Incidental Mutation 'R4156:Naxe'
ID 315527
Institutional Source Beutler Lab
Gene Symbol Naxe
Ensembl Gene ENSMUSG00000028070
Gene Name NAD(P)HX epimerase
Synonyms AI-BP, Apoa1bp, APOA1BP, ESTM37
MMRRC Submission 040862-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4156 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87963827-87965802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87964011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 240 (K240R)
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: K240R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070
AA Change: K240R

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
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (44/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Acot12 C T 13: 91,932,882 (GRCm39) L552F probably benign Het
Aff4 T A 11: 53,301,726 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,539,725 (GRCm39) V750A probably damaging Het
Anapc1 A G 2: 128,469,149 (GRCm39) probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdc42bpb G A 12: 111,260,573 (GRCm39) P1702S probably benign Het
Ddx20 G T 3: 105,586,249 (GRCm39) Q699K probably benign Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Etaa1 C T 11: 17,890,281 (GRCm39) R860Q probably damaging Het
Ffar2 T A 7: 30,519,093 (GRCm39) Y149F probably damaging Het
Gamt T A 10: 80,096,558 (GRCm39) R60* probably null Het
Gm6871 T C 7: 41,195,510 (GRCm39) N302S probably damaging Het
Hps3 A G 3: 20,083,393 (GRCm39) S135P probably damaging Het
Ifi203 T A 1: 173,764,106 (GRCm39) N122I probably damaging Het
Leng9 T C 7: 4,152,433 (GRCm39) D81G possibly damaging Het
Lrrc23 T A 6: 124,747,804 (GRCm39) K262* probably null Het
Morc2b T A 17: 33,357,401 (GRCm39) T124S probably benign Het
Mroh1 G A 15: 76,286,326 (GRCm39) probably null Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Or5h18 A T 16: 58,847,931 (GRCm39) F113Y probably damaging Het
Or8h8 T C 2: 86,753,222 (GRCm39) Y218C probably damaging Het
Or8j3c C A 2: 86,253,544 (GRCm39) V159L possibly damaging Het
Papola G A 12: 105,767,010 (GRCm39) probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Plec A G 15: 76,056,453 (GRCm39) S4517P probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rxfp2 G A 5: 149,975,020 (GRCm39) V210I probably benign Het
Ryr3 T C 2: 112,484,020 (GRCm39) D3909G probably damaging Het
Spata31d1a T A 13: 59,852,861 (GRCm39) K76N possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Trim33 G T 3: 103,217,630 (GRCm39) V192L possibly damaging Het
Trpm5 G T 7: 142,642,792 (GRCm39) L52I probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Vmn1r63 T C 7: 5,806,531 (GRCm39) T34A possibly damaging Het
Vmn2r50 T C 7: 9,774,309 (GRCm39) K529R probably benign Het
Vmn2r9 T C 5: 108,995,743 (GRCm39) T302A possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably 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
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
Predicted Primers PCR Primer
(F):5'- AGGCCAGAAGACTCCAATTTC -3'
(R):5'- CTGGGGAGCAAAGTTCATGC -3'

Sequencing Primer
(F):5'- TTTCAAGACAGAAAGTACCAAGTC -3'
(R):5'- AAAGTTCATGCTGCCTGGC -3'
Posted On 2015-05-14