Incidental Mutation 'R3053:Xpo6'
| ID |
265036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo6
|
| Ensembl Gene |
ENSMUSG00000000131 |
| Gene Name |
exportin 6 |
| Synonyms |
Ranbp20, 2610005L19Rik, C230091E20Rik |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125700887-125799673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125703893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1086
(N1086D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009344]
[ENSMUST00000165608]
[ENSMUST00000166719]
[ENSMUST00000168189]
[ENSMUST00000171861]
|
| AlphaFold |
Q924Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009344
AA Change: N1086D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: N1086D
| 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: ENSMUST00000165608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165660
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166719
AA Change: N30D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168189
AA Change: N1087D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: N1087D
| 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 |
unknown
Transcript: ENSMUST00000168564
AA Change: N124D
|
| SMART Domains |
Protein: ENSMUSP00000129881
Gene: ENSMUSG00000000131
AA Change: N124D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171861
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
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 |
|
IGL01878:Xpo6
|
APN |
7 |
125,773,365 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCAAGTCCCTGAGGAAG -3'
(R):5'- ATGCTGTTCCAGTTCGTGAAC -3'
Sequencing Primer
(F):5'- GGAAGAAAGAGTGCACCCTCC -3'
(R):5'- CAGTTCGTGAACGTGCTGCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation