Incidental Mutation 'R6042:Xpo7'
| ID |
483629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo7
|
| Ensembl Gene |
ENSMUSG00000022100 |
| Gene Name |
exportin 7 |
| Synonyms |
4930506C02Rik, Ranbp16 |
| MMRRC Submission |
044210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R6042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
70899566-71004075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70933103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 263
(Q263L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022696]
[ENSMUST00000167242]
[ENSMUST00000226448]
[ENSMUST00000228346]
|
| AlphaFold |
Q9EPK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022696
AA Change: Q263L
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Q263L
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167242
AA Change: Q263L
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Q263L
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
96 |
3.52e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226448
AA Change: Q263L
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228346
AA Change: Q264L
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,224,023 (GRCm39) |
K478M |
probably benign |
Het |
| Ankar |
G |
T |
1: 72,713,213 (GRCm39) |
S474* |
probably null |
Het |
| Barx2 |
C |
A |
9: 31,758,199 (GRCm39) |
E246D |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,997 (GRCm39) |
Q757L |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,944,751 (GRCm39) |
F380L |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,318,317 (GRCm39) |
A655T |
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,898,451 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,370,838 (GRCm39) |
R2340Q |
possibly damaging |
Het |
| Ctsb |
G |
T |
14: 63,379,305 (GRCm39) |
D306Y |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,633,664 (GRCm39) |
Y349D |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,117,886 (GRCm39) |
L22S |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,966,239 (GRCm39) |
M2476I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,228,053 (GRCm39) |
E1882G |
probably damaging |
Het |
| Esrp1 |
T |
C |
4: 11,357,580 (GRCm39) |
K511E |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 16,289,113 (GRCm39) |
T137S |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,436,079 (GRCm39) |
M318L |
probably benign |
Het |
| Fpr-rs7 |
T |
A |
17: 20,333,477 (GRCm39) |
T338S |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,425,584 (GRCm39) |
M1T |
probably null |
Het |
| Grifin |
C |
A |
5: 140,549,311 (GRCm39) |
R135L |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,504,946 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
G |
4: 119,955,061 (GRCm39) |
Q1126E |
possibly damaging |
Het |
| Htr3a |
T |
A |
9: 48,815,999 (GRCm39) |
H146L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,707,311 (GRCm39) |
V3081E |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,387,636 (GRCm39) |
C531S |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,979,619 (GRCm39) |
D106G |
probably benign |
Het |
| Nectin2 |
C |
T |
7: 19,472,063 (GRCm39) |
A109T |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,503 (GRCm39) |
S43P |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,390 (GRCm39) |
V86E |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,558 (GRCm39) |
R856G |
probably damaging |
Het |
| Phpt1 |
T |
A |
2: 25,464,851 (GRCm39) |
M1L |
probably benign |
Het |
| Polr2m |
T |
C |
9: 71,391,080 (GRCm39) |
I41V |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,631 (GRCm39) |
D123E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,977 (GRCm39) |
V127A |
possibly damaging |
Het |
| Rgs7 |
G |
T |
1: 174,977,226 (GRCm39) |
T126K |
probably damaging |
Het |
| RP23-399J5.1 |
T |
C |
8: 71,542,571 (GRCm39) |
|
noncoding transcript |
Het |
| Rras |
A |
T |
7: 44,669,820 (GRCm39) |
D112V |
probably damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,424,646 (GRCm39) |
Y5* |
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,461,433 (GRCm39) |
F462L |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,684,052 (GRCm39) |
K1436* |
probably null |
Het |
| Snrnp27 |
A |
C |
6: 86,659,902 (GRCm39) |
S31A |
unknown |
Het |
| Sqstm1 |
A |
C |
11: 50,098,251 (GRCm39) |
F172V |
probably benign |
Het |
| Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
| Syt10 |
G |
A |
15: 89,725,824 (GRCm39) |
T50I |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,504 (GRCm39) |
Y477H |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,638,153 (GRCm39) |
T437S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,555,842 (GRCm39) |
D845N |
probably benign |
Het |
| Uqcc1 |
G |
T |
2: 155,763,564 (GRCm39) |
S36R |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,391 (GRCm39) |
V239A |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,016 (GRCm39) |
K572E |
probably damaging |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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 |
|
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'- CTGGGTAACTAATCCTAGTGTGTTC -3'
(R):5'- GCCCCTTGAGAGTCAGAAAG -3'
Sequencing Primer
(F):5'- GAACAGAGATCGTTCTACCATCTGG -3'
(R):5'- GTCAGAAAGACAAACACTTCGTAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation