Incidental Mutation 'R5028:Dcxr'
| ID |
391523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcxr
|
| Ensembl Gene |
ENSMUSG00000039450 |
| Gene Name |
dicarbonyl L-xylulose reductase |
| Synonyms |
1810027P18Rik, 0610038K04Rik |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120617273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 90
(Q90P)
|
| 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: Q90P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: Q90P
| 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: Q90P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: Q90P
| 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: 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 |
|
| Meta Mutation Damage Score |
0.5729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGATGACAGCCCGAAGATTC -3'
(R):5'- GTCCAGTTTTCCCAGACTGC -3'
Sequencing Primer
(F):5'- GCCCGAAGATTCACATTGAAGGATC -3'
(R):5'- CACCTTAGGACACAATTGCAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation