Mutagenetix > Incidental Mutation

Incidental Mutation 'R7329:Rae1'

569090

Institutional Source

Beutler Lab

Gene Symbol

Rae1

Ensembl Gene

ENSMUSG00000027509

Gene Name

ribonucleic acid export 1

Synonyms

MNRP, D2Ertd342e, MNRP41, 41

MMRRC Submission

045422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172841910-172857532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172851238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 204 (F204I)

Ref Sequence

ENSEMBL: ENSMUSP00000029013 (fasta)

Gene Model

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

AlphaFold

Q8C570

Predicted Effect

probably benign
Transcript: ENSMUST00000029013
AA Change: F204I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: F204I

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

silent
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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actb	T	C	5: 142,890,146 (GRCm39)	N252S	probably benign	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ahnak	A	G	19: 8,979,156 (GRCm39)	T147A	probably damaging	Het
Ankfy1	T	C	11: 72,603,034 (GRCm39)	V21A	probably damaging	Het
Arrdc4	T	A	7: 68,390,775 (GRCm39)	N322Y	probably damaging	Het
Bfsp2	C	A	9: 103,327,121 (GRCm39)	E205D	probably benign	Het
C2cd4b	T	A	9: 67,667,419 (GRCm39)	S138R	possibly damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Ckap2l	T	A	2: 129,127,284 (GRCm39)	Q298L	possibly damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cntnap2	G	A	6: 47,248,205 (GRCm39)	V1204M	possibly damaging	Het
Col4a1	C	T	8: 11,276,494 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,022 (GRCm39)	T73A	probably benign	Het
Cubn	A	G	2: 13,473,582 (GRCm39)	F454L	probably damaging	Het
Cuedc1	A	T	11: 88,060,692 (GRCm39)	S12C	unknown	Het
Cyb561a3	G	T	19: 10,565,268 (GRCm39)	G211C	probably damaging	Het
D5Ertd579e	A	T	5: 36,773,739 (GRCm39)	S219T	probably benign	Het
Dennd4c	T	A	4: 86,759,318 (GRCm39)	Y1783N	probably damaging	Het
Dennd4c	C	T	4: 86,698,111 (GRCm39)	P200S	possibly damaging	Het
Dnah6	G	A	6: 73,121,705 (GRCm39)	Q1426*	probably null	Het
Dync2h1	T	G	9: 7,011,247 (GRCm39)	T3649P	probably benign	Het
E2f8	T	C	7: 48,521,858 (GRCm39)	S415G	probably damaging	Het
Fbxo22	A	G	9: 55,122,261 (GRCm39)	I147V	probably benign	Het
Gclc	A	G	9: 77,683,473 (GRCm39)	Y110C	probably damaging	Het
Gstm5	A	G	3: 107,803,647 (GRCm39)	T27A	possibly damaging	Het
Heatr4	A	G	12: 84,024,856 (GRCm39)	S322P	probably benign	Het
Htt	T	A	5: 34,987,099 (GRCm39)	I1106N	probably benign	Het
Hunk	T	C	16: 90,183,570 (GRCm39)	V76A	probably benign	Het
Igkv12-98	C	T	6: 68,548,087 (GRCm39)	T72I	possibly damaging	Het
Igkv9-123	A	T	6: 67,931,629 (GRCm39)	W16R	possibly damaging	Het
Ipo7	T	C	7: 109,648,224 (GRCm39)	L674S	possibly damaging	Het
Kcnh6	T	C	11: 105,908,203 (GRCm39)	F273S	probably benign	Het
Lamb3	C	A	1: 193,002,848 (GRCm39)	Q98K	possibly damaging	Het
Lingo4	A	T	3: 94,310,162 (GRCm39)	T367S	probably benign	Het
Lypd6b	A	T	2: 49,832,512 (GRCm39)	I26F	probably benign	Het
Maneal	T	C	4: 124,750,512 (GRCm39)	T415A	probably benign	Het
Mapk1ip1l	A	G	14: 47,547,920 (GRCm39)	T23A	unknown	Het
Mrps17	T	A	5: 129,793,705 (GRCm39)		probably benign	Het
Mup13	T	G	4: 61,183,688 (GRCm39)	D45A	probably damaging	Het
Mycbpap	T	A	11: 94,400,073 (GRCm39)	D408V	probably damaging	Het
Myh10	A	G	11: 68,701,017 (GRCm39)	H1742R	probably benign	Het
Mylk4	A	G	13: 32,900,766 (GRCm39)	Y255H	probably damaging	Het
Nbeal1	A	G	1: 60,256,355 (GRCm39)	Q200R	probably benign	Het
Nkain2	TTTACTCGTT	TTT	10: 32,765,892 (GRCm39)		probably null	Het
Olfm4	T	C	14: 80,249,369 (GRCm39)	V162A	possibly damaging	Het
Or1j15	A	G	2: 36,458,708 (GRCm39)	T33A	probably benign	Het
Or51a8	T	C	7: 102,550,039 (GRCm39)	L155P	probably damaging	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8c11	C	A	9: 38,289,456 (GRCm39)	T87K	probably benign	Het
Ovol3	T	A	7: 29,934,677 (GRCm39)	R43S	probably benign	Het
Pcbp1	A	G	6: 86,502,098 (GRCm39)	V267A	probably benign	Het
Phf20	T	A	2: 156,146,552 (GRCm39)	V903E	probably damaging	Het
Pi4k2b	T	G	5: 52,914,211 (GRCm39)	S316A	probably benign	Het
Pira1	G	A	7: 3,742,875 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,617,743 (GRCm39)	H947Q	probably damaging	Het
Ppip5k2	A	C	1: 97,678,478 (GRCm39)		probably null	Het
Prkca	T	A	11: 107,905,103 (GRCm39)	T212S	possibly damaging	Het
Psg16	A	T	7: 16,824,611 (GRCm39)	I41F	possibly damaging	Het
Rasef	T	A	4: 73,662,374 (GRCm39)	N192I	probably damaging	Het
Rfc1	T	A	5: 65,420,478 (GRCm39)	R1122S	unknown	Het
Rfx2	A	T	17: 57,110,681 (GRCm39)	S102T	probably benign	Het
Sez6l	A	G	5: 112,588,773 (GRCm39)	Y647H	probably damaging	Het
Siglecf	A	G	7: 43,001,395 (GRCm39)	Y121C	probably damaging	Het
Slc27a5	T	C	7: 12,725,089 (GRCm39)	T453A	possibly damaging	Het
Slc44a2	G	A	9: 21,254,048 (GRCm39)	R171Q	probably damaging	Het
Slc4a9	A	C	18: 36,673,874 (GRCm39)	E889A	possibly damaging	Het
Snx31	C	A	15: 36,555,621 (GRCm39)	R13L	probably benign	Het
Spag6l	A	T	16: 16,584,883 (GRCm39)	Y422N	probably benign	Het
Spmip5	T	C	19: 58,777,654 (GRCm39)	E52G	probably damaging	Het
Sulf2	T	C	2: 165,959,008 (GRCm39)	T67A	probably damaging	Het
Syne2	G	A	12: 76,013,758 (GRCm39)	R2983Q	probably benign	Het
Tmtc3	A	G	10: 100,283,281 (GRCm39)	I758T	probably benign	Het
Top2a	T	A	11: 98,895,072 (GRCm39)	I843L	possibly damaging	Het
Tph1	T	C	7: 46,306,285 (GRCm39)		probably null	Het
Trdmt1	A	G	2: 13,520,933 (GRCm39)	L323P	probably damaging	Het
Ush2a	A	T	1: 188,285,395 (GRCm39)	E1977V	probably damaging	Het
Utp4	A	G	8: 107,640,095 (GRCm39)	E468G	probably benign	Het
Uts2r	A	G	11: 121,051,558 (GRCm39)	T141A	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,952 (GRCm39)	Y47C	probably damaging	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
R7193:Rae1	UTSW	2	172,850,110 (GRCm39)	critical splice donor site	probably null
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'- GCTTCTCTAGGCTTTCACAAAC -3'
(R):5'- CCGGCTCAGTCATGCTTATGTC -3'

Sequencing Primer
(F):5'- GGCTTTCACAAACACTTTGATATTGC -3'
(R):5'- CTCAGTCATGCTTATGTCAAACTATG -3'

Posted On

2019-09-13