Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Rae1'

218622

Institutional Source

Beutler Lab

Gene Symbol

Rae1

Ensembl Gene

ENSMUSG00000027509

Gene Name

ribonucleic acid export 1

Synonyms

MNRP, D2Ertd342e, MNRP41, 41

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0684 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

172841910-172857532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 172846957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 67 (R67H)

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: R67H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: R67H

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: ENSMUST00000124793

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132212
AA Change: R67H

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509
AA Change: R67H

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

Meta Mutation Damage Score

0.4484

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,260,593 (GRCm39)	E419G	probably benign	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,646,025 (GRCm39)	T65S	probably benign	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Or52n2b	T	A	7: 104,565,841 (GRCm39)	T221S	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Slc38a2	A	T	15: 96,593,168 (GRCm39)	L137*	probably null	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp94	A	T	7: 24,002,495 (GRCm39)	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	probably benign	Het

Other mutations in Rae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGCGATCCCGTTTGGGTTTCAG -3'
(R):5'- GCTGCTACCACAAGCAACTGCTTAC -3'

Sequencing Primer
(F):5'- AGCTGCTTGCTTGTACTTAGTTTG -3'
(R):5'- ctctgagtgagaatgcccc -3'

Posted On

2014-08-18