Incidental Mutation 'R0890:Dcxr'
| ID |
83479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcxr
|
| Ensembl Gene |
ENSMUSG00000039450 |
| Gene Name |
dicarbonyl L-xylulose reductase |
| Synonyms |
1810027P18Rik, 0610038K04Rik |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120616225-120618107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120617297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 82
(N82I)
|
| 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: N82I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: N82I
| 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: N82I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: N82I
| 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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCACAATGGCTCCTGGAACTC -3'
(R):5'- ACCTTAGGACACAATTGCAGGACAC -3'
Sequencing Primer
(F):5'- TCACCTGAGACACCTGGATG -3'
(R):5'- GACACAATTGAGCATAGCCTTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation