Incidental Mutation 'R9385:Xpo7'
| ID |
710289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R9385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70925733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 435
(D435E)
|
| 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: D435E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: D435E
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167242
AA Change: D436E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: D436E
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226448
AA Change: D435E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228346
AA Change: D436E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,207,966 (GRCm39) |
I554T |
possibly damaging |
Het |
| Adamts7 |
C |
A |
9: 90,077,258 (GRCm39) |
C1308* |
probably null |
Het |
| Ank2 |
A |
G |
3: 126,753,366 (GRCm39) |
V305A |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,399 (GRCm39) |
N1627S |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,887 (GRCm39) |
Q1310L |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,322,551 (GRCm39) |
Y29* |
probably null |
Het |
| Card11 |
C |
A |
5: 140,871,276 (GRCm39) |
R742S |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,405,422 (GRCm39) |
D365G |
probably benign |
Het |
| Ccdc88b |
G |
A |
19: 6,833,533 (GRCm39) |
R211W |
probably benign |
Het |
| Cda |
T |
G |
4: 138,078,598 (GRCm39) |
I55L |
probably benign |
Het |
| Cdkl3 |
A |
C |
11: 51,926,779 (GRCm39) |
E577D |
probably benign |
Het |
| Cel |
T |
C |
2: 28,450,587 (GRCm39) |
D146G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,878 (GRCm39) |
L919S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,880 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,455,912 (GRCm39) |
S202L |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,473 (GRCm39) |
Q1045* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 16,034,756 (GRCm39) |
T2472A |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,601,069 (GRCm39) |
R22C |
probably benign |
Het |
| Ddit4 |
A |
G |
10: 59,787,178 (GRCm39) |
S53P |
probably damaging |
Het |
| Ddx52 |
G |
T |
11: 83,843,096 (GRCm39) |
C365F |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,361,972 (GRCm39) |
L3677I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,840,203 (GRCm39) |
T135A |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,207,185 (GRCm39) |
D216E |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,819,793 (GRCm39) |
D5175E |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,074,120 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Gm3264 |
T |
C |
14: 16,058,217 (GRCm39) |
I8T |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,675,486 (GRCm39) |
Y110N |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,413 (GRCm39) |
N286S |
probably benign |
Het |
| H2ac1 |
A |
T |
13: 24,118,679 (GRCm39) |
I79F |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,421,423 (GRCm39) |
D441G |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,994,349 (GRCm39) |
D762G |
probably damaging |
Het |
| Hyou1 |
C |
A |
9: 44,292,812 (GRCm39) |
Q141K |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,993 (GRCm39) |
I267T |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,396 (GRCm39) |
K770E |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,316,144 (GRCm39) |
R14H |
probably damaging |
Het |
| Nfxl1 |
C |
A |
5: 72,694,750 (GRCm39) |
V478F |
probably benign |
Het |
| Nhlrc3 |
A |
G |
3: 53,361,015 (GRCm39) |
W247R |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,876 (GRCm39) |
G527D |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,988,584 (GRCm39) |
E342G |
probably benign |
Het |
| Ntn1 |
C |
A |
11: 68,276,013 (GRCm39) |
G312C |
probably damaging |
Het |
| Opcml |
T |
C |
9: 28,586,459 (GRCm39) |
V59A |
possibly damaging |
Het |
| Opn1sw |
T |
G |
6: 29,379,425 (GRCm39) |
Y193S |
probably damaging |
Het |
| Or10ad1c |
C |
T |
15: 98,085,486 (GRCm39) |
S64N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,780 (GRCm39) |
*311K |
probably null |
Het |
| Pabpc4l |
A |
T |
3: 46,401,137 (GRCm39) |
V169E |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,982 (GRCm39) |
D1017G |
probably benign |
Het |
| Plagl2 |
C |
T |
2: 153,074,238 (GRCm39) |
C221Y |
probably damaging |
Het |
| Plppr4 |
G |
T |
3: 117,116,377 (GRCm39) |
N493K |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,431,724 (GRCm39) |
V571A |
possibly damaging |
Het |
| Pnma2 |
A |
G |
14: 67,153,371 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,929,467 (GRCm39) |
E1234D |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,528,561 (GRCm39) |
S74G |
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,645,563 (GRCm39) |
I330T |
probably damaging |
Het |
| Snrk |
A |
T |
9: 121,995,463 (GRCm39) |
D414V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,079,978 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
T |
C |
13: 59,863,403 (GRCm39) |
S184P |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 133,032,241 (GRCm39) |
N172K |
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,700,356 (GRCm39) |
Q858K |
probably damaging |
Het |
| Tex55 |
T |
G |
16: 38,648,407 (GRCm39) |
D234A |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,044,209 (GRCm39) |
C102R |
unknown |
Het |
| Ugt8a |
A |
T |
3: 125,665,263 (GRCm39) |
D411E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,399,223 (GRCm39) |
D2404G |
|
Het |
| Vmn1r10 |
A |
C |
6: 57,090,833 (GRCm39) |
I142L |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,240,367 (GRCm39) |
T352A |
|
Het |
| Zmym1 |
A |
G |
4: 126,952,683 (GRCm39) |
S33P |
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 |
|
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 |
|
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'- GACAGTACCTATGCTCACTGC -3'
(R):5'- AAGCATAAGACTGCCAGGTTC -3'
Sequencing Primer
(F):5'- CACACTGCACTCACCCTCCTG -3'
(R):5'- GGTCAATAAACTATCTGATGCTGGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation