Incidental Mutation 'IGL01088:Dcxr'
ID |
52261 |
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 # |
IGL01088
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120616993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 123
(I123M)
|
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 |
possibly damaging
Transcript: ENSMUST00000026144
AA Change: I123M
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450 AA Change: I123M
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 |
possibly damaging
Transcript: ENSMUST00000106148
AA Change: I123M
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101754 Gene: ENSMUSG00000039450 AA Change: I123M
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: ENSMUST00000149450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154479
|
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 |
|
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dcxr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03264:Dcxr
|
APN |
11 |
120,617,298 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |