Incidental Mutation 'R5590:Naxe'
ID 437407
Institutional Source Beutler Lab
Gene Symbol Naxe
Ensembl Gene ENSMUSG00000028070
Gene Name NAD(P)HX epimerase
Synonyms AI-BP, Apoa1bp, APOA1BP, ESTM37
MMRRC Submission 043143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5590 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87963827-87965802 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 87963840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000029708
SMART Domains Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik T G 4: 124,504,280 (GRCm39) M91L unknown Het
A2m C T 6: 121,653,891 (GRCm39) T1408M probably damaging Het
Abca16 C T 7: 120,143,995 (GRCm39) T1671M probably damaging Het
Adamts8 A T 9: 30,862,632 (GRCm39) N279I probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Aldh4a1 T A 4: 139,369,415 (GRCm39) V322E probably damaging Het
Atp12a A T 14: 56,610,837 (GRCm39) Y327F probably benign Het
C4b T C 17: 34,959,309 (GRCm39) T422A probably damaging Het
Cacna1c A T 6: 118,664,143 (GRCm39) S668T probably damaging Het
Cchcr1 A T 17: 35,837,577 (GRCm39) E426D probably damaging Het
Ccr3 G A 9: 123,828,830 (GRCm39) G55D probably damaging Het
Cdipt T A 7: 126,578,704 (GRCm39) probably null Het
Cep19 A G 16: 31,922,716 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cyp3a11 C A 5: 145,802,787 (GRCm39) M235I probably benign Het
Dnajc21 A T 15: 10,462,363 (GRCm39) D87E possibly damaging Het
Ell A C 8: 70,992,357 (GRCm39) M1L possibly damaging Het
Esyt3 T C 9: 99,240,466 (GRCm39) probably benign Het
Ets1 T C 9: 32,640,094 (GRCm39) probably benign Het
Fam222b T A 11: 78,045,858 (GRCm39) M473K probably benign Het
Fanca T C 8: 124,030,702 (GRCm39) probably benign Het
Fbrsl1 G T 5: 110,529,484 (GRCm39) A67D probably damaging Het
Fchsd1 G A 18: 38,094,380 (GRCm39) P622L probably damaging Het
Gal3st2c T G 1: 93,936,023 (GRCm39) probably null Het
Gins2 T G 8: 121,308,486 (GRCm39) H166P possibly damaging Het
Gm10118 A T 10: 63,762,845 (GRCm39) probably benign Het
Gm9979 A T 13: 40,859,289 (GRCm39) noncoding transcript Het
Hspbap1 A G 16: 35,622,033 (GRCm39) Y126C probably damaging Het
Hspd1 A T 1: 55,123,928 (GRCm39) I64N probably damaging Het
Igkv3-4 A T 6: 70,649,267 (GRCm39) S89C probably damaging Het
Il10ra T A 9: 45,176,924 (GRCm39) K134* probably null Het
Il12rb1 G A 8: 71,266,411 (GRCm39) C252Y possibly damaging Het
Il24 A T 1: 130,810,253 (GRCm39) V201E possibly damaging Het
Inpp1 A G 1: 52,833,820 (GRCm39) I92T probably damaging Het
Kcnh5 T C 12: 75,023,463 (GRCm39) D535G probably benign Het
Kcnq4 T A 4: 120,573,082 (GRCm39) I240F probably damaging Het
Kctd17 G A 15: 78,321,502 (GRCm39) probably benign Het
Leo1 T A 9: 75,364,423 (GRCm39) I521N possibly damaging Het
Mdga1 A G 17: 30,058,841 (GRCm39) L722P probably damaging Het
Met G T 6: 17,548,781 (GRCm39) V942L probably benign Het
Mfn1 A T 3: 32,617,996 (GRCm39) T110S probably benign Het
Mrps15 T C 4: 125,942,488 (GRCm39) I79T probably benign Het
Mycbp2 A C 14: 103,360,791 (GRCm39) M4497R probably damaging Het
Mylk T A 16: 34,699,722 (GRCm39) S362T probably benign Het
Mypn A G 10: 62,955,827 (GRCm39) F1209L probably benign Het
Nab2 T C 10: 127,500,526 (GRCm39) S189G probably damaging Het
Ncf1 A G 5: 134,252,355 (GRCm39) V232A probably damaging Het
Nell1 A G 7: 49,929,359 (GRCm39) Y422C probably damaging Het
Nmnat2 G T 1: 152,969,807 (GRCm39) G176V probably damaging Het
Npr1 A G 3: 90,362,149 (GRCm39) S999P probably damaging Het
Nuak1 T C 10: 84,211,119 (GRCm39) D323G probably benign Het
Or4d10b A G 19: 12,036,642 (GRCm39) V158A probably benign Het
Or5h23 A G 16: 58,906,360 (GRCm39) F162S probably benign Het
Or8b3b T A 9: 38,584,261 (GRCm39) T160S probably damaging Het
Osbpl8 T C 10: 111,108,029 (GRCm39) S342P probably damaging Het
Pag1 A T 3: 9,764,482 (GRCm39) Y224N probably damaging Het
Pald1 T A 10: 61,179,489 (GRCm39) H460L probably damaging Het
Per2 G A 1: 91,355,578 (GRCm39) Q727* probably null Het
Pex19 T C 1: 171,960,779 (GRCm39) V134A probably benign Het
Phlpp1 A T 1: 106,320,657 (GRCm39) I1551F possibly damaging Het
Ppef2 A T 5: 92,386,998 (GRCm39) V313D probably damaging Het
Prorp T C 12: 55,351,257 (GRCm39) S189P possibly damaging Het
Pzp A C 6: 128,500,759 (GRCm39) F153C probably damaging Het
Rasl11a A G 5: 146,782,052 (GRCm39) H9R probably benign Het
Rfx3 A T 19: 27,779,780 (GRCm39) probably null Het
Rmnd5b A T 11: 51,518,789 (GRCm39) I68N probably damaging Het
Senp5 T A 16: 31,808,331 (GRCm39) S281C probably damaging Het
Sh3rf1 G A 8: 61,814,766 (GRCm39) E442K probably benign Het
Slc12a3 G A 8: 95,072,416 (GRCm39) V645M probably damaging Het
Slc22a16 T C 10: 40,457,337 (GRCm39) F193L possibly damaging Het
Slc35f1 A T 10: 52,984,274 (GRCm39) T345S possibly damaging Het
Slc9a1 G A 4: 133,148,874 (GRCm39) R704H probably damaging Het
Spta1 A T 1: 174,003,336 (GRCm39) Y89F possibly damaging Het
Sspo A G 6: 48,451,425 (GRCm39) E2741G probably damaging Het
Strn4 G A 7: 16,567,799 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,132 (GRCm39) T1859A probably damaging Het
Tbc1d14 A T 5: 36,682,389 (GRCm39) Y3N probably damaging Het
Tdrd9 C A 12: 112,018,414 (GRCm39) R1278S probably benign Het
Tenm4 C A 7: 96,446,608 (GRCm39) A826E possibly damaging Het
Tenm4 G T 7: 96,446,607 (GRCm39) A826S possibly damaging Het
Tet2 C T 3: 133,182,241 (GRCm39) probably null Het
Tfec A G 6: 16,834,199 (GRCm39) L236P probably benign Het
Tjap1 A G 17: 46,569,797 (GRCm39) S388P probably damaging Het
Tle1 T C 4: 72,043,208 (GRCm39) T554A possibly damaging Het
Tmem17 G A 11: 22,467,450 (GRCm39) V83I probably benign Het
Tnrc6b C T 15: 80,760,703 (GRCm39) H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 (GRCm39) probably benign Het
Top3b T A 16: 16,709,441 (GRCm39) probably benign Het
Tph1 T C 7: 46,303,216 (GRCm39) H254R probably damaging Het
Tpte T C 8: 22,841,468 (GRCm39) Y487H probably damaging Het
Trappc13 T A 13: 104,284,749 (GRCm39) D241V probably damaging Het
Trrap A G 5: 144,719,075 (GRCm39) I193V probably benign Het
Tspear A T 10: 77,706,199 (GRCm39) H323L probably benign Het
Ttc39a A T 4: 109,290,184 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubg1 A G 11: 101,014,858 (GRCm39) D200G probably damaging Het
Ugdh C A 5: 65,580,217 (GRCm39) probably benign Het
Uso1 A G 5: 92,328,467 (GRCm39) N355D probably benign Het
Vamp4 T C 1: 162,420,248 (GRCm39) probably null Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vps52 A G 17: 34,180,195 (GRCm39) T300A probably benign Het
Wt1 A T 2: 104,957,629 (GRCm39) H163L probably damaging Het
Xirp2 T C 2: 67,344,379 (GRCm39) S2207P probably benign Het
Xpo6 A T 7: 125,706,250 (GRCm39) I30N probably damaging Het
Zfp386 T A 12: 116,023,347 (GRCm39) I320K probably benign 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
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'- AGGAATCCTGTTACCCTCTGG -3'
(R):5'- ACTCATCTCACTGACGGCAC -3'

Sequencing Primer
(F):5'- GGGGTCTTGCTACAATGATACAC -3'
(R):5'- TGACGGCACCCAAGAAGTCTG -3'
Posted On 2016-10-26