Incidental Mutation 'IGL00840:Naxe'
| ID |
13301 |
| 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)
|
| Stock # |
IGL00840
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87963827-87965802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87965290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 108
(I108V)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: I108V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029708
Gene: ENSMUSG00000028070
AA Change: I108V
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
| Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
| F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
| Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
| Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
| Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
| Other mutations in Naxe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9726:Naxe
|
UTSW |
3 |
87,965,719 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation