Incidental Mutation 'R3605:Nxt1'
ID 269037
Institutional Source Beutler Lab
Gene Symbol Nxt1
Ensembl Gene ENSMUSG00000036992
Gene Name NTF2-related export protein 1
Synonyms 1110001N02Rik
MMRRC Submission 040670-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R3605 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 148514535-148517946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148517399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 47 (W47R)
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: W47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038329
Gene: ENSMUSG00000036992
AA Change: W47R

DomainStartEndE-ValueType
Pfam:NTF2 16 135 2.8e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109961
AA Change: W47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105587
Gene: ENSMUSG00000036992
AA Change: W47R

DomainStartEndE-ValueType
Pfam:NTF2 16 135 1e-30 PFAM
Meta Mutation Damage Score 0.9604 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 95% (40/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 C T 3: 96,589,497 (GRCm39) Q239* probably null Het
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Art2b T A 7: 101,229,152 (GRCm39) N249I probably benign Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cd200r1 A G 16: 44,609,939 (GRCm39) T53A possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Crb1 T A 1: 139,165,077 (GRCm39) T1016S probably damaging Het
Esrrg A G 1: 187,943,299 (GRCm39) H424R possibly damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Flrt3 T A 2: 140,503,287 (GRCm39) N114Y probably damaging Het
Fsip2 T C 2: 82,815,253 (GRCm39) V3662A probably benign Het
Gabra6 T A 11: 42,205,777 (GRCm39) I359F probably benign Het
Gal A G 19: 3,464,026 (GRCm39) probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5814 G T 17: 47,721,430 (GRCm39) R48L probably damaging Het
Hcn1 G A 13: 118,111,788 (GRCm39) G584D unknown Het
Iqgap1 T C 7: 80,373,537 (GRCm39) D1484G probably benign Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lrrc8d G A 5: 105,974,873 (GRCm39) C93Y unknown Het
Mnt T A 11: 74,727,746 (GRCm39) S211T possibly damaging Het
Mtdh T A 15: 34,114,258 (GRCm39) probably benign Het
Or4f59 T A 2: 111,873,168 (GRCm39) I70F probably benign Het
Or5k3 T C 16: 58,969,846 (GRCm39) I211T probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rpap2 A G 5: 107,768,395 (GRCm39) D411G probably damaging Het
Sapcd1 A G 17: 35,246,781 (GRCm39) F36L probably damaging Het
Svep1 A T 4: 58,066,542 (GRCm39) S3181T probably benign Het
Tgfbr2 G A 9: 115,938,960 (GRCm39) T314I probably benign Het
Thbs4 G T 13: 92,894,467 (GRCm39) C685* probably null Het
Tk2 A G 8: 104,957,803 (GRCm39) V181A possibly damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Ttn C T 2: 76,661,788 (GRCm39) probably null Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V possibly damaging Het
Zfp738 A T 13: 67,819,508 (GRCm39) L151* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACAGTCCCTGGATCCCTAAG -3'
(R):5'- AGTTCTGGTTGAAGTCCCGC -3'

Sequencing Primer
(F):5'- CTAAGGAGGAGGCGCTCAG -3'
(R):5'- GAAGTCCCGCTGTTTGTTGCC -3'
Posted On 2015-02-19