Incidental Mutation 'IGL01878:Xpo6'
| ID |
178937 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xpo6
|
| Ensembl Gene |
ENSMUSG00000000131 |
| Gene Name |
exportin 6 |
| Synonyms |
Ranbp20, 2610005L19Rik, C230091E20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
IGL01878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125700887-125799673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125773365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 20
(H20L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009344]
[ENSMUST00000163959]
[ENSMUST00000167147]
[ENSMUST00000168189]
|
| AlphaFold |
Q924Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009344
AA Change: H20L
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: H20L
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
31 |
97 |
4.04e-6 |
SMART |
|
Pfam:Xpo1
|
103 |
290 |
1.4e-29 |
PFAM |
|
low complexity region
|
469 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1034 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167147
AA Change: H20L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168189
AA Change: H20L
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: H20L
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
31 |
97 |
4.04e-6 |
SMART |
|
Pfam:Xpo1
|
103 |
290 |
1.1e-25 |
PFAM |
|
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1035 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169993
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox8 |
G |
T |
11: 69,087,864 (GRCm39) |
Q147K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,784,152 (GRCm39) |
M275L |
possibly damaging |
Het |
| Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
| B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
T |
C |
7: 57,466,163 (GRCm39) |
F326L |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
| Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
| H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
| Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
| Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
| Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
| Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
| Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
| Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
| Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
| Prpf40b |
T |
C |
15: 99,204,413 (GRCm39) |
C220R |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
| Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
| Telo2 |
G |
T |
17: 25,320,332 (GRCm39) |
T784K |
probably benign |
Het |
| Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
| Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably damaging |
Het |
|
| Other mutations in Xpo6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Xpo6
|
APN |
7 |
125,728,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01432:Xpo6
|
APN |
7 |
125,723,553 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01627:Xpo6
|
APN |
7 |
125,748,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02185:Xpo6
|
APN |
7 |
125,712,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL02744:Xpo6
|
APN |
7 |
125,707,620 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02927:Xpo6
|
APN |
7 |
125,755,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03216:Xpo6
|
APN |
7 |
125,703,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Anthracite
|
UTSW |
7 |
125,701,505 (GRCm39) |
nonsense |
probably null |
|
|
Bituminous
|
UTSW |
7 |
125,712,127 (GRCm39) |
splice site |
probably benign |
|
|
Cerise
|
UTSW |
7 |
125,708,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crayola
|
UTSW |
7 |
125,706,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
pastel
|
UTSW |
7 |
125,707,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Xpo6
|
UTSW |
7 |
125,728,715 (GRCm39) |
splice site |
probably benign |
|
|
R1671:Xpo6
|
UTSW |
7 |
125,707,715 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2349:Xpo6
|
UTSW |
7 |
125,712,875 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3051:Xpo6
|
UTSW |
7 |
125,703,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Xpo6
|
UTSW |
7 |
125,703,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Xpo6
|
UTSW |
7 |
125,703,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Xpo6
|
UTSW |
7 |
125,719,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4011:Xpo6
|
UTSW |
7 |
125,739,780 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4231:Xpo6
|
UTSW |
7 |
125,773,354 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4569:Xpo6
|
UTSW |
7 |
125,727,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Xpo6
|
UTSW |
7 |
125,712,924 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4736:Xpo6
|
UTSW |
7 |
125,739,755 (GRCm39) |
missense |
probably benign |
|
|
R4919:Xpo6
|
UTSW |
7 |
125,752,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4953:Xpo6
|
UTSW |
7 |
125,768,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Xpo6
|
UTSW |
7 |
125,703,919 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5590:Xpo6
|
UTSW |
7 |
125,706,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5856:Xpo6
|
UTSW |
7 |
125,748,674 (GRCm39) |
intron |
probably benign |
|
|
R6077:Xpo6
|
UTSW |
7 |
125,709,124 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6156:Xpo6
|
UTSW |
7 |
125,708,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Xpo6
|
UTSW |
7 |
125,707,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Xpo6
|
UTSW |
7 |
125,712,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Xpo6
|
UTSW |
7 |
125,770,262 (GRCm39) |
intron |
probably benign |
|
|
R7407:Xpo6
|
UTSW |
7 |
125,770,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7480:Xpo6
|
UTSW |
7 |
125,701,505 (GRCm39) |
nonsense |
probably null |
|
|
R7630:Xpo6
|
UTSW |
7 |
125,739,561 (GRCm39) |
splice site |
probably null |
|
|
R7794:Xpo6
|
UTSW |
7 |
125,760,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7984:Xpo6
|
UTSW |
7 |
125,719,616 (GRCm39) |
missense |
probably benign |
|
|
R8022:Xpo6
|
UTSW |
7 |
125,768,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8283:Xpo6
|
UTSW |
7 |
125,727,421 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8438:Xpo6
|
UTSW |
7 |
125,760,054 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8786:Xpo6
|
UTSW |
7 |
125,712,127 (GRCm39) |
splice site |
probably benign |
|
|
R9427:Xpo6
|
UTSW |
7 |
125,748,418 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Xpo6
|
UTSW |
7 |
125,723,700 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9711:Xpo6
|
UTSW |
7 |
125,712,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0012:Xpo6
|
UTSW |
7 |
125,768,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-05-07 |
Incidental Mutation