Mutagenetix > Incidental Mutation

Incidental Mutation 'R4979:Rae1'

384653

Institutional Source

Beutler Lab

Gene Symbol

Rae1

Ensembl Gene

ENSMUSG00000027509

Gene Name

ribonucleic acid export 1

Synonyms

MNRP, D2Ertd342e, MNRP41, 41

MMRRC Submission

042574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4979 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172841910-172857532 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 172854401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029013] [ENSMUST00000132212]

AlphaFold

Q8C570

Predicted Effect

probably benign
Transcript: ENSMUST00000029013

SMART Domains

Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509

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

SMART Domains

Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138237

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (79/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,643 (GRCm39)	E381K	probably damaging	Het
Abca1	T	C	4: 53,085,092 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,840,617 (GRCm39)	Q870*	probably null	Het
Ambp	C	T	4: 63,070,888 (GRCm39)	V64M	probably benign	Het
Ank1	T	C	8: 23,622,212 (GRCm39)	V1542A	probably damaging	Het
Anln	T	C	9: 22,287,797 (GRCm39)	Y168C	probably benign	Het
Apoa4	T	A	9: 46,152,803 (GRCm39)	N29K	probably benign	Het
Arfgef1	T	C	1: 10,283,334 (GRCm39)	T192A	probably damaging	Het
Atad2b	G	T	12: 5,084,513 (GRCm39)	D1420Y	probably damaging	Het
Baiap3	A	G	17: 25,465,336 (GRCm39)	W648R	possibly damaging	Het
Bank1	A	G	3: 135,960,662 (GRCm39)	L198P	probably damaging	Het
Bicd2	A	G	13: 49,532,940 (GRCm39)	K509E	possibly damaging	Het
Cacna1e	T	C	1: 154,289,739 (GRCm39)	D1821G	probably damaging	Het
Ccdc80	G	A	16: 44,936,650 (GRCm39)	V692M	possibly damaging	Het
Ccdc88a	C	T	11: 29,432,133 (GRCm39)	Q308*	probably null	Het
Ccl8	T	C	11: 82,006,973 (GRCm39)	V62A	probably damaging	Het
Clspn	C	A	4: 126,472,179 (GRCm39)	P951Q	probably damaging	Het
Cngb1	T	A	8: 95,985,785 (GRCm39)	I858F	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	C	T	11: 68,924,328 (GRCm39)	A960V	probably damaging	Het
Ctnnd2	A	G	15: 31,009,221 (GRCm39)	E1106G	probably damaging	Het
Dido1	C	T	2: 180,302,606 (GRCm39)	R1766H	probably damaging	Het
Dipk1a	A	T	5: 108,057,400 (GRCm39)	L386*	probably null	Het
Dnajc13	G	T	9: 104,063,922 (GRCm39)	N1341K	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
E2f8	G	A	7: 48,524,918 (GRCm39)		probably benign	Het
Entpd8	A	G	2: 24,972,967 (GRCm39)	D91G	possibly damaging	Het
Fars2	A	G	13: 36,388,564 (GRCm39)	R18G	possibly damaging	Het
Fcgbp	A	G	7: 27,816,995 (GRCm39)	S2486G	probably benign	Het
Fibin	C	T	2: 110,192,963 (GRCm39)	D60N	possibly damaging	Het
Fpgs	A	G	2: 32,577,379 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,765,247 (GRCm39)	D303G	probably damaging	Het
Gli3	C	A	13: 15,899,049 (GRCm39)	T812K	possibly damaging	Het
Gpbar1	G	C	1: 74,318,404 (GRCm39)	A216P	probably benign	Het
Grin2d	A	G	7: 45,507,357 (GRCm39)	I448T	probably benign	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Iqce	G	T	5: 140,677,376 (GRCm39)	D148E	probably damaging	Het
Iqcg	T	A	16: 32,839,884 (GRCm39)	E354V	probably damaging	Het
Iws1	T	C	18: 32,226,320 (GRCm39)		probably benign	Het
Ly75	C	T	2: 60,206,238 (GRCm39)	G144S	probably damaging	Het
Marco	C	A	1: 120,421,954 (GRCm39)	M83I	probably benign	Het
Mettl6	A	T	14: 31,201,752 (GRCm39)	L185H	probably damaging	Het
Mppe1	C	T	18: 67,362,773 (GRCm39)	G154D	probably damaging	Het
Mrpl42	T	C	10: 95,326,237 (GRCm39)	E85G	probably benign	Het
Neb	A	G	2: 52,079,921 (GRCm39)	V5518A	probably damaging	Het
Or12d13	A	T	17: 37,647,759 (GRCm39)	F121L	probably benign	Het
Or52p1	T	A	7: 104,267,812 (GRCm39)	F317I	probably null	Het
Or5b105	A	T	19: 13,080,053 (GRCm39)	I199N	probably damaging	Het
Or7a42	T	A	10: 78,791,766 (GRCm39)	C242*	probably null	Het
Or7d10	G	T	9: 19,831,655 (GRCm39)	S50I	probably benign	Het
Perm1	A	G	4: 156,302,034 (GRCm39)	T193A	probably benign	Het
Prkd2	T	A	7: 16,582,652 (GRCm39)	C172S	probably damaging	Het
Prr23a3	T	A	9: 98,747,431 (GRCm39)	D128E	possibly damaging	Het
Prss28	A	G	17: 25,528,711 (GRCm39)	Y51C	probably damaging	Het
Psmb1	A	T	17: 15,696,451 (GRCm39)	M85K	probably benign	Het
Rasal1	A	G	5: 120,816,741 (GRCm39)	D759G	probably benign	Het
Rcvrn	G	A	11: 67,586,246 (GRCm39)	G2R	probably damaging	Het
Robo3	C	T	9: 37,334,640 (GRCm39)	A597T	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Homo
Sdcbp	T	A	4: 6,378,980 (GRCm39)	Y22*	probably null	Het
Sin3a	T	C	9: 57,025,360 (GRCm39)	F1069L	probably damaging	Het
Slitrk3	C	T	3: 72,957,129 (GRCm39)	V548I	possibly damaging	Het
Tbc1d22a	A	G	15: 86,275,287 (GRCm39)	H403R	probably damaging	Het
Tbr1	G	T	2: 61,635,593 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,555,985 (GRCm39)	D65E	probably damaging	Het
Tpcn2	A	G	7: 144,813,833 (GRCm39)	S488P	probably benign	Het
Trav9-2	T	C	14: 53,828,695 (GRCm39)	S22P	probably damaging	Het
Trim34a	T	A	7: 103,897,069 (GRCm39)	N44K	probably benign	Het
Unc79	C	G	12: 103,078,691 (GRCm39)	P1619A	probably benign	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vhl	A	T	6: 113,601,159 (GRCm39)	M20L	unknown	Het
Vmn1r215	G	A	13: 23,260,064 (GRCm39)	A35T	probably benign	Het
Vmn1r222	G	A	13: 23,416,602 (GRCm39)	L204F	possibly damaging	Het
Zfp871	A	T	17: 32,994,829 (GRCm39)	H115Q	probably damaging	Het
Zpr1	T	A	9: 46,189,640 (GRCm39)	F340L	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
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
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'- GCTAAAAGAAATGCACACTTTTCCC -3'
(R):5'- GAAAGTACTCACCTTGGACCAG -3'

Sequencing Primer
(F):5'- GAAATGCACACTTTTCCCTGAGG -3'
(R):5'- GTACTCACCTTGGACCAGTCGTAG -3'

Posted On

2016-05-10