Incidental Mutation 'R8144:Xpo5'
| ID |
632711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xpo5
|
| Ensembl Gene |
ENSMUSG00000067150 |
| Gene Name |
exportin 5 |
| Synonyms |
Exp5, 2410004H11Rik, 2700038C24Rik |
| MMRRC Submission |
067572-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46513737-46554524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46519145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 195
(N195D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087031]
|
| AlphaFold |
Q924C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087031
AA Change: N195D
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: N195D
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
33 |
100 |
6.73e-3 |
SMART |
|
Pfam:Xpo1
|
109 |
271 |
1.4e-34 |
PFAM |
|
low complexity region
|
326 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
779 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 98.0%
- 20x: 90.8%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
C |
9: 57,166,388 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,546,962 (GRCm39) |
D389G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,319 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
G |
A |
13: 68,882,754 (GRCm39) |
Q328* |
probably null |
Het |
| Arhgef40 |
T |
A |
14: 52,235,632 (GRCm39) |
V1171E |
probably damaging |
Het |
| Arrb1 |
G |
A |
7: 99,247,659 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
G |
A |
8: 110,459,233 (GRCm39) |
A343V |
probably benign |
Het |
| C3 |
A |
T |
17: 57,533,276 (GRCm39) |
V109E |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,367,827 (GRCm39) |
V595E |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,474 (GRCm39) |
S175P |
probably damaging |
Het |
| Eif2b1 |
A |
T |
5: 124,711,208 (GRCm39) |
M187K |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,537,911 (GRCm39) |
L533P |
probably damaging |
Het |
| Fam221b |
T |
G |
4: 43,665,465 (GRCm39) |
Q331P |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,466 (GRCm39) |
Q331K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,333,745 (GRCm39) |
V127A |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,708,893 (GRCm39) |
P1719L |
unknown |
Het |
| Lars1 |
T |
G |
18: 42,351,591 (GRCm39) |
H871P |
probably damaging |
Het |
| Mamdc4 |
A |
T |
2: 25,457,019 (GRCm39) |
V590E |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,037 (GRCm39) |
I457T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,039 (GRCm39) |
V717A |
probably benign |
Het |
| Or1p1c |
C |
A |
11: 74,160,384 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or8d2b |
A |
T |
9: 38,788,662 (GRCm39) |
L63F |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,054,537 (GRCm39) |
Q170L |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,742 (GRCm39) |
A1489D |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,359,278 (GRCm39) |
I15N |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,205,985 (GRCm39) |
E26A |
probably damaging |
Het |
| Poglut2 |
A |
G |
1: 44,149,966 (GRCm39) |
Y408H |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,849,846 (GRCm39) |
P367S |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,927,600 (GRCm39) |
V817E |
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,663 (GRCm39) |
D99G |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,848,542 (GRCm39) |
S556C |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,125,388 (GRCm39) |
V653L |
possibly damaging |
Het |
| Rin2 |
G |
A |
2: 145,664,225 (GRCm39) |
R33Q |
probably benign |
Het |
| Rmc1 |
A |
T |
18: 12,318,704 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
C |
T |
18: 42,274,124 (GRCm39) |
T430I |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,227,759 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
C |
T |
3: 135,590,404 (GRCm39) |
Q366* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,130,433 (GRCm39) |
L859* |
probably null |
Het |
| Tagln3 |
G |
T |
16: 45,544,554 (GRCm39) |
A39D |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,423,015 (GRCm39) |
C307S |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,945 (GRCm39) |
S644P |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,558,761 (GRCm39) |
D723G |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,733,694 (GRCm39) |
Y589C |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,172 (GRCm39) |
T452A |
probably benign |
Het |
|
| Other mutations in Xpo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Xpo5
|
APN |
17 |
46,535,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00650:Xpo5
|
APN |
17 |
46,519,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Xpo5
|
APN |
17 |
46,515,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Xpo5
|
APN |
17 |
46,553,133 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01929:Xpo5
|
APN |
17 |
46,513,855 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02433:Xpo5
|
APN |
17 |
46,550,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02550:Xpo5
|
APN |
17 |
46,540,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02637:Xpo5
|
APN |
17 |
46,546,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Xpo5
|
APN |
17 |
46,519,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03004:Xpo5
|
APN |
17 |
46,518,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Xpo5
|
APN |
17 |
46,526,740 (GRCm39) |
splice site |
probably null |
|
|
IGL03296:Xpo5
|
APN |
17 |
46,532,320 (GRCm39) |
nonsense |
probably null |
|
|
fortify
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
fortissimo
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
PIT4403001:Xpo5
|
UTSW |
17 |
46,550,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0009:Xpo5
|
UTSW |
17 |
46,515,712 (GRCm39) |
splice site |
probably benign |
|
|
R0009:Xpo5
|
UTSW |
17 |
46,515,712 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Xpo5
|
UTSW |
17 |
46,551,101 (GRCm39) |
missense |
probably benign |
|
|
R0276:Xpo5
|
UTSW |
17 |
46,552,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Xpo5
|
UTSW |
17 |
46,532,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Xpo5
|
UTSW |
17 |
46,533,576 (GRCm39) |
splice site |
probably benign |
|
|
R1440:Xpo5
|
UTSW |
17 |
46,518,853 (GRCm39) |
splice site |
probably benign |
|
|
R1506:Xpo5
|
UTSW |
17 |
46,538,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1513:Xpo5
|
UTSW |
17 |
46,537,906 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2060:Xpo5
|
UTSW |
17 |
46,536,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2259:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2260:Xpo5
|
UTSW |
17 |
46,551,822 (GRCm39) |
nonsense |
probably null |
|
|
R2263:Xpo5
|
UTSW |
17 |
46,541,269 (GRCm39) |
missense |
probably benign |
|
|
R3016:Xpo5
|
UTSW |
17 |
46,531,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R3150:Xpo5
|
UTSW |
17 |
46,553,173 (GRCm39) |
splice site |
probably null |
|
|
R4613:Xpo5
|
UTSW |
17 |
46,547,889 (GRCm39) |
missense |
probably benign |
|
|
R4784:Xpo5
|
UTSW |
17 |
46,533,643 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4808:Xpo5
|
UTSW |
17 |
46,546,896 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4981:Xpo5
|
UTSW |
17 |
46,531,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5159:Xpo5
|
UTSW |
17 |
46,528,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Xpo5
|
UTSW |
17 |
46,545,406 (GRCm39) |
missense |
probably benign |
|
|
R5294:Xpo5
|
UTSW |
17 |
46,547,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5550:Xpo5
|
UTSW |
17 |
46,545,418 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5750:Xpo5
|
UTSW |
17 |
46,529,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5774:Xpo5
|
UTSW |
17 |
46,552,772 (GRCm39) |
nonsense |
probably null |
|
|
R5921:Xpo5
|
UTSW |
17 |
46,532,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6165:Xpo5
|
UTSW |
17 |
46,546,883 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6576:Xpo5
|
UTSW |
17 |
46,551,734 (GRCm39) |
splice site |
probably null |
|
|
R7244:Xpo5
|
UTSW |
17 |
46,525,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Xpo5
|
UTSW |
17 |
46,532,295 (GRCm39) |
missense |
probably benign |
|
|
R7737:Xpo5
|
UTSW |
17 |
46,547,016 (GRCm39) |
splice site |
probably null |
|
|
R8752:Xpo5
|
UTSW |
17 |
46,547,838 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8882:Xpo5
|
UTSW |
17 |
46,538,666 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9370:Xpo5
|
UTSW |
17 |
46,546,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Xpo5
|
UTSW |
17 |
46,545,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Xpo5
|
UTSW |
17 |
46,541,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xpo5
|
UTSW |
17 |
46,531,688 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Xpo5
|
UTSW |
17 |
46,536,050 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAGCCTCTGTCTATTGGC -3'
(R):5'- ACAGGACATCTGCTGTACCC -3'
Sequencing Primer
(F):5'- TCTATTGGCCTAGGAAACGC -3'
(R):5'- GGAATGATCACAAGTCCATGCCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation