Incidental Mutation 'IGL01015:Dpys'
| ID |
53997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpys
|
| Ensembl Gene |
ENSMUSG00000022304 |
| Gene Name |
dihydropyrimidinase |
| Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
IGL01015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39710045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 128
(D128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
| AlphaFold |
Q9EQF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022915
AA Change: D128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: D128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
58 |
447 |
1.2e-39 |
PFAM |
|
Pfam:Amidohydro_3
|
310 |
448 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110306
AA Change: D128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: D128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
25 |
98 |
8.3e-14 |
PFAM |
|
Pfam:Amidohydro_4
|
53 |
404 |
4e-22 |
PFAM |
|
Pfam:Amidohydro_1
|
58 |
407 |
1e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,870,961 (GRCm39) |
Y238H |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,773,699 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,541,023 (GRCm39) |
V2368A |
probably damaging |
Het |
| Creb3l4 |
A |
G |
3: 90,150,138 (GRCm39) |
M1T |
probably null |
Het |
| Ero1b |
A |
G |
13: 12,616,623 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,743 (GRCm39) |
C1790R |
probably damaging |
Het |
| Fcgr4 |
A |
G |
1: 170,853,358 (GRCm39) |
S188G |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,346,252 (GRCm39) |
D1587G |
probably benign |
Het |
| Gm43638 |
T |
A |
5: 87,634,473 (GRCm39) |
R45* |
probably null |
Het |
| Gm7647 |
T |
A |
5: 95,111,746 (GRCm39) |
C152S |
probably benign |
Het |
| Golga3 |
T |
G |
5: 110,335,583 (GRCm39) |
M299R |
probably benign |
Het |
| Iqub |
A |
T |
6: 24,501,005 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,978,695 (GRCm39) |
Y493* |
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,242,750 (GRCm39) |
E13* |
probably null |
Het |
| Morc3 |
G |
A |
16: 93,659,534 (GRCm39) |
C446Y |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,971,024 (GRCm39) |
D1010N |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,998 (GRCm39) |
T184A |
probably damaging |
Het |
| Or2y16 |
T |
A |
11: 49,335,201 (GRCm39) |
N174K |
probably damaging |
Het |
| Or5m9 |
A |
T |
2: 85,876,996 (GRCm39) |
M57L |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,482 (GRCm39) |
H1544Y |
possibly damaging |
Het |
| Rps2-ps10 |
C |
T |
18: 61,392,896 (GRCm39) |
|
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,887 (GRCm39) |
V186A |
probably damaging |
Het |
| Snx1 |
C |
T |
9: 66,001,713 (GRCm39) |
E314K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,567,170 (GRCm39) |
Y255C |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,571 (GRCm39) |
I455K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,181 (GRCm39) |
I31V |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,996 (GRCm39) |
S360P |
probably benign |
Het |
| Uroc1 |
G |
T |
6: 90,335,883 (GRCm39) |
|
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,761 (GRCm39) |
V98E |
probably damaging |
Het |
|
| Other mutations in Dpys |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01408:Dpys
|
APN |
15 |
39,656,702 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02372:Dpys
|
APN |
15 |
39,656,667 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02949:Dpys
|
APN |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03357:Dpys
|
APN |
15 |
39,687,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Dpys
|
UTSW |
15 |
39,720,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Dpys
|
UTSW |
15 |
39,720,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0315:Dpys
|
UTSW |
15 |
39,720,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1252:Dpys
|
UTSW |
15 |
39,687,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2381:Dpys
|
UTSW |
15 |
39,705,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2961:Dpys
|
UTSW |
15 |
39,648,010 (GRCm39) |
missense |
probably benign |
|
|
R4653:Dpys
|
UTSW |
15 |
39,656,642 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4702:Dpys
|
UTSW |
15 |
39,656,798 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4978:Dpys
|
UTSW |
15 |
39,690,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5640:Dpys
|
UTSW |
15 |
39,705,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Dpys
|
UTSW |
15 |
39,720,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5758:Dpys
|
UTSW |
15 |
39,690,395 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6017:Dpys
|
UTSW |
15 |
39,710,114 (GRCm39) |
missense |
probably null |
0.04 |
|
R6482:Dpys
|
UTSW |
15 |
39,705,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Dpys
|
UTSW |
15 |
39,720,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Dpys
|
UTSW |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7098:Dpys
|
UTSW |
15 |
39,656,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Dpys
|
UTSW |
15 |
39,656,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8092:Dpys
|
UTSW |
15 |
39,710,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8318:Dpys
|
UTSW |
15 |
39,648,061 (GRCm39) |
missense |
probably benign |
|
|
R8347:Dpys
|
UTSW |
15 |
39,720,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8352:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8452:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8914:Dpys
|
UTSW |
15 |
39,720,619 (GRCm39) |
missense |
probably benign |
|
|
R9341:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9343:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9403:Dpys
|
UTSW |
15 |
39,691,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Dpys
|
UTSW |
15 |
39,687,583 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9723:Dpys
|
UTSW |
15 |
39,691,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dpys
|
UTSW |
15 |
39,705,495 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2013-06-28 |
Incidental Mutation