Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Nxf1'

483098

Institutional Source

Beutler Lab

Gene Symbol

Nxf1

Ensembl Gene

ENSMUSG00000010097

Gene Name

nuclear RNA export factor 1

Synonyms

Tip associated protein, TAP, Mex67, Mvb1

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8734467-8748274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8745186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 479 (V479M)

Ref Sequence

ENSEMBL: ENSMUSP00000010241 (fasta)

Gene Model

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

AlphaFold

Q99JX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000010241
AA Change: V479M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: V479M

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: ENSMUST00000184826

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably 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
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
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'- GTGTGAGCAGTCCAAATGGG -3'
(R):5'- GCCAAACCAAGATGGACTGG -3'

Sequencing Primer
(F):5'- GAAACAGTCAGTAGAGCTAGCC -3'
(R):5'- TCCTTGAAGACTCCATTGACAG -3'

Posted On

2017-07-14