Incidental Mutation 'R9726:Naxe'
ID 731023
Institutional Source Beutler Lab
Gene Symbol Naxe
Ensembl Gene ENSMUSG00000028070
Gene Name NAD(P)HX epimerase
Synonyms AI-BP, Apoa1bp, APOA1BP, ESTM37
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9726 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87963827-87965802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87965719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 27 (S27G)
Ref Sequence ENSEMBL: ENSMUSP00000029708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029707] [ENSMUST00000029708] [ENSMUST00000166021] [ENSMUST00000193398] [ENSMUST00000194258]
AlphaFold Q8K4Z3
PDB Structure Crystal Structure of Mouse Apolipoprotein A-I Binding Protein [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with NADP. [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with Thymine. [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with Thymidine [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with Thymidine 3'-monophosphate [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with Theophylline [X-RAY DIFFRACTION]
Crystal Structure of Mouse Apolipoprotein A-I Binding Protein in Complex with Nicotinamide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000029707
SMART Domains Protein: ENSMUSP00000029707
Gene: ENSMUSG00000028069

DomainStartEndE-ValueType
G_patch 9 55 2.3e-8 SMART
low complexity region 204 213 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 257 268 N/A INTRINSIC
low complexity region 282 289 N/A INTRINSIC
low complexity region 350 363 N/A INTRINSIC
low complexity region 396 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029708
AA Change: S27G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070
AA Change: S27G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:YjeF_N 74 241 6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166021
SMART Domains Protein: ENSMUSP00000132699
Gene: ENSMUSG00000028069

DomainStartEndE-ValueType
G_patch 9 55 2.3e-8 SMART
low complexity region 204 213 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 257 268 N/A INTRINSIC
low complexity region 282 289 N/A INTRINSIC
low complexity region 350 363 N/A INTRINSIC
low complexity region 396 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193398
SMART Domains Protein: ENSMUSP00000141786
Gene: ENSMUSG00000028069

DomainStartEndE-ValueType
G_patch 9 55 2.3e-8 SMART
low complexity region 204 213 N/A INTRINSIC
low complexity region 234 252 N/A INTRINSIC
low complexity region 257 268 N/A INTRINSIC
low complexity region 282 289 N/A INTRINSIC
low complexity region 350 363 N/A INTRINSIC
low complexity region 396 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194258
SMART Domains Protein: ENSMUSP00000141477
Gene: ENSMUSG00000028069

DomainStartEndE-ValueType
G_patch 9 55 1.3e-10 SMART
low complexity region 204 213 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T C 6: 72,325,650 (GRCm39) V122A probably damaging Het
Ago2 T C 15: 72,998,919 (GRCm39) Y226C probably damaging Het
Akap9 A G 5: 4,053,757 (GRCm39) K1574R probably benign Het
Apob T C 12: 8,056,926 (GRCm39) Y1803H probably damaging Het
Atosb T C 4: 43,034,991 (GRCm39) D302G probably damaging Het
Bex6 A T 16: 32,005,243 (GRCm39) D17V probably damaging Het
Cd72 T G 4: 43,452,641 (GRCm39) probably null Het
Cdcp2 C A 4: 106,959,936 (GRCm39) S117Y probably damaging Het
Cenpx A G 11: 120,603,328 (GRCm39) L22P unknown Het
Cep135 A G 5: 76,741,151 (GRCm39) T76A probably benign Het
Cps1 A T 1: 67,195,395 (GRCm39) Q272L probably benign Het
Cul4a C T 8: 13,156,208 (GRCm39) P55S probably benign Het
Cyp2f2 C T 7: 26,821,411 (GRCm39) T108I probably damaging Het
Dapk1 T C 13: 60,898,948 (GRCm39) V806A probably benign Het
Dgki T C 6: 37,276,858 (GRCm39) H9R unknown Het
Dmxl2 A T 9: 54,322,996 (GRCm39) S1289T probably benign Het
Dock8 T A 19: 25,154,374 (GRCm39) V1691D probably damaging Het
Dock9 A C 14: 121,835,149 (GRCm39) L1280R possibly damaging Het
Dync2h1 G A 9: 7,077,999 (GRCm39) S2901F possibly damaging Het
Fkbp8 A G 8: 70,987,529 (GRCm39) K380E probably damaging Het
Ggta1 T C 2: 35,292,422 (GRCm39) Y295C probably damaging Het
Gm7145 A G 1: 117,913,706 (GRCm39) N196S possibly damaging Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Ighv11-1 T A 12: 113,945,623 (GRCm39) I77L probably benign Het
Kcnmb3 A G 3: 32,536,512 (GRCm39) V72A possibly damaging Het
Kel C T 6: 41,678,971 (GRCm39) G164D probably damaging Het
Krba1 C A 6: 48,389,298 (GRCm39) T606N possibly damaging Het
Lig3 T C 11: 82,674,420 (GRCm39) L82P possibly damaging Het
Limd1 T C 9: 123,308,984 (GRCm39) S228P probably benign Het
Mlf2 C T 6: 124,911,621 (GRCm39) R157W probably benign Het
Oprm1 T A 10: 6,929,694 (GRCm39) C345S probably benign Het
Or4c108 T A 2: 88,804,221 (GRCm39) T5S probably benign Het
Or6c210 A G 10: 129,495,920 (GRCm39) I82V possibly damaging Het
Oscp1 C A 4: 125,970,626 (GRCm39) D138E probably benign Het
Panx3 T A 9: 37,572,992 (GRCm39) Y186F probably damaging Het
Pip5kl1 T C 2: 32,473,391 (GRCm39) Y343H probably damaging Het
Rasgef1b T C 5: 99,382,349 (GRCm39) T214A probably damaging Het
Rims1 C A 1: 22,669,493 (GRCm39) W105L probably null Het
Serpina3f C T 12: 104,184,698 (GRCm39) P281S probably damaging Het
Sgsm1 T C 5: 113,458,418 (GRCm39) K20R probably benign Het
Sigirr A G 7: 140,672,123 (GRCm39) L274P probably damaging Het
Slc44a1 T C 4: 53,491,410 (GRCm39) V49A probably benign Het
Spata31h1 T C 10: 82,118,605 (GRCm39) S4802G unknown Het
Sstr1 G A 12: 58,259,484 (GRCm39) D36N probably benign Het
Stab2 T A 10: 86,790,095 (GRCm39) D557V probably benign Het
Topaz1 GCAGGGGGATGAGAAGGTA G 9: 122,603,934 (GRCm39) probably benign Het
Topaz1 CAGGGGGATGAGAAGGTAAAG CAG 9: 122,603,935 (GRCm39) probably benign Het
Trio G T 15: 27,912,752 (GRCm39) Q101K unknown Het
Vmn1r185 T A 7: 26,310,783 (GRCm39) I241F probably damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfy1 A G Y: 725,476 (GRCm39) F763S possibly damaging Het
Other mutations in Naxe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Naxe APN 3 87,965,290 (GRCm39) missense probably benign 0.00
IGL01287:Naxe APN 3 87,963,981 (GRCm39) missense probably damaging 1.00
IGL02186:Naxe APN 3 87,964,305 (GRCm39) missense probably damaging 1.00
R0844:Naxe UTSW 3 87,965,715 (GRCm39) missense probably benign 0.12
R1780:Naxe UTSW 3 87,964,440 (GRCm39) missense probably benign 0.01
R4156:Naxe UTSW 3 87,964,011 (GRCm39) missense probably benign 0.03
R4520:Naxe UTSW 3 87,965,289 (GRCm39) splice site probably null
R5590:Naxe UTSW 3 87,963,840 (GRCm39) splice site probably null
R6170:Naxe UTSW 3 87,965,537 (GRCm39) missense probably damaging 1.00
R6365:Naxe UTSW 3 87,965,298 (GRCm39) missense probably damaging 1.00
R8249:Naxe UTSW 3 87,965,695 (GRCm39) missense possibly damaging 0.93
R8369:Naxe UTSW 3 87,963,994 (GRCm39) missense probably benign 0.00
R8429:Naxe UTSW 3 87,965,459 (GRCm39) missense probably damaging 1.00
R8493:Naxe UTSW 3 87,965,757 (GRCm39) unclassified probably benign
R8913:Naxe UTSW 3 87,965,665 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCACGCTGAACTGATACTCG -3'
(R):5'- CTGATAGTCTGGGACTAGGAACGG -3'

Sequencing Primer
(F):5'- CGTTAAAAAGCTCTTGGTCCACGG -3'
(R):5'- GACGGTTAGATGCAGAGGCTC -3'
Posted On 2022-10-06