Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Nxf1'

515164

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

044528-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8734467-8748274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8741910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 145 (D145E)

Ref Sequence

ENSEMBL: ENSMUSP00000139351 (fasta)

Gene Model

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

AlphaFold

Q99JX7

Predicted Effect

probably benign
Transcript: ENSMUST00000010241
AA Change: D281E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: D281E

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
AA Change: D145E

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097
AA Change: D145E

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 benign
Transcript: ENSMUST00000184826

Predicted Effect

probably benign
Transcript: ENSMUST00000184970
AA Change: D281E

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
AA Change: D281E

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	probably benign	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
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
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'- CCCTGCGGATCATTGAAGAG -3'
(R):5'- GGAGCTCTCACCTCATAAGCATC -3'

Sequencing Primer
(F):5'- CTGCGGATCATTGAAGAGAACATTCC -3'
(R):5'- TCTCACCTCATAAGCATCACAGC -3'

Posted On

2018-05-04