Incidental Mutation 'R4075:Nxt1'
ID 316500
Institutional Source Beutler Lab
Gene Symbol Nxt1
Ensembl Gene ENSMUSG00000036992
Gene Name NTF2-related export protein 1
Synonyms 1110001N02Rik
MMRRC Submission 040974-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R4075 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148514535-148517946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148517652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 131 (D131G)
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: D131G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038329
Gene: ENSMUSG00000036992
AA Change: D131G

DomainStartEndE-ValueType
Pfam:NTF2 16 135 2.8e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109961
AA Change: D131G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105587
Gene: ENSMUSG00000036992
AA Change: D131G

DomainStartEndE-ValueType
Pfam:NTF2 16 135 1e-30 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Adgrf5 T G 17: 43,761,086 (GRCm39) V927G probably damaging Het
Agtr1a A G 13: 30,565,817 (GRCm39) N294S probably damaging Het
Aspm T C 1: 139,402,023 (GRCm39) L1229S probably damaging Het
Chmp7 A T 14: 69,969,730 (GRCm39) V70E probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cubn A G 2: 13,318,810 (GRCm39) V2963A possibly damaging Het
Depp1 A G 6: 116,629,029 (GRCm39) N124S possibly damaging Het
Dnah5 T A 15: 28,293,937 (GRCm39) D1347E probably benign Het
Dsg1a T G 18: 20,473,127 (GRCm39) N733K possibly damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Fsip2 C T 2: 82,813,245 (GRCm39) S3188L probably benign Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Hormad1 T C 3: 95,485,514 (GRCm39) M234T possibly damaging Het
Ifi44 A T 3: 151,451,613 (GRCm39) N164K probably benign Het
Ikzf3 G T 11: 98,358,469 (GRCm39) Y289* probably null Het
Il17rc A G 6: 113,458,158 (GRCm39) D327G possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lce1l C T 3: 92,757,540 (GRCm39) S106N unknown Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Map4k4 T C 1: 40,062,622 (GRCm39) Y1196H probably damaging Het
Mtr C A 13: 12,230,298 (GRCm39) probably null Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5bw2 T C 7: 6,573,142 (GRCm39) S51P probably benign Het
Pcdh7 A G 5: 57,879,150 (GRCm39) R902G probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptpn1 T A 2: 167,818,433 (GRCm39) probably null Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Slc28a2b T G 2: 122,344,892 (GRCm39) V166G probably benign Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Ssrp1 A C 2: 84,875,912 (GRCm39) K590N possibly damaging Het
Svs5 T C 2: 164,079,238 (GRCm39) E223G probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,764,374 (GRCm39) H417L possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp677 T C 17: 21,618,421 (GRCm39) Y493H probably damaging Het
Other mutations in Nxt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Nxt1 APN 2 148,517,316 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GCTGTTTCAGGACAAGAATCC -3'
(R):5'- GATTCTGGGAGTCCAACATCC -3'

Sequencing Primer
(F):5'- TTCCAAATCAGCGTGGTAGACTG -3'
(R):5'- AACATCCAGTCTGCAGTGCTG -3'
Posted On 2015-05-15