probably damaging |
Het |
| Mgrn1 |
T |
A |
16: 4,745,528 (GRCm39) |
|
probably null |
Het |
| Mical1 |
C |
T |
10: 41,355,206 (GRCm39) |
|
probably null |
Het |
| Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,301,260 (GRCm39) |
H535L |
|
Het |
| Mtarc1 |
A |
G |
1: 184,527,437 (GRCm39) |
L297P |
probably damaging |
Het |
| Mtfr2 |
C |
A |
10: 20,228,666 (GRCm39) |
H71N |
probably benign |
Het |
| Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,992,272 (GRCm39) |
Q1582R |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,067,635 (GRCm39) |
E6062K |
possibly damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,063,792 (GRCm39) |
A67T |
probably damaging |
Het |
| Noc3l |
T |
A |
19: 38,800,789 (GRCm39) |
H231L |
probably benign |
Het |
| Odf1 |
T |
C |
15: 38,219,803 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Or52e2 |
G |
A |
7: 102,804,537 (GRCm39) |
T139I |
probably damaging |
Het |
| Or52s1b |
C |
T |
7: 102,822,253 (GRCm39) |
R197H |
probably benign |
Het |
| Or5j3 |
C |
T |
2: 86,129,021 (GRCm39) |
P287L |
probably benign |
Het |
| Otol1 |
G |
T |
3: 69,926,027 (GRCm39) |
E67D |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,554 (GRCm39) |
S598G |
probably benign |
Het |
| Ppwd1 |
T |
A |
13: 104,342,134 (GRCm39) |
T607S |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,569,714 (GRCm39) |
N99S |
probably benign |
Het |
| Ralgds |
C |
A |
2: 28,439,320 (GRCm39) |
Q737K |
possibly damaging |
Het |
| Scyl2 |
T |
C |
10: 89,505,549 (GRCm39) |
H98R |
probably damaging |
Het |
| Secisbp2 |
A |
C |
13: 51,831,290 (GRCm39) |
Q575H |
probably benign |
Het |
| Slc9a5 |
A |
T |
8: 106,084,268 (GRCm39) |
H497L |
probably benign |
Het |
| Sufu |
T |
A |
19: 46,464,027 (GRCm39) |
V414E |
probably damaging |
Het |
| Tbc1d22b |
A |
T |
17: 29,818,843 (GRCm39) |
E399V |
probably damaging |
Het |
| Tcp10c |
G |
A |
17: 13,576,196 (GRCm39) |
V59I |
probably benign |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,368 (GRCm39) |
S348P |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,490,928 (GRCm39) |
F176L |
probably damaging |
Het |
| Trav6-2 |
A |
G |
14: 52,905,291 (GRCm39) |
D104G |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,860,538 (GRCm39) |
K927R |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,221,720 (GRCm39) |
D158E |
probably benign |
Het |
| Xpnpep1 |
C |
T |
19: 53,000,196 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
A |
T |
18: 65,815,969 (GRCm39) |
M781L |
probably benign |
Het |
| Zfp930 |
T |
A |
8: 69,681,193 (GRCm39) |
I295K |
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 |
|
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 |
|
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'- CCCCAGGTATCAGTGACAATAA -3'
(R):5'- CTTTCATTCTAATGCTGTACTGCAG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGTACTGCAGAAATGTCACAAGATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation