Mutagenetix > Incidental Mutation

Incidental Mutation 'R7193:Rae1'

559707

Institutional Source

Beutler Lab

Gene Symbol

Rae1

Ensembl Gene

ENSMUSG00000027509

Gene Name

ribonucleic acid export 1

Synonyms

MNRP, D2Ertd342e, MNRP41, 41

MMRRC Submission

045334-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172841910-172857532 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 172850110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029013 (fasta)

Gene Model

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

AlphaFold

Q8C570

Predicted Effect

probably null
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

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,265,963 (GRCm39)		probably null	Het
Abca16	T	C	7: 120,026,409 (GRCm39)	S124P	probably damaging	Het
Acan	A	T	7: 78,736,090 (GRCm39)	S179C	probably damaging	Het
Atg2b	A	C	12: 105,630,967 (GRCm39)	H319Q	probably damaging	Het
Bptf	G	A	11: 106,945,635 (GRCm39)	Q2535*	probably null	Het
Brpf3	T	C	17: 29,055,665 (GRCm39)	*1205R	probably null	Het
Cabyr	C	A	18: 12,884,815 (GRCm39)	P434Q	probably damaging	Het
Cacna1g	C	A	11: 94,300,057 (GRCm39)	D2268Y	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cct4	A	G	11: 22,947,111 (GRCm39)	T201A	probably benign	Het
Cdyl2	A	C	8: 117,350,733 (GRCm39)	S133A	probably benign	Het
Cep76	A	G	18: 67,774,204 (GRCm39)	L14P	possibly damaging	Het
Cert1	T	A	13: 96,767,341 (GRCm39)		probably null	Het
Crybg3	A	T	16: 59,379,956 (GRCm39)	S433T	possibly damaging	Het
Cul9	T	C	17: 46,849,423 (GRCm39)	K574R	probably damaging	Het
Cyp2u1	T	C	3: 131,084,792 (GRCm39)	I527V	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
F5	A	G	1: 164,046,966 (GRCm39)	N2142S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Flnc	A	G	6: 29,450,870 (GRCm39)	Y1506C	probably damaging	Het
Foxred2	T	A	15: 77,836,230 (GRCm39)	S376C	probably damaging	Het
Gbe1	T	C	16: 70,292,258 (GRCm39)	L530P	probably damaging	Het
Hmcn1	T	C	1: 150,525,331 (GRCm39)	R3398G	probably null	Het
Igf1r	T	C	7: 67,836,905 (GRCm39)	L587P	probably damaging	Het
Ints15	A	G	5: 143,293,598 (GRCm39)	V293A	probably benign	Het
Kcna3	T	C	3: 106,943,853 (GRCm39)	Y39H	probably benign	Het
Krtap5-2	GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA	GCTACAGCCTCCCTTGCA	7: 141,728,980 (GRCm39)		probably benign	Het
Mbl1	T	C	14: 40,880,669 (GRCm39)	F186L	probably damaging	Het
Ncam2	A	T	16: 81,386,683 (GRCm39)	K687N	probably damaging	Het
Nedd4l	T	C	18: 65,130,441 (GRCm39)	V24A	probably damaging	Het
Nek1	A	G	8: 61,526,612 (GRCm39)	E661G	probably damaging	Het
Nudt14	G	T	12: 112,902,940 (GRCm39)	D28E	probably benign	Het
Or13n4	T	C	7: 106,423,798 (GRCm39)		probably benign	Het
Or1j15	T	A	2: 36,459,248 (GRCm39)	C213S	probably benign	Het
Or2n1	T	A	17: 38,485,987 (GRCm39)	I4N	probably benign	Het
Or4k47	A	T	2: 111,451,600 (GRCm39)	V273E	probably damaging	Het
Pdk4	A	T	6: 5,487,089 (GRCm39)	M319K	probably benign	Het
Pfkp	T	C	13: 6,643,252 (GRCm39)	N522S	probably benign	Het
Pias2	T	C	18: 77,207,817 (GRCm39)	V234A	possibly damaging	Het
Pik3c2b	C	A	1: 133,007,512 (GRCm39)	H625Q	probably benign	Het
Pnpla7	T	C	2: 24,941,627 (GRCm39)	S1117P	probably damaging	Het
Prdm2	A	T	4: 142,907,464 (GRCm39)	V36D	probably damaging	Het
Prep	C	T	10: 44,968,795 (GRCm39)	R98C	probably benign	Het
Rgs3	T	A	4: 62,533,573 (GRCm39)	V138E	probably damaging	Het
Rnf185	T	C	11: 3,375,329 (GRCm39)	T142A	possibly damaging	Het
Rsph6a	C	A	7: 18,799,572 (GRCm39)	P401Q	probably damaging	Het
Runx3	A	T	4: 134,848,456 (GRCm39)	T14S	probably benign	Het
Scaf11	A	G	15: 96,317,042 (GRCm39)	S841P	probably damaging	Het
Spta1	T	A	1: 174,012,178 (GRCm39)	L328Q	probably damaging	Het
Sqor	G	A	2: 122,645,929 (GRCm39)	V318M	probably damaging	Het
Stox2	T	C	8: 47,639,489 (GRCm39)	T902A	probably benign	Het
Susd3	T	C	13: 49,384,679 (GRCm39)	H248R	probably damaging	Het
Syne1	T	C	10: 5,183,406 (GRCm39)	Y4133C	probably damaging	Het
Tbc1d20	C	T	2: 152,153,337 (GRCm39)	T289M	probably benign	Het
Unc80	T	A	1: 66,588,943 (GRCm39)	F1036Y	possibly damaging	Het
Zbtb7c	T	C	18: 76,271,009 (GRCm39)	C366R	probably damaging	Het
Zeb1	A	T	18: 5,772,756 (GRCm39)	D1015V	probably damaging	Het
Zfp606	T	G	7: 12,227,966 (GRCm39)	S696A	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
R4979:Rae1	UTSW	2	172,854,401 (GRCm39)	unclassified	probably benign
R6723:Rae1	UTSW	2	172,854,041 (GRCm39)	missense	probably damaging	1.00
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'- GAAGGTATGCATGCACTTGAGG -3'
(R):5'- ACAAGTGGCTAGCACACATG -3'

Sequencing Primer
(F):5'- CACTTGAGGGGTTGTGCACTC -3'
(R):5'- ATAGCCCAGCAGTTTCATCTCCAG -3'

Posted On

2019-06-26