Incidental Mutation 'R5336:Dcxr'
ID |
500991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcxr
|
Ensembl Gene |
ENSMUSG00000039450 |
Gene Name |
dicarbonyl L-xylulose reductase |
Synonyms |
1810027P18Rik, 0610038K04Rik |
MMRRC Submission |
042844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5336 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 120618002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018156]
[ENSMUST00000026144]
[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 null
Transcript: ENSMUST00000026144
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450
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 null
Transcript: ENSMUST00000026144
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450
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 null
Transcript: ENSMUST00000106148
|
SMART Domains |
Protein: ENSMUSP00000101754 Gene: ENSMUSG00000039450
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 |
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCATGAAGAGCACACTG -3'
(R):5'- TTGGTTAGGACAGCCTTGCC -3'
Sequencing Primer
(F):5'- TCACCTCTGGACACAGTGC -3'
(R):5'- ACAGCCTTGCCTCGGTCAC -3'
|
Posted On |
2017-12-01 |