Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Nxf1'

350922

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

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8734467-8748274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8740127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 98 (D98G)

Ref Sequence

ENSEMBL: ENSMUSP00000010241 (fasta)

Gene Model

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

AlphaFold

Q99JX7

Predicted Effect

probably benign
Transcript: ENSMUST00000010241
AA Change: D98G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: D98G

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 benign
Transcript: ENSMUST00000184970
AA Change: D98G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
AA Change: D98G

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

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	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
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
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'- ACCCACTGAATTATGTAGCCC -3'
(R):5'- GCATGCTACTTCCCTGTTGAG -3'

Sequencing Primer
(F):5'- ACCCACTGAATTATGTAGCCCTGATG -3'
(R):5'- GCTACTTCCCTGTTGAGTAAATG -3'

Posted On

2015-10-08