Incidental Mutation 'IGL02372:Dpys'
ID |
290958 |
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 # |
IGL02372
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39656667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 467
(P467T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105935
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
AlphaFold |
Q9EQF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022915
AA Change: P467T
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022915 Gene: ENSMUSG00000022304 AA Change: P467T
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 benign
Transcript: ENSMUST00000110306
AA Change: P467T
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105935 Gene: ENSMUSG00000022304 AA Change: P467T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147378
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155859
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
Ccnb1 |
A |
G |
13: 100,917,824 (GRCm39) |
Y259H |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dpys |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01015:Dpys
|
APN |
15 |
39,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01408:Dpys
|
APN |
15 |
39,656,702 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
2015-04-16 |