Incidental Mutation 'IGL01516:Dcxr'
ID |
90394 |
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 # |
IGL01516
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
Type of Mutation |
splice site (2152 bp from exon) |
DNA Base Change (assembly) |
A to G
at 120616584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018156]
[ENSMUST00000026139]
[ENSMUST00000026144]
[ENSMUST00000026148]
[ENSMUST00000106148]
[ENSMUST00000145781]
[ENSMUST00000142229]
|
AlphaFold |
Q91X52 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018156
|
SMART Domains |
Protein: ENSMUSP00000018156 Gene: ENSMUSG00000018012
Domain | Start | End | E-Value | Type |
RHO
|
6 |
179 |
8.8e-139 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026139
|
SMART Domains |
Protein: ENSMUSP00000026139 Gene: ENSMUSG00000025145
Domain | Start | End | E-Value | Type |
LRR
|
57 |
84 |
9.11e0 |
SMART |
LRR
|
85 |
112 |
1.01e-1 |
SMART |
Blast:LRR
|
113 |
142 |
4e-11 |
BLAST |
LRR
|
143 |
170 |
4.47e-3 |
SMART |
LRR
|
171 |
198 |
2.2e-2 |
SMART |
LRR
|
199 |
226 |
1.66e2 |
SMART |
coiled coil region
|
360 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026144
AA Change: I204T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450 AA Change: I204T
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: I196T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101754 Gene: ENSMUSG00000039450 AA Change: I196T
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: ENSMUST00000149450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145781
|
SMART Domains |
Protein: ENSMUSP00000123038 Gene: ENSMUSG00000025145
Domain | Start | End | E-Value | Type |
LRR
|
57 |
84 |
9.11e0 |
SMART |
LRR
|
85 |
112 |
1.01e-1 |
SMART |
Blast:LRR
|
113 |
142 |
1e-10 |
BLAST |
LRR
|
143 |
170 |
4.47e-3 |
SMART |
LRR
|
171 |
198 |
2.2e-2 |
SMART |
LRR
|
199 |
226 |
1.66e2 |
SMART |
coiled coil region
|
360 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
Clk1 |
G |
A |
1: 58,453,563 (GRCm39) |
T341I |
probably damaging |
Het |
Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
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 |
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 |
2013-12-09 |