Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Nxf1'

483957

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 #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8734467-8748274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8745151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 467 (E467G)

Ref Sequence

ENSEMBL: ENSMUSP00000010241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000010248] [ENSMUST00000010249] [ENSMUST00000183939] [ENSMUST00000184970] [ENSMUST00000184756]

AlphaFold

Q99JX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010241
AA Change: E467G

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: E467G

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

probably benign
Transcript: ENSMUST00000010248

SMART Domains

Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097

Domain	Start	End	E-Value	Type
Pfam:TMEM223	32	197	6.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010249

SMART Domains

Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183898

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

noncoding transcript
Transcript: ENSMUST00000185056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184808

Predicted Effect

probably benign
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

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 benign
Transcript: ENSMUST00000184826

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,483,318 (GRCm39)	R1713C	unknown	Het
Ano6	C	T	15: 95,846,298 (GRCm39)	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,887,505 (GRCm39)	V46A	probably benign	Het
Art2a	C	A	7: 101,204,413 (GRCm39)	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960 (GRCm39)	V386M	probably benign	Het
B4galnt4	T	A	7: 140,644,643 (GRCm39)	D179E	probably benign	Het
Bbx	T	C	16: 50,071,730 (GRCm39)	I232V	probably benign	Het
C1ql2	A	G	1: 120,269,321 (GRCm39)	I159V	probably benign	Het
Ccar1	A	G	10: 62,612,496 (GRCm39)	V223A	possibly damaging	Het
Cd2ap	A	T	17: 43,136,802 (GRCm39)	L277I	probably benign	Het
Cfap44	G	A	16: 44,250,255 (GRCm39)	E778K	probably benign	Het
Chd3	A	T	11: 69,240,063 (GRCm39)	D1626E	probably benign	Het
Crocc	C	T	4: 140,769,032 (GRCm39)	G505S	probably benign	Het
Crocc	T	A	4: 140,773,851 (GRCm39)	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,156 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,474,296 (GRCm39)	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,316,310 (GRCm39)	V133A	probably damaging	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,353,336 (GRCm39)	L630F	probably benign	Het
Gon4l	T	C	3: 88,807,306 (GRCm39)	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340 (GRCm39)	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,781,026 (GRCm39)	T8M	probably benign	Het
Hmcn2	A	T	2: 31,324,725 (GRCm39)	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,708,576 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,579,223 (GRCm39)	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,348,764 (GRCm39)	A45V	probably damaging	Het
Intu	G	A	3: 40,608,524 (GRCm39)	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,233,141 (GRCm39)	Y73C	probably damaging	Het
Lrit1	T	C	14: 36,776,945 (GRCm39)	F22L	probably benign	Het
Lrp1b	A	T	2: 41,174,156 (GRCm39)	C699*	probably null	Het
Lrrc8d	A	G	5: 105,959,992 (GRCm39)	D134G	probably benign	Het
Map1b	T	C	13: 99,567,645 (GRCm39)	D1692G	unknown	Het
Met	C	T	6: 17,491,967 (GRCm39)	S243F	probably damaging	Het
Mlph	C	A	1: 90,855,882 (GRCm39)	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,372,582 (GRCm39)	V4088D	probably damaging	Het
Nampt	T	A	12: 32,898,658 (GRCm39)	S425T	probably damaging	Het
Nts	G	A	10: 102,320,856 (GRCm39)	H78Y	probably benign	Het
Olfml2a	C	A	2: 38,841,155 (GRCm39)	D230E	probably benign	Het
Or4b13	C	A	2: 90,082,771 (GRCm39)	C187F	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Pcsk5	A	G	19: 17,432,045 (GRCm39)		probably null	Het
Pde5a	C	A	3: 122,618,574 (GRCm39)	T629K	probably benign	Het
Plcb3	G	T	19: 6,940,202 (GRCm39)	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,574,156 (GRCm39)	M469K	probably benign	Het
Pram1	A	T	17: 33,860,386 (GRCm39)	K318*	probably null	Het
Prkd1	T	C	12: 50,388,826 (GRCm39)	R906G	probably benign	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,743 (GRCm39)	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,028,781 (GRCm39)	E735G	probably damaging	Het
Sall3	G	A	18: 81,017,470 (GRCm39)	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,123,056 (GRCm39)	M1L	possibly damaging	Het
Septin12	T	C	16: 4,810,127 (GRCm39)	E136G	probably damaging	Het
Shpk	A	T	11: 73,104,270 (GRCm39)	K140*	probably null	Het
Sidt1	G	T	16: 44,079,829 (GRCm39)	F608L	probably benign	Het
Skint5	A	G	4: 113,347,842 (GRCm39)	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,094,386 (GRCm39)	P212S	probably benign	Het
Slc22a5	A	T	11: 53,758,359 (GRCm39)	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc3a1	C	T	17: 85,335,951 (GRCm39)	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964 (GRCm38)	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,342,697 (GRCm39)	Q254*	probably null	Het
Sox30	G	A	11: 45,882,769 (GRCm39)	V600I	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tdpoz9	A	G	3: 93,957,408 (GRCm39)	F7L	probably benign	Het
Tdrd7	A	G	4: 46,005,486 (GRCm39)	T431A	probably benign	Het
Tenm2	A	T	11: 36,054,544 (GRCm39)		probably null	Het
Tigar	A	G	6: 127,068,164 (GRCm39)	S85P	probably benign	Het
Tnr	A	C	1: 159,740,254 (GRCm39)	M1143L	probably benign	Het
Trio	G	T	15: 27,891,465 (GRCm39)	Q429K	possibly damaging	Het
Urb1	T	C	16: 90,585,985 (GRCm39)	I452M	probably benign	Het
Uroc1	A	T	6: 90,324,910 (GRCm39)	E461V	probably benign	Het
Vax1	C	A	19: 59,157,036 (GRCm39)	R99L	unknown	Het
Xab2	A	T	8: 3,663,051 (GRCm39)	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,301,842 (GRCm39)	I233K	possibly damaging	Het
Zbtb47	A	G	9: 121,592,598 (GRCm39)	E306G	probably benign	Het
Zfp27	A	G	7: 29,593,727 (GRCm39)	F746S	probably damaging	Het
Zfp719	C	T	7: 43,239,050 (GRCm39)	Q213*	probably null	Het
Zswim6	T	C	13: 107,865,112 (GRCm39)		noncoding transcript	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
R4969:Nxf1	UTSW	19	8,739,669 (GRCm39)	splice site	probably null
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
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'- TGTTCTGACCACCACATCG -3'
(R):5'- CAACAGAAGTAATGGAGGTTTCC -3'

Posted On

2017-07-14