Incidental Mutation 'IGL01408:Dpys'
ID |
79865 |
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 # |
IGL01408
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39656702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 455
(V455A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105935
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
AlphaFold |
Q9EQF5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022915
AA Change: V455A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022915 Gene: ENSMUSG00000022304 AA Change: V455A
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 |
possibly damaging
Transcript: ENSMUST00000110306
AA Change: V455A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105935 Gene: ENSMUSG00000022304 AA Change: V455A
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably damaging |
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 |
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 |
2013-11-05 |