Incidental Mutation 'IGL02103:Nxt1'
ID 279854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxt1
Ensembl Gene ENSMUSG00000036992
Gene Name NTF2-related export protein 1
Synonyms 1110001N02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # IGL02103
Quality Score
Status
Chromosome 2
Chromosomal Location 148514535-148517946 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 148517564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 102 (E102*)
Ref Sequence ENSEMBL: ENSMUSP00000105587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047177] [ENSMUST00000109961]
AlphaFold Q9QZV9
Predicted Effect probably null
Transcript: ENSMUST00000047177
AA Change: E102*
SMART Domains Protein: ENSMUSP00000038329
Gene: ENSMUSG00000036992
AA Change: E102*

DomainStartEndE-ValueType
Pfam:NTF2 16 135 2.8e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109961
AA Change: E102*
SMART Domains Protein: ENSMUSP00000105587
Gene: ENSMUSG00000036992
AA Change: E102*

DomainStartEndE-ValueType
Pfam:NTF2 16 135 1e-30 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,659,138 (GRCm39) T206M probably benign Het
Adcy3 T A 12: 4,184,390 (GRCm39) V22D possibly damaging Het
Alb G A 5: 90,611,990 (GRCm39) E140K probably benign Het
Aph1a G A 3: 95,803,125 (GRCm39) V193I probably damaging Het
Asb2 G A 12: 103,299,755 (GRCm39) R178* probably null Het
Celf3 A T 3: 94,394,108 (GRCm39) Q137L probably damaging Het
Cmya5 T C 13: 93,228,635 (GRCm39) D2151G probably benign Het
Cuedc1 T A 11: 88,079,625 (GRCm39) S353T probably damaging Het
Dlg5 A C 14: 24,194,414 (GRCm39) L1709R probably damaging Het
Dst T C 1: 34,229,199 (GRCm39) I1939T possibly damaging Het
Emx2 A T 19: 59,450,130 (GRCm39) N149I probably benign Het
Fancm A G 12: 65,142,558 (GRCm39) D472G probably benign Het
Fasn T C 11: 120,702,762 (GRCm39) Y1700C probably damaging Het
Fat2 T A 11: 55,180,122 (GRCm39) R1406S probably damaging Het
Fat4 C A 3: 38,943,348 (GRCm39) T747K probably damaging Het
Fer A G 17: 64,445,923 (GRCm39) M795V probably benign Het
Gm5916 A G 9: 36,039,970 (GRCm39) L6P probably damaging Het
Gpr139 A G 7: 118,744,355 (GRCm39) F77L possibly damaging Het
Kcnu1 T C 8: 26,395,976 (GRCm39) S654P possibly damaging Het
Kdm5c T A X: 151,031,762 (GRCm39) F408L probably damaging Het
Kel A G 6: 41,679,323 (GRCm39) S147P probably benign Het
Klra5 A T 6: 129,888,307 (GRCm39) probably null Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Med18 A T 4: 132,186,977 (GRCm39) V174D probably damaging Het
Mgat4a A T 1: 37,502,007 (GRCm39) M247K possibly damaging Het
Mx2 A C 16: 97,345,795 (GRCm39) D71A probably damaging Het
Or14j1 A G 17: 38,146,169 (GRCm39) Q93R possibly damaging Het
Or3a1 A G 11: 74,225,862 (GRCm39) F65S probably damaging Het
Or7g16 T C 9: 18,727,005 (GRCm39) N195S probably damaging Het
Pcdhb16 T A 18: 37,613,161 (GRCm39) V707E probably benign Het
Pdzrn4 T A 15: 92,667,768 (GRCm39) V640E probably damaging Het
Piwil4 T C 9: 14,637,282 (GRCm39) probably null Het
Pla2g4a A T 1: 149,776,950 (GRCm39) D55E probably damaging Het
Plekhg2 C A 7: 28,059,501 (GRCm39) R1276L probably damaging Het
Psd4 G A 2: 24,290,540 (GRCm39) W539* probably null Het
Rae1 G A 2: 172,845,306 (GRCm39) E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 (GRCm39) F512I probably damaging Het
Rfx6 A G 10: 51,602,952 (GRCm39) D823G possibly damaging Het
Samt3 A T X: 85,090,759 (GRCm39) Q217L probably damaging Het
Selenbp2 A G 3: 94,605,438 (GRCm39) N134S probably null Het
Selenoo T C 15: 88,984,173 (GRCm39) V663A probably damaging Het
Sp4 G T 12: 118,263,284 (GRCm39) T254N probably damaging Het
Spdya A G 17: 71,885,242 (GRCm39) K232R probably benign Het
Stom A T 2: 35,210,401 (GRCm39) V201E probably benign Het
Sycp3 A G 10: 88,302,334 (GRCm39) K108R possibly damaging Het
Usp2 A G 9: 44,000,425 (GRCm39) probably benign Het
Vmn1r226 T C 17: 20,907,926 (GRCm39) S53P probably damaging Het
Vmn2r14 C T 5: 109,372,349 (GRCm39) G47D probably damaging Het
Vwf T G 6: 125,623,318 (GRCm39) L1805W probably damaging Het
Washc3 A T 10: 88,037,687 (GRCm39) Q22L probably damaging Het
Wdr81 T A 11: 75,335,546 (GRCm39) D1761V probably damaging Het
Other mutations in Nxt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Nxt1 APN 2 148,517,316 (GRCm39) missense probably damaging 0.97
IGL02958:Nxt1 APN 2 148,517,692 (GRCm39) utr 3 prime probably benign
R0139:Nxt1 UTSW 2 148,517,390 (GRCm39) missense probably benign 0.01
R3605:Nxt1 UTSW 2 148,517,399 (GRCm39) missense probably damaging 1.00
R4075:Nxt1 UTSW 2 148,517,652 (GRCm39) missense probably damaging 0.98
R4235:Nxt1 UTSW 2 148,517,267 (GRCm39) missense probably benign 0.28
R5685:Nxt1 UTSW 2 148,517,673 (GRCm39) missense possibly damaging 0.95
R9034:Nxt1 UTSW 2 148,517,331 (GRCm39) missense possibly damaging 0.77
R9138:Nxt1 UTSW 2 148,517,572 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16