Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Nxf1'

384319

Institutional Source

Beutler Lab

Gene Symbol

Nxf1

Ensembl Gene

ENSMUSG00000010097

Gene Name

nuclear RNA export factor 1

Synonyms

Tip associated protein, TAP, Mex67, Mvb1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8734467-8748274 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 8739669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000183939] [ENSMUST00000184756] [ENSMUST00000184970]

AlphaFold

Q99JX7

Predicted Effect

probably null
Transcript: ENSMUST00000010241

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	67	81	N/A	INTRINSIC
Pfam:Tap-RNA_bind	115	198	7.6e-42	PFAM
low complexity region	258	274	N/A	INTRINSIC
LRRcap	333	351	1.44e0	SMART
Pfam:NTF2	385	535	1.3e-29	PFAM
TAP_C	555	618	1.85e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183780

Predicted Effect

probably benign
Transcript: ENSMUST00000183939

SMART Domains

Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	1	63	5.7e-28	PFAM
low complexity region	122	138	N/A	INTRINSIC
Pfam:LRR_1	155	178	2.1e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184387

Predicted Effect

probably benign
Transcript: ENSMUST00000184756

SMART Domains

Protein: ENSMUSP00000139050
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000184970

SMART Domains

Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	67	81	N/A	INTRINSIC
Pfam:Tap-RNA_bind	112	199	2.4e-45	PFAM
low complexity region	258	274	N/A	INTRINSIC
Pfam:LRR_1	291	314	3.2e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185056

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some alleles are able to suppress defects caused by retrovirus insertion mutations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Nxf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Nxf1	APN	19	8,740,106 (GRCm39)	missense	possibly damaging	0.95
IGL02318:Nxf1	APN	19	8,741,514 (GRCm39)	critical splice donor site	probably null
IGL03383:Nxf1	APN	19	8,741,061 (GRCm39)	missense	probably damaging	1.00
Chance	UTSW	19	8,746,546 (GRCm39)	missense	probably damaging	1.00
Necessity	UTSW	19	8,745,118 (GRCm39)	missense	probably damaging	1.00
Possibility	UTSW	19	8,745,108 (GRCm39)	missense	probably damaging	1.00
Probability	UTSW	19	8,741,681 (GRCm39)	missense	probably benign	0.01
R0125:Nxf1	UTSW	19	8,740,170 (GRCm39)	missense	probably benign	0.37
R0362:Nxf1	UTSW	19	8,741,515 (GRCm39)	critical splice donor site	probably null
R0374:Nxf1	UTSW	19	8,745,103 (GRCm39)	missense	possibly damaging	0.86
R0403:Nxf1	UTSW	19	8,742,392 (GRCm39)	missense	probably damaging	1.00
R0883:Nxf1	UTSW	19	8,741,955 (GRCm39)	missense	probably damaging	1.00
R1004:Nxf1	UTSW	19	8,741,681 (GRCm39)	missense	probably benign	0.01
R1068:Nxf1	UTSW	19	8,740,118 (GRCm39)	missense	probably damaging	0.97
R1503:Nxf1	UTSW	19	8,739,800 (GRCm39)	missense	probably benign
R1669:Nxf1	UTSW	19	8,749,495 (GRCm39)	missense	possibly damaging	0.93
R1679:Nxf1	UTSW	19	8,746,438 (GRCm39)	missense	probably benign
R4424:Nxf1	UTSW	19	8,744,128 (GRCm39)	utr 3 prime	probably benign
R4608:Nxf1	UTSW	19	8,740,127 (GRCm39)	missense	probably benign	0.03
R4783:Nxf1	UTSW	19	8,744,162 (GRCm39)	missense	probably benign	0.01
R5233:Nxf1	UTSW	19	8,741,293 (GRCm39)	missense	possibly damaging	0.67
R5370:Nxf1	UTSW	19	8,749,504 (GRCm39)	missense	probably damaging	1.00
R6024:Nxf1	UTSW	19	8,745,108 (GRCm39)	missense	probably damaging	1.00
R6058:Nxf1	UTSW	19	8,745,186 (GRCm39)	missense	probably damaging	1.00
R6063:Nxf1	UTSW	19	8,745,151 (GRCm39)	missense	possibly damaging	0.46
R6293:Nxf1	UTSW	19	8,746,546 (GRCm39)	missense	probably damaging	1.00
R6378:Nxf1	UTSW	19	8,741,910 (GRCm39)	missense	probably benign	0.19
R8170:Nxf1	UTSW	19	8,748,414 (GRCm39)	missense	probably benign	0.02
R8317:Nxf1	UTSW	19	8,748,407 (GRCm39)	missense	probably benign
R9110:Nxf1	UTSW	19	8,745,118 (GRCm39)	missense	probably damaging	1.00
R9506:Nxf1	UTSW	19	8,749,508 (GRCm39)	missense	probably damaging	0.99
R9701:Nxf1	UTSW	19	8,739,772 (GRCm39)	missense	probably damaging	1.00
R9802:Nxf1	UTSW	19	8,739,772 (GRCm39)	missense	probably damaging	1.00
RF021:Nxf1	UTSW	19	8,749,673 (GRCm39)	missense	probably damaging	1.00
X0024:Nxf1	UTSW	19	8,741,128 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCAATAACTTGTTCACGATGTGG -3'
(R):5'- AGTGGGTCACTATTCAAAGCAGAC -3'

Sequencing Primer
(F):5'- TGTTCACGATGTGGATGTAATAAAG -3'
(R):5'- ATCTTACTCGGGGGCCATC -3'

Posted On

2016-04-27