Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Rae1'

32531

Institutional Source

Beutler Lab

Gene Symbol

Rae1

Ensembl Gene

ENSMUSG00000027509

Gene Name

ribonucleic acid export 1

Synonyms

MNRP, D2Ertd342e, MNRP41, 41

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172841910-172857532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172844466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 4 (F4I)

Ref Sequence

ENSEMBL: ENSMUSP00000121815 (fasta)

Gene Model

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

AlphaFold

Q8C570

Predicted Effect

unknown
Transcript: ENSMUST00000029013
AA Change: F4I

SMART Domains

Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: F4I

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

unknown
Transcript: ENSMUST00000132212
AA Change: F4I

SMART Domains

Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509
AA Change: F4I

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

0.1091

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Mthfd2l	A	T	5: 91,109,242 (GRCm39)	H224L	probably damaging	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Sharpin	G	T	15: 76,232,543 (GRCm39)	P156T	possibly damaging	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGCATCCTCCCTAGACAGTAAAG -3'
(R):5'- CGATTCTCTTCACCCAACATGAGGC -3'

Sequencing Primer
(F):5'- agaaatctgcctgcctctg -3'
(R):5'- CCAACATGAGGCTCCCTG -3'

Posted On

2013-05-09