Incidental Mutation 'IGL03264:Dcxr'
| ID |
415026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcxr
|
| Ensembl Gene |
ENSMUSG00000039450 |
| Gene Name |
dicarbonyl L-xylulose reductase |
| Synonyms |
1810027P18Rik, 0610038K04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120617298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 82
(N82D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018156]
[ENSMUST00000026144]
[ENSMUST00000026148]
[ENSMUST00000106148]
[ENSMUST00000142229]
|
| AlphaFold |
Q91X52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018156
|
| SMART Domains |
Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
6 |
179 |
8.8e-139 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026144
AA Change: N82D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: N82D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
8 |
195 |
8.9e-51 |
PFAM |
|
Pfam:KR
|
9 |
175 |
7.1e-9 |
PFAM |
|
Pfam:Epimerase
|
10 |
227 |
2.3e-7 |
PFAM |
|
Pfam:adh_short_C2
|
14 |
242 |
6.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026148
|
| SMART Domains |
Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
9 |
178 |
8.5e-8 |
PFAM |
|
Pfam:adh_short
|
9 |
195 |
4.6e-55 |
PFAM |
|
Pfam:adh_short_C2
|
14 |
242 |
9.4e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106148
AA Change: N82D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: N82D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
8 |
151 |
2.1e-22 |
PFAM |
|
Pfam:KR
|
9 |
151 |
4.7e-7 |
PFAM |
|
Pfam:NAD_binding_10
|
11 |
182 |
3.9e-9 |
PFAM |
|
Pfam:adh_short_C2
|
14 |
150 |
2.2e-8 |
PFAM |
|
Pfam:adh_short_C2
|
157 |
234 |
4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142229
|
| SMART Domains |
Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
6 |
172 |
3.19e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154565
|
| SMART Domains |
Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
1 |
45 |
6.2e-10 |
PFAM |
|
Pfam:adh_short_C2
|
33 |
154 |
9.7e-18 |
PFAM |
|
Pfam:adh_short
|
41 |
123 |
2.2e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
| Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
| Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
| Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
| Dars1 |
G |
A |
1: 128,341,427 (GRCm39) |
R63C |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,677,572 (GRCm39) |
S84G |
probably benign |
Het |
| Eef1a2 |
C |
A |
2: 180,790,527 (GRCm39) |
K376N |
possibly damaging |
Het |
| Efhc1 |
G |
A |
1: 21,037,715 (GRCm39) |
M297I |
probably benign |
Het |
| Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
| Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,604,026 (GRCm39) |
T199A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
| Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
| Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dcxr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Dcxr
|
APN |
11 |
120,616,993 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01516:Dcxr
|
APN |
11 |
120,616,584 (GRCm39) |
splice site |
probably null |
|
|
IGL02151:Dcxr
|
APN |
11 |
120,616,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0890:Dcxr
|
UTSW |
11 |
120,617,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1325:Dcxr
|
UTSW |
11 |
120,617,381 (GRCm39) |
splice site |
probably null |
|
|
R1808:Dcxr
|
UTSW |
11 |
120,616,438 (GRCm39) |
splice site |
probably null |
|
|
R2099:Dcxr
|
UTSW |
11 |
120,616,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Dcxr
|
UTSW |
11 |
120,617,133 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4602:Dcxr
|
UTSW |
11 |
120,617,130 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4772:Dcxr
|
UTSW |
11 |
120,616,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5028:Dcxr
|
UTSW |
11 |
120,617,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5219:Dcxr
|
UTSW |
11 |
120,616,314 (GRCm39) |
unclassified |
probably benign |
|
|
R5336:Dcxr
|
UTSW |
11 |
120,618,002 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5518:Dcxr
|
UTSW |
11 |
120,617,025 (GRCm39) |
unclassified |
probably benign |
|
|
R6613:Dcxr
|
UTSW |
11 |
120,617,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6833:Dcxr
|
UTSW |
11 |
120,616,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Dcxr
|
UTSW |
11 |
120,617,841 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7531:Dcxr
|
UTSW |
11 |
120,617,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7633:Dcxr
|
UTSW |
11 |
120,617,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7710:Dcxr
|
UTSW |
11 |
120,617,908 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9128:Dcxr
|
UTSW |
11 |
120,617,372 (GRCm39) |
missense |
|
|
|
R9800:Dcxr
|
UTSW |
11 |
120,618,084 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Dcxr
|
UTSW |
11 |
120,618,034 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation