Incidental Mutation 'R6996:Xpo7'
| ID |
544239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
045102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R6996 (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 70906888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 939
(C939S)
|
| 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: C938S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: C938S
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: C939S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: C939S
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: C938S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: C939S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,296,517 (GRCm39) |
S310L |
probably damaging |
Het |
| Adamts16 |
C |
T |
13: 70,946,157 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
C |
A |
7: 99,240,569 (GRCm39) |
D194E |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,697,051 (GRCm39) |
D217G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,302,033 (GRCm39) |
I123V |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,180,321 (GRCm39) |
L1833F |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,122,355 (GRCm39) |
Y155C |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,853,380 (GRCm39) |
R126M |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,484,604 (GRCm39) |
R627L |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,720,030 (GRCm39) |
L369* |
probably null |
Het |
| Erich6 |
A |
C |
3: 58,543,516 (GRCm39) |
F185V |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,853,374 (GRCm39) |
D122G |
unknown |
Het |
| Fank1 |
A |
G |
7: 133,478,627 (GRCm39) |
I230M |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,977 (GRCm39) |
E668D |
unknown |
Het |
| Flg2 |
A |
C |
3: 93,110,256 (GRCm39) |
R761S |
unknown |
Het |
| Gabrr1 |
T |
C |
4: 33,158,157 (GRCm39) |
L260P |
probably damaging |
Het |
| Gfm2 |
G |
A |
13: 97,285,868 (GRCm39) |
R119K |
probably damaging |
Het |
| Gm14226 |
A |
G |
2: 154,866,357 (GRCm39) |
T105A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,997 (GRCm39) |
N357S |
probably damaging |
Het |
| Gm5916 |
G |
A |
9: 36,039,935 (GRCm39) |
L18F |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,790,058 (GRCm39) |
N247K |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,773,355 (GRCm39) |
A240T |
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,774 (GRCm39) |
M148V |
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,102 (GRCm39) |
S126G |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,337,380 (GRCm39) |
I393N |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,993,498 (GRCm39) |
D68G |
possibly damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,675,569 (GRCm39) |
T323A |
possibly damaging |
Het |
| Kcng2 |
T |
C |
18: 80,366,358 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,395,669 (GRCm39) |
P321T |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,938,558 (GRCm39) |
V345A |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,583 (GRCm39) |
L795* |
probably null |
Het |
| Mettl1 |
T |
C |
10: 126,880,887 (GRCm39) |
S193P |
probably benign |
Het |
| Mme |
G |
A |
3: 63,253,523 (GRCm39) |
D456N |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,367 (GRCm39) |
T883A |
probably benign |
Het |
| Mphosph10 |
C |
G |
7: 64,038,669 (GRCm39) |
E293Q |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,557,193 (GRCm39) |
K3033N |
unknown |
Het |
| Myo16 |
C |
T |
8: 10,619,496 (GRCm39) |
T1349M |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,157,746 (GRCm39) |
I233T |
probably benign |
Het |
| Or4p4b-ps1 |
A |
G |
2: 88,454,189 (GRCm39) |
T181A |
unknown |
Het |
| Or52a33 |
T |
G |
7: 103,289,065 (GRCm39) |
N94T |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,246,018 (GRCm39) |
F123L |
probably benign |
Het |
| Or5b111 |
A |
T |
19: 13,291,036 (GRCm39) |
S204R |
probably benign |
Het |
| Or5h22 |
A |
G |
16: 58,894,555 (GRCm39) |
M296T |
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,732 (GRCm39) |
V212E |
probably damaging |
Het |
| Or7c70 |
C |
A |
10: 78,683,351 (GRCm39) |
V133L |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,480 (GRCm39) |
I467V |
probably benign |
Het |
| Parp1 |
A |
T |
1: 180,414,936 (GRCm39) |
N425Y |
possibly damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,939,656 (GRCm39) |
V19D |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,833,423 (GRCm39) |
I260F |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,799,046 (GRCm39) |
G1789R |
probably damaging |
Het |
| Pla1a |
G |
A |
16: 38,217,830 (GRCm39) |
A386V |
probably benign |
Het |
| Pml |
A |
G |
9: 58,142,169 (GRCm39) |
L221P |
probably damaging |
Het |
| Rcn2 |
C |
T |
9: 55,964,845 (GRCm39) |
Q268* |
probably null |
Het |
| Reps1 |
T |
A |
10: 17,969,603 (GRCm39) |
D235E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,824,314 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,118,075 (GRCm39) |
S1433T |
probably damaging |
Het |
| Sde2 |
T |
C |
1: 180,678,754 (GRCm39) |
V6A |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,197,769 (GRCm39) |
R2141S |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,379,640 (GRCm39) |
S1152P |
probably damaging |
Het |
| Slc26a2 |
C |
T |
18: 61,334,926 (GRCm39) |
V176I |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,281 (GRCm39) |
I76T |
possibly damaging |
Het |
| Specc1l |
C |
A |
10: 75,082,113 (GRCm39) |
A520D |
probably benign |
Het |
| Spop |
A |
G |
11: 95,362,136 (GRCm39) |
T56A |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,074,786 (GRCm39) |
D4576E |
probably damaging |
Het |
| Tas2r134 |
A |
C |
2: 51,517,601 (GRCm39) |
M27L |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,278,082 (GRCm39) |
I1142S |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,316,611 (GRCm39) |
D311G |
possibly damaging |
Het |
| Tmem123 |
C |
G |
9: 7,791,071 (GRCm39) |
T124R |
possibly damaging |
Het |
| Tmem184b |
A |
T |
15: 79,246,959 (GRCm39) |
L370Q |
probably benign |
Het |
| Trim25 |
T |
A |
11: 88,890,329 (GRCm39) |
N5K |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,903 (GRCm39) |
Y187C |
probably damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,678 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,441 (GRCm39) |
S5P |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,764 (GRCm39) |
S271R |
probably benign |
Het |
| Zic5 |
A |
T |
14: 122,702,080 (GRCm39) |
M217K |
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 |
|
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'- AGGACATCTGCACAGTGAGATG -3'
(R):5'- CCATTTTAAAATCAGGCCCTGTG -3'
Sequencing Primer
(F):5'- AGACGCTCAACCACTGTGG -3'
(R):5'- TAAAATCAGGCCCTGTGTATCCTCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation