Incidental Mutation 'IGL00813:Rae1'
| ID |
13734 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rae1
|
| Ensembl Gene |
ENSMUSG00000027509 |
| Gene Name |
ribonucleic acid export 1 |
| Synonyms |
MNRP, D2Ertd342e, MNRP41, 41 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172841910-172857532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172848726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 114
(D114G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029013]
[ENSMUST00000132212]
|
| AlphaFold |
Q8C570 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029013
AA Change: D114G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: D114G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
WD40
|
28 |
70 |
9.59e-1 |
SMART |
|
WD40
|
76 |
114 |
9.82e-8 |
SMART |
|
WD40
|
117 |
157 |
1.12e-2 |
SMART |
|
Blast:WD40
|
160 |
195 |
2e-9 |
BLAST |
|
Blast:WD40
|
202 |
244 |
8e-10 |
BLAST |
|
WD40
|
250 |
301 |
1.14e-3 |
SMART |
|
Blast:WD40
|
304 |
346 |
7e-22 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132212
AA Change: D114G
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509
AA Change: D114G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
WD40
|
28 |
70 |
9.59e-1 |
SMART |
|
WD40
|
76 |
114 |
9.82e-8 |
SMART |
|
WD40
|
117 |
157 |
1.12e-2 |
SMART |
|
Blast:WD40
|
160 |
195 |
6e-9 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal. Heterozygous mutant mice exhibit a mitotic checkpoint defect and chromosome missegregation as well as an increased incidence of chemically-induced lung tumors; however, no spontaneous tumor formation or signs of early aging are observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
A |
1: 71,392,921 (GRCm39) |
|
probably null |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
T |
C |
13: 38,803,158 (GRCm39) |
N76S |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,711,157 (GRCm39) |
*505R |
probably null |
Het |
| Epor |
T |
C |
9: 21,871,887 (GRCm39) |
T253A |
possibly damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,452,961 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,813,810 (GRCm39) |
V209E |
probably damaging |
Het |
| Ino80d |
G |
A |
1: 63,132,462 (GRCm39) |
P67L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,505,324 (GRCm39) |
F2215V |
probably benign |
Het |
| Lysmd3 |
C |
A |
13: 81,813,361 (GRCm39) |
N76K |
probably damaging |
Het |
| Map10 |
G |
A |
8: 126,398,671 (GRCm39) |
R688Q |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,135,916 (GRCm39) |
M554K |
probably damaging |
Het |
| Mgat5 |
G |
A |
1: 127,312,543 (GRCm39) |
M227I |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,039,725 (GRCm39) |
I389V |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,598,885 (GRCm39) |
K315R |
probably damaging |
Het |
| Rbms1 |
T |
C |
2: 60,628,049 (GRCm39) |
K64E |
probably damaging |
Het |
| Shox2 |
C |
A |
3: 66,882,777 (GRCm39) |
Q105H |
probably damaging |
Het |
| Simc1 |
C |
A |
13: 54,694,799 (GRCm39) |
F293L |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,639 (GRCm39) |
I289V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stk32a |
T |
A |
18: 43,443,585 (GRCm39) |
V254E |
probably benign |
Het |
| Them5 |
A |
G |
3: 94,250,595 (GRCm39) |
K53E |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,058,587 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,868,675 (GRCm39) |
L248Q |
possibly damaging |
Het |
|
| Other mutations in Rae1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Rae1
|
APN |
2 |
172,845,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Rae1
|
UTSW |
2 |
172,844,466 (GRCm39) |
missense |
unknown |
|
|
R0012:Rae1
|
UTSW |
2 |
172,844,466 (GRCm39) |
missense |
unknown |
|
|
R0684:Rae1
|
UTSW |
2 |
172,846,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Rae1
|
UTSW |
2 |
172,848,754 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3813:Rae1
|
UTSW |
2 |
172,848,666 (GRCm39) |
splice site |
probably benign |
|
|
R4537:Rae1
|
UTSW |
2 |
172,857,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4540:Rae1
|
UTSW |
2 |
172,857,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4710:Rae1
|
UTSW |
2 |
172,857,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4731:Rae1
|
UTSW |
2 |
172,857,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4979:Rae1
|
UTSW |
2 |
172,854,401 (GRCm39) |
unclassified |
probably benign |
|
|
R6723:Rae1
|
UTSW |
2 |
172,854,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Rae1
|
UTSW |
2 |
172,850,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7329:Rae1
|
UTSW |
2 |
172,851,238 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9110:Rae1
|
UTSW |
2 |
172,854,016 (GRCm39) |
missense |
probably benign |
|
|
R9483:Rae1
|
UTSW |
2 |
172,849,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9656:Rae1
|
UTSW |
2 |
172,854,590 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation