Incidental Mutation 'R6052:Xpo7'
ID |
484185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xpo7
|
Ensembl Gene |
ENSMUSG00000022100 |
Gene Name |
exportin 7 |
Synonyms |
4930506C02Rik, Ranbp16 |
MMRRC Submission |
044220-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R6052 (G1)
|
Quality Score |
210.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70921159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 603
(Y603C)
|
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: Y602C
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022696 Gene: ENSMUSG00000022100 AA Change: Y602C
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167242
AA Change: Y603C
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129504 Gene: ENSMUSG00000022100 AA Change: Y603C
Domain | Start | End | E-Value | Type |
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226448
AA Change: Y602C
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227550
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228346
AA Change: Y603C
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.1285 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
96% (80/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,537,165 (GRCm39) |
F473L |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,401,691 (GRCm39) |
I1449V |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,293,477 (GRCm39) |
L943* |
probably null |
Het |
Arap1 |
G |
A |
7: 101,053,240 (GRCm39) |
V1257M |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,230 (GRCm39) |
S53G |
probably benign |
Het |
Baiap3 |
A |
T |
17: 25,467,444 (GRCm39) |
|
probably benign |
Het |
Canx |
T |
C |
11: 50,187,946 (GRCm39) |
D554G |
possibly damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,352,501 (GRCm39) |
V165A |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,457,145 (GRCm39) |
|
probably null |
Het |
Cdcp1 |
A |
G |
9: 123,014,396 (GRCm39) |
I126T |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,800 (GRCm39) |
D1036E |
probably damaging |
Het |
Cfap157 |
A |
G |
2: 32,669,863 (GRCm39) |
L240P |
probably damaging |
Het |
Clec18a |
C |
A |
8: 111,805,448 (GRCm39) |
E218* |
probably null |
Het |
Col3a1 |
T |
C |
1: 45,384,173 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,794,227 (GRCm39) |
E682G |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,494,052 (GRCm39) |
V1736A |
possibly damaging |
Het |
Dpep2 |
T |
A |
8: 106,717,270 (GRCm39) |
D162V |
possibly damaging |
Het |
Drd3 |
C |
A |
16: 43,641,646 (GRCm39) |
P321T |
probably benign |
Het |
Egfr |
A |
G |
11: 16,861,554 (GRCm39) |
H1111R |
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,708,928 (GRCm39) |
S58P |
probably damaging |
Het |
Epha3 |
C |
A |
16: 63,423,967 (GRCm39) |
V541L |
possibly damaging |
Het |
Eri3 |
T |
A |
4: 117,421,825 (GRCm39) |
D34E |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,353,374 (GRCm39) |
D58G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,833,975 (GRCm39) |
S26C |
probably null |
Het |
Fgl1 |
T |
C |
8: 41,653,548 (GRCm39) |
D115G |
probably damaging |
Het |
Fitm2 |
T |
C |
2: 163,312,036 (GRCm39) |
Y59C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,912,725 (GRCm39) |
I3343N |
probably damaging |
Het |
Gba2 |
C |
A |
4: 43,568,330 (GRCm39) |
C679F |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,603 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
T |
A |
3: 16,044,917 (GRCm39) |
I103F |
probably damaging |
Het |
Hhipl2 |
T |
C |
1: 183,204,965 (GRCm39) |
S313P |
possibly damaging |
Het |
Hmgcs1 |
A |
G |
13: 120,166,995 (GRCm39) |
D474G |
probably benign |
Het |
Homer3 |
C |
T |
8: 70,744,076 (GRCm39) |
Q267* |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,246,429 (GRCm39) |
L118P |
probably damaging |
Het |
Igkv8-28 |
C |
T |
6: 70,120,673 (GRCm39) |
G90D |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,181,255 (GRCm39) |
I128F |
probably damaging |
Het |
Krt4 |
A |
G |
15: 101,831,194 (GRCm39) |
|
probably null |
Het |
Lamb2 |
T |
A |
9: 108,364,811 (GRCm39) |
C1188* |
probably null |
Het |
Lsr |
A |
T |
7: 30,658,042 (GRCm39) |
M355K |
probably damaging |
Het |
Map3k11 |
T |
G |
19: 5,747,430 (GRCm39) |
D555E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,087,082 (GRCm39) |
Y282H |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,261,176 (GRCm39) |
I7M |
probably benign |
Het |
Nprl3 |
G |
T |
11: 32,205,453 (GRCm39) |
H102N |
possibly damaging |
Het |
Nup62 |
T |
A |
7: 44,478,464 (GRCm39) |
F160I |
possibly damaging |
Het |
Or10w1 |
C |
A |
19: 13,631,871 (GRCm39) |
P26Q |
possibly damaging |
Het |
Or2d3c |
A |
T |
7: 106,525,896 (GRCm39) |
F257I |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,463,588 (GRCm39) |
T180S |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,945 (GRCm39) |
S71P |
probably benign |
Het |
Or6c35 |
C |
A |
10: 129,169,071 (GRCm39) |
T107K |
possibly damaging |
Het |
Osbpl10 |
T |
C |
9: 114,896,383 (GRCm39) |
|
probably null |
Het |
Pcdh9 |
C |
T |
14: 94,123,282 (GRCm39) |
V963I |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,909,044 (GRCm39) |
R375G |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,233,008 (GRCm39) |
T108M |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,779,635 (GRCm39) |
Q269L |
probably benign |
Het |
Pomgnt1 |
T |
A |
4: 116,008,799 (GRCm39) |
N11K |
possibly damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,222 (GRCm39) |
D158V |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,413,083 (GRCm39) |
|
probably null |
Het |
Prpf40a |
T |
C |
2: 53,049,293 (GRCm39) |
T190A |
probably benign |
Het |
Prrc2b |
A |
C |
2: 32,102,297 (GRCm39) |
H790P |
possibly damaging |
Het |
Rest |
T |
G |
5: 77,429,027 (GRCm39) |
V482G |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,039,999 (GRCm39) |
I322L |
probably benign |
Het |
Rpl18 |
G |
A |
7: 45,369,554 (GRCm39) |
|
probably benign |
Het |
Rsad2 |
G |
A |
12: 26,500,577 (GRCm39) |
H237Y |
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,040,741 (GRCm39) |
L362S |
probably damaging |
Het |
Sgsm3 |
A |
G |
15: 80,893,464 (GRCm39) |
T409A |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,890,430 (GRCm39) |
T292A |
possibly damaging |
Het |
Spg11 |
T |
G |
2: 121,927,837 (GRCm39) |
K649T |
probably damaging |
Het |
Srprb |
T |
A |
9: 103,067,415 (GRCm39) |
I268F |
possibly damaging |
Het |
Tap2 |
G |
A |
17: 34,433,683 (GRCm39) |
G566S |
probably damaging |
Het |
Tecpr2 |
T |
C |
12: 110,885,325 (GRCm39) |
V168A |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,330,890 (GRCm39) |
L50H |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,194 (GRCm39) |
I738T |
probably damaging |
Het |
Tspan12 |
T |
C |
6: 21,772,637 (GRCm39) |
E304G |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,559,271 (GRCm39) |
G1671S |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,782 (GRCm39) |
S600G |
possibly damaging |
Het |
Wnt3 |
C |
A |
11: 103,699,000 (GRCm39) |
Y35* |
probably null |
Het |
Zfp457 |
G |
A |
13: 67,442,015 (GRCm39) |
H91Y |
probably damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,250 (GRCm39) |
C215S |
unknown |
Het |
Zfp882 |
G |
A |
8: 72,668,349 (GRCm39) |
G392D |
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 |
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 |
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'- AGATTCTGTGTACATATTGCCTTGG -3'
(R):5'- GGCCAGTGTAGCTTTGGAAC -3'
Sequencing Primer
(F):5'- ACATATTGCCTTGGGTGCCAG -3'
(R):5'- AGCCAAAGTCTCTCTTGC -3'
|
Posted On |
2017-07-14 |