Incidental Mutation 'IGL01287:Naxe'
ID 72778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naxe
Ensembl Gene ENSMUSG00000028070
Gene Name NAD(P)HX epimerase
Synonyms AI-BP, Apoa1bp, APOA1BP, ESTM37
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01287
Quality Score
Status
Chromosome 3
Chromosomal Location 87963827-87965802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87963981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 250 (H250R)
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 damaging
Transcript: ENSMUST00000029708
AA Change: H250R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070
AA Change: H250R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194380
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Maob G A X: 16,578,881 (GRCm39) A424V probably damaging Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Nek5 T C 8: 22,601,199 (GRCm39) N174S possibly damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or51l14 C T 7: 103,101,002 (GRCm39) R153W probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Pmm1 T C 15: 81,839,945 (GRCm39) T127A probably damaging Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Slfn5 A G 11: 82,847,807 (GRCm39) T231A probably damaging Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Naxe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Naxe APN 3 87,965,290 (GRCm39) missense probably benign 0.00
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
R9726:Naxe UTSW 3 87,965,719 (GRCm39) missense probably benign
Posted On 2013-10-07