Incidental Mutation 'IGL01357:Nxt1'
ID 75550
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: 0.911) question?
Stock # IGL01357
Quality Score
Status
Chromosome 2
Chromosomal Location 148514535-148517946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148517316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 19 (E19G)
Ref Sequence ENSEMBL: ENSMUSP00000105587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047177] [ENSMUST00000109961]
AlphaFold Q9QZV9
Predicted Effect probably damaging
Transcript: ENSMUST00000047177
AA Change: E19G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038329
Gene: ENSMUSG00000036992
AA Change: E19G

DomainStartEndE-ValueType
Pfam:NTF2 16 135 2.8e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109961
AA Change: E19G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105587
Gene: ENSMUSG00000036992
AA Change: E19G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 125,366,072 (GRCm39) V224F probably damaging Het
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
Axl A G 7: 25,473,594 (GRCm39) L344P probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mal C A 2: 127,482,234 (GRCm39) M56I probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in Nxt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Nxt1 APN 2 148,517,564 (GRCm39) nonsense probably null
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 2013-10-07