Mutagenetix > Incidental Mutation

Incidental Mutation 'R9064:Nxt2'

689181

Institutional Source

Beutler Lab

Gene Symbol

Nxt2

Ensembl Gene

ENSMUSG00000042271

Gene Name

nuclear transport factor 2-like export factor 2

Synonyms

P15-2, 6330587F24Rik

MMRRC Submission

068889-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R9064 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

141009766-141022688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141020747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 118 (A118V)

Ref Sequence

ENSEMBL: ENSMUSP00000108536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042329] [ENSMUST00000112913] [ENSMUST00000112914] [ENSMUST00000112916]

AlphaFold

Q3UNA4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042329
AA Change: A118V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048221
Gene: ENSMUSG00000042271
AA Change: A118V

Domain	Start	End	E-Value	Type
Pfam:NTF2	17	136	3.5e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112913
AA Change: A90V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108535
Gene: ENSMUSG00000042271
AA Change: A90V

Domain	Start	End	E-Value	Type
Pfam:NTF2	1	108	1.4e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112914
AA Change: A118V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108536
Gene: ENSMUSG00000042271
AA Change: A118V

Domain	Start	End	E-Value	Type
Pfam:NTF2	17	136	3.5e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112916
AA Change: A174V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108538
Gene: ENSMUSG00000042271
AA Change: A174V

Domain	Start	End	E-Value	Type
Pfam:NTF2	73	192	1.5e-31	PFAM

Meta Mutation Damage Score

0.4261

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,463,510 (GRCm39)	E598G	probably benign	Het
Adgrb3	T	C	1: 25,570,965 (GRCm39)	E504G	possibly damaging	Het
Ank3	T	C	10: 69,822,185 (GRCm39)	S285P		Het
Ankrd28	G	A	14: 31,454,005 (GRCm39)	H410Y	probably damaging	Het
Armh1	C	A	4: 117,094,855 (GRCm39)	V62L	probably benign	Het
Atp8b1	A	G	18: 64,697,491 (GRCm39)	I451T	probably benign	Het
C2cd3	A	G	7: 100,059,608 (GRCm39)	D245G		Het
Calr3	T	C	8: 73,188,674 (GRCm39)	K151R	possibly damaging	Het
Cenpq	G	A	17: 41,243,731 (GRCm39)	T39I	probably benign	Het
Cep126	T	C	9: 8,103,341 (GRCm39)	D223G	possibly damaging	Het
Chd2	A	T	7: 73,143,279 (GRCm39)	I538K	possibly damaging	Het
Cyp3a41b	C	T	5: 145,514,910 (GRCm39)	R105Q	probably damaging	Het
Dnah6	C	A	6: 73,126,156 (GRCm39)	R1327L	probably benign	Het
Exd2	T	C	12: 80,531,148 (GRCm39)		probably null	Het
Fam118a	T	C	15: 84,930,039 (GRCm39)	V89A	probably damaging	Het
Fbxo40	A	T	16: 36,791,002 (GRCm39)	I36K	probably damaging	Het
Fntb	A	G	12: 76,934,640 (GRCm39)	N170S	probably benign	Het
Frzb	A	G	2: 80,277,052 (GRCm39)	S45P	probably benign	Het
Gm4841	T	C	18: 60,403,961 (GRCm39)	E44G	probably benign	Het
Hecw2	C	A	1: 53,866,045 (GRCm39)	A1539S	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kcnh5	A	T	12: 75,177,727 (GRCm39)	C126*	probably null	Het
Kdm5a	TAGAAGAAG	TAGAAG	6: 120,403,869 (GRCm39)		probably benign	Het
Kremen2	A	G	17: 23,961,736 (GRCm39)	L257P	possibly damaging	Het
Mcat	A	C	15: 83,432,134 (GRCm39)	F245V	probably damaging	Het
Mdm2	T	C	10: 117,538,235 (GRCm39)	I54M	probably benign	Het
Muc4	A	G	16: 32,754,397 (GRCm38)	T1424A	possibly damaging	Het
Mylk3	T	C	8: 86,081,940 (GRCm39)	T416A	probably benign	Het
Nol4	T	A	18: 22,903,850 (GRCm39)	D156V		Het
Nxpe4	T	C	9: 48,309,964 (GRCm39)	V409A	probably benign	Het
Obscn	G	T	11: 58,899,935 (GRCm39)	T966K		Het
Or10j3b	C	T	1: 173,044,060 (GRCm39)	L281F	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or14c42-ps1	A	G	7: 86,211,371 (GRCm39)	T144A	unknown	Het
Phip	C	T	9: 82,753,540 (GRCm39)	V1735I	probably benign	Het
Pkhd1l1	A	T	15: 44,426,038 (GRCm39)	T3200S	possibly damaging	Het
Prdm4	T	C	10: 85,737,678 (GRCm39)	N496S	probably damaging	Het
Proser1	C	T	3: 53,384,927 (GRCm39)	L270F	probably damaging	Het
Psmd11	T	C	11: 80,336,069 (GRCm39)	V107A	probably damaging	Het
Rassf10	A	T	7: 112,554,315 (GRCm39)	E305D	probably benign	Het
Rbm45	T	C	2: 76,202,446 (GRCm39)	I123T	probably damaging	Het
Rpp25	G	T	9: 57,411,635 (GRCm39)	R39L	probably damaging	Het
Rreb1	A	G	13: 38,115,326 (GRCm39)	N895S	possibly damaging	Het
Sirpa	A	T	2: 129,458,460 (GRCm39)	S359C	possibly damaging	Het
Slc26a9	T	A	1: 131,680,703 (GRCm39)	C83S	probably benign	Het
Spink5	T	G	18: 44,100,193 (GRCm39)	L70R	probably damaging	Het
Stil	T	G	4: 114,898,932 (GRCm39)	N1187K	probably benign	Het
Sucla2	A	T	14: 73,828,303 (GRCm39)	E303D	probably benign	Het
Supt3	G	A	17: 45,305,295 (GRCm39)		probably null	Het
Tmc5	G	T	7: 118,233,270 (GRCm39)	S28I	probably benign	Het
Vps8	T	C	16: 21,288,979 (GRCm39)	V444A	probably damaging	Het

Other mutations in Nxt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R9016:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9018:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9065:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9066:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9114:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9115:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9144:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9145:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9146:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9147:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9148:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9149:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9326:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9327:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9480:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
R9521:Nxt2	UTSW	X	141,020,747 (GRCm39)	missense	possibly damaging	0.78
X0064:Nxt2	UTSW	X	141,012,590 (GRCm39)	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GATGCCTGCTTAAAGTACAGAATAG -3'
(R):5'- CCAAACTGGCAGCTGATCTAG -3'

Sequencing Primer
(F):5'- GCTAAAGAGCAAGCTACCC -3'
(R):5'- TGGACCAATAGAGTGGGT -3'

Posted On

2021-11-19