Incidental Mutation 'R6723:Rae1'
ID 529675
Institutional Source Beutler Lab
Gene Symbol Rae1
Ensembl Gene ENSMUSG00000027509
Gene Name ribonucleic acid export 1
Synonyms MNRP, D2Ertd342e, MNRP41, 41
MMRRC Submission 044841-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 172841910-172857532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172854041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 273 (I273T)
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: I273T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: I273T

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 probably benign
Transcript: ENSMUST00000132212
SMART Domains Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138237
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,228 (GRCm39) S740P probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Bcl11a C A 11: 24,113,646 (GRCm39) P330T probably damaging Het
Cyp2d12 A T 15: 82,441,085 (GRCm39) I124F probably benign Het
Dhdds T C 4: 133,721,576 (GRCm39) T74A probably damaging Het
Dio3 G A 12: 110,245,991 (GRCm39) C109Y possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Efcab3 A T 11: 105,007,906 (GRCm39) T329S possibly damaging Het
Esp1 A T 17: 41,039,747 (GRCm39) I11L probably benign Het
Fam13b A T 18: 34,631,079 (GRCm39) H33Q possibly damaging Het
Fam13c G A 10: 70,390,355 (GRCm39) D539N probably damaging Het
Fgd5 A G 6: 91,965,011 (GRCm39) T257A probably benign Het
Gm5134 A G 10: 75,844,453 (GRCm39) D603G probably benign Het
Gtpbp2 T C 17: 46,479,202 (GRCm39) V588A probably benign Het
Ift140 A G 17: 25,252,090 (GRCm39) I312M probably benign Het
Inpp5j T C 11: 3,450,640 (GRCm39) N571S probably damaging Het
Iqgap1 T G 7: 80,373,570 (GRCm39) D1473A probably benign Het
Ivl T G 3: 92,478,694 (GRCm39) K457T unknown Het
Kdm3b T C 18: 34,926,058 (GRCm39) I66T probably damaging Het
Kif21a A T 15: 90,824,649 (GRCm39) M1430K probably damaging Het
Klhl25 T A 7: 75,515,739 (GRCm39) L215Q possibly damaging Het
Lim2 T A 7: 43,085,099 (GRCm39) M163K probably benign Het
Lrig1 T C 6: 94,603,386 (GRCm39) D254G probably damaging Het
Mff A G 1: 82,729,387 (GRCm39) I122V possibly damaging Het
Mrpl15 A C 1: 4,852,789 (GRCm39) probably null Het
Mylk A G 16: 34,750,258 (GRCm39) Y1199C possibly damaging Het
Nlrp3 G A 11: 59,456,018 (GRCm39) C938Y probably damaging Het
Notch1 T C 2: 26,368,118 (GRCm39) N623D probably damaging Het
Obscn T G 11: 58,945,824 (GRCm39) E4129A probably damaging Het
Or10a49 A T 7: 108,467,795 (GRCm39) C189S probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4d11 A G 19: 12,013,639 (GRCm39) S156P probably damaging Het
Or5k1 T C 16: 58,617,795 (GRCm39) K138R probably benign Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Parm1 C T 5: 91,770,856 (GRCm39) P291S probably damaging Het
Pcsk1 T A 13: 75,241,188 (GRCm39) probably null Het
Pgap6 C A 17: 26,339,610 (GRCm39) T616N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Piezo1 T G 8: 123,234,366 (GRCm39) Q93H probably benign Het
Pkd2l2 A T 18: 34,571,210 (GRCm39) Y575F probably damaging Het
Plekhn1 A C 4: 156,309,026 (GRCm39) F258C probably damaging Het
Pole C T 5: 110,471,482 (GRCm39) H1409Y probably benign Het
Rag1 A G 2: 101,473,990 (GRCm39) V384A probably damaging Het
Rnaseh1 T C 12: 28,699,761 (GRCm39) L25P probably damaging Het
Serpinb12 A G 1: 106,876,888 (GRCm39) H68R probably benign Het
Sh3tc2 A T 18: 62,111,025 (GRCm39) I294F probably damaging Het
Sirpb1b A C 3: 15,613,858 (GRCm39) L75V possibly damaging Het
Slc12a6 A T 2: 112,168,287 (GRCm39) T277S probably damaging Het
Slc7a12 A T 3: 14,564,257 (GRCm39) E43D probably benign Het
Spata31d1c T A 13: 65,183,758 (GRCm39) D433E probably benign Het
Spata31h1 T C 10: 82,125,657 (GRCm39) Y2451C possibly damaging Het
Tbl2 A T 5: 135,188,130 (GRCm39) Y308F probably damaging Het
Tfec T C 6: 16,835,301 (GRCm39) Y159C probably damaging Het
Top1mt G T 15: 75,539,282 (GRCm39) T371K probably benign Het
Trim24 T C 6: 37,928,403 (GRCm39) V541A probably benign Het
Ttc16 T C 2: 32,658,049 (GRCm39) Y456C possibly damaging Het
Ttn G A 2: 76,600,441 (GRCm39) R17204* probably null Het
Ugt1a6b T C 1: 88,035,439 (GRCm39) V259A probably benign Het
Unc5a T C 13: 55,143,702 (GRCm39) W129R probably benign Het
Vmn1r63 T A 7: 5,805,948 (GRCm39) H228L probably damaging Het
Whamm G T 7: 81,245,868 (GRCm39) V775F probably damaging Het
Zfc3h1 T A 10: 115,256,638 (GRCm39) I1536N probably benign Het
Zfp1 T C 8: 112,396,971 (GRCm39) S317P probably damaging Het
Zfp58 T C 13: 67,642,192 (GRCm39) T52A 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
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
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'- ATTGAGGGGAGAGTTGCCATTC -3'
(R):5'- CAACCTCAGGGAAAAGTGTGC -3'

Sequencing Primer
(F):5'- GGGAGAGTTGCCATTCACTACATC -3'
(R):5'- CCTCAGGGAAAAGTGTGCATTTC -3'
Posted On 2018-08-01