Incidental Mutation 'R1725:Rae1'
ID 198049
Institutional Source Beutler Lab
Gene Symbol Rae1
Ensembl Gene ENSMUSG00000027509
Gene Name ribonucleic acid export 1
Synonyms MNRP, D2Ertd342e, MNRP41, 41
MMRRC Submission 039757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1725 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 172841910-172857532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172848754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 123 (I123M)
Ref Sequence ENSEMBL: ENSMUSP00000121815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029013] [ENSMUST00000132212]
AlphaFold Q8C570
Predicted Effect possibly damaging
Transcript: ENSMUST00000029013
AA Change: I123M

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: I123M

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000132212
AA Change: I123M

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509
AA Change: I123M

DomainStartEndE-ValueType
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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,163 (GRCm39) F109L probably benign Het
Aacs T C 5: 125,559,999 (GRCm39) probably null Het
Abcc6 C A 7: 45,641,781 (GRCm39) D866Y possibly damaging Het
Acox3 T C 5: 35,749,516 (GRCm39) Y214H probably benign Het
Acss2 A G 2: 155,398,764 (GRCm39) T404A possibly damaging Het
Adgrb3 T A 1: 25,865,381 (GRCm39) E154V probably damaging Het
Akap12 G A 10: 4,303,942 (GRCm39) V251M probably damaging Het
Ambp A T 4: 63,062,513 (GRCm39) M242K possibly damaging Het
Angptl7 T G 4: 148,584,469 (GRCm39) Y93S probably damaging Het
Apof A G 10: 128,105,680 (GRCm39) probably benign Het
Arv1 T C 8: 125,455,191 (GRCm39) F135L probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cacna1s C T 1: 136,026,361 (GRCm39) T1116I probably damaging Het
Ccdc91 A G 6: 147,493,541 (GRCm39) E311G unknown Het
Cenpf T C 1: 189,412,676 (GRCm39) T196A probably damaging Het
Chd8 A T 14: 52,470,030 (GRCm39) S527T probably benign Het
Csmd3 A C 15: 47,460,203 (GRCm39) N3529K probably damaging Het
Csnk2a1 T C 2: 152,099,892 (GRCm39) V116A probably damaging Het
Dhx36 T G 3: 62,414,360 (GRCm39) M1L probably benign Het
Diaph3 A G 14: 87,203,759 (GRCm39) probably null Het
Ephb2 G A 4: 136,387,089 (GRCm39) Q714* probably null Het
Eprs1 T A 1: 185,139,189 (GRCm39) L858Q probably damaging Het
Espl1 G T 15: 102,221,656 (GRCm39) V982L probably benign Het
Eya2 A G 2: 165,566,605 (GRCm39) T219A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl18 C T 5: 142,872,458 (GRCm39) R259H probably damaging Het
Gcc2 G A 10: 58,139,937 (GRCm39) R1629H possibly damaging Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Krt6a A T 15: 101,600,992 (GRCm39) M268K probably damaging Het
Loxhd1 T A 18: 77,380,937 (GRCm39) S85T probably benign Het
Loxl3 G A 6: 83,012,574 (GRCm39) V38I probably benign Het
Mill2 A G 7: 18,573,993 (GRCm39) D26G probably benign Het
Muc15 T C 2: 110,561,591 (GRCm39) L9S probably damaging Het
Nat8f4 G A 6: 85,878,080 (GRCm39) R148* probably null Het
Nav3 A T 10: 109,659,451 (GRCm39) V722E probably damaging Het
Nfkb1 C A 3: 135,373,519 (GRCm39) G10W probably damaging Het
Or10j5 C T 1: 172,784,908 (GRCm39) P182L possibly damaging Het
Or2ag1 A T 7: 106,313,265 (GRCm39) F208I probably benign Het
Or2t1 T G 14: 14,328,977 (GRCm38) Y289D probably damaging Het
Or5b120 T C 19: 13,479,883 (GRCm39) Y59H probably damaging Het
Pcdhb22 T A 18: 37,653,241 (GRCm39) C313S probably benign Het
Plin4 A G 17: 56,413,473 (GRCm39) L384P probably damaging Het
Pm20d1 T C 1: 131,743,796 (GRCm39) I487T probably damaging Het
Prex1 A T 2: 166,443,656 (GRCm39) D334E probably damaging Het
Psg28 A T 7: 18,161,936 (GRCm39) I189N possibly damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Sh3glb2 C A 2: 30,240,679 (GRCm39) E129* probably null Het
Simc1 T C 13: 54,674,219 (GRCm39) S856P probably damaging Het
Slc19a1 T A 10: 76,877,672 (GRCm39) M69K probably benign Het
Slc30a8 A T 15: 52,197,000 (GRCm39) I304F possibly damaging Het
Snx1 A G 9: 66,005,611 (GRCm39) probably null Het
Spmip5 T G 19: 58,781,194 (GRCm39) K10T probably benign Het
Stx18 G A 5: 38,292,599 (GRCm39) V234M probably damaging Het
Sulf2 T C 2: 165,923,281 (GRCm39) T615A probably damaging Het
Sult3a2 T A 10: 33,655,705 (GRCm39) K91N probably benign Het
Tet1 A G 10: 62,650,256 (GRCm39) S22P probably damaging Het
Tmc3 T C 7: 83,253,940 (GRCm39) V362A probably damaging Het
Trim16 A C 11: 62,711,331 (GRCm39) M1L possibly damaging Het
Trp53bp1 C T 2: 121,082,481 (GRCm39) V10I possibly damaging Het
Ttc12 T G 9: 49,369,415 (GRCm39) D235A probably benign Het
Ttn T C 2: 76,692,727 (GRCm39) R452G possibly damaging Het
Ugt2b38 A T 5: 87,559,730 (GRCm39) H387Q probably damaging Het
Usp48 T A 4: 137,360,733 (GRCm39) L20* probably null Het
Utrn T C 10: 12,539,263 (GRCm39) D1918G probably damaging Het
Vmn1r158 A G 7: 22,490,072 (GRCm39) S46P probably benign Het
Vmn2r97 T A 17: 19,149,397 (GRCm39) W262R probably benign Het
Vps13d A T 4: 144,869,830 (GRCm39) S1917T possibly damaging Het
Vsx1 T C 2: 150,528,120 (GRCm39) N158D probably benign Het
Vwf G A 6: 125,623,245 (GRCm39) V1781I probably benign Het
Wrap73 T C 4: 154,233,209 (GRCm39) Y128H possibly damaging Het
Zfp472 A G 17: 33,196,311 (GRCm39) K129E possibly damaging Het
Zscan18 A T 7: 12,504,784 (GRCm39) L611Q probably damaging Het
Other mutations in Rae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Rae1 APN 2 172,848,726 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TGCAGAGAAGATGCTTTGCCCAAC -3'
(R):5'- ACACTCGACCAACACTTGCTGAATG -3'

Sequencing Primer
(F):5'- GAAGATGCTTTGCCCAACTTCTC -3'
(R):5'- cgaccaacacttgctgaatgaTAAG -3'
Posted On 2014-05-23