Incidental Mutation 'R9403:Dpys'
| ID |
711364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpys
|
| Ensembl Gene |
ENSMUSG00000022304 |
| Gene Name |
dihydropyrimidinase |
| Synonyms |
1300004I01Rik, DHPase, 1200017I10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39768487-39857470 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 39828071 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Serine
at position 285
(W285S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
| AlphaFold |
Q9EQF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022915
AA Change: W285S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: W285S
| 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: W285S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: W285S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
G |
6: 96,165,299 (GRCm38) |
T255P |
probably benign |
Het |
| 4930444G20Rik |
C |
T |
10: 22,067,941 (GRCm38) |
D47N |
possibly damaging |
Het |
| Angpt4 |
C |
T |
2: 151,938,972 (GRCm38) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 (GRCm38) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,927 (GRCm38) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 (GRCm38) |
V1795A |
probably benign |
Het |
| Fam187b |
T |
C |
7: 30,977,090 (GRCm38) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 (GRCm38) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 (GRCm38) |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,520,148 (GRCm38) |
M434L |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,522,256 (GRCm38) |
T130A |
probably damaging |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 (GRCm38) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 (GRCm38) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,325,660 (GRCm38) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 (GRCm38) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 (GRCm38) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,621,673 (GRCm38) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,432,970 (GRCm38) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm38) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 (GRCm38) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 (GRCm38) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 (GRCm38) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 (GRCm38) |
R635H |
probably benign |
Het |
| Olfr263 |
T |
C |
13: 21,133,695 (GRCm38) |
F307L |
probably benign |
Het |
| Olfr723 |
T |
C |
14: 49,929,449 (GRCm38) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 (GRCm38) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 (GRCm38) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 (GRCm38) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 (GRCm38) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 (GRCm38) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 (GRCm38) |
H22N |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 (GRCm38) |
|
probably benign |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 (GRCm38) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 (GRCm38) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,062,523 (GRCm38) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 (GRCm38) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 (GRCm38) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 (GRCm38) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 (GRCm38) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 (GRCm38) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 (GRCm38) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 (GRCm38) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Dpys |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Dpys
|
APN |
15 |
39,846,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01408:Dpys
|
APN |
15 |
39,793,306 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL02372:Dpys
|
APN |
15 |
39,793,271 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02949:Dpys
|
APN |
15 |
39,826,883 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03357:Dpys
|
APN |
15 |
39,824,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02837:Dpys
|
UTSW |
15 |
39,857,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Dpys
|
UTSW |
15 |
39,857,205 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0315:Dpys
|
UTSW |
15 |
39,857,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1252:Dpys
|
UTSW |
15 |
39,824,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2314:Dpys
|
UTSW |
15 |
39,828,090 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2381:Dpys
|
UTSW |
15 |
39,842,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2961:Dpys
|
UTSW |
15 |
39,784,614 (GRCm38) |
missense |
probably benign |
|
|
R4653:Dpys
|
UTSW |
15 |
39,793,246 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4702:Dpys
|
UTSW |
15 |
39,793,402 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4978:Dpys
|
UTSW |
15 |
39,826,936 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5640:Dpys
|
UTSW |
15 |
39,842,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5714:Dpys
|
UTSW |
15 |
39,857,157 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5758:Dpys
|
UTSW |
15 |
39,826,999 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6017:Dpys
|
UTSW |
15 |
39,846,718 (GRCm38) |
missense |
probably null |
0.04 |
|
R6482:Dpys
|
UTSW |
15 |
39,841,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6788:Dpys
|
UTSW |
15 |
39,857,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7090:Dpys
|
UTSW |
15 |
39,826,883 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7098:Dpys
|
UTSW |
15 |
39,793,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7869:Dpys
|
UTSW |
15 |
39,793,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8030:Dpys
|
UTSW |
15 |
39,828,090 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8092:Dpys
|
UTSW |
15 |
39,846,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8318:Dpys
|
UTSW |
15 |
39,784,665 (GRCm38) |
missense |
probably benign |
|
|
R8347:Dpys
|
UTSW |
15 |
39,857,313 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8352:Dpys
|
UTSW |
15 |
39,793,324 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8452:Dpys
|
UTSW |
15 |
39,793,324 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8914:Dpys
|
UTSW |
15 |
39,857,223 (GRCm38) |
missense |
probably benign |
|
|
R9341:Dpys
|
UTSW |
15 |
39,793,352 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9343:Dpys
|
UTSW |
15 |
39,793,352 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9473:Dpys
|
UTSW |
15 |
39,824,187 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9723:Dpys
|
UTSW |
15 |
39,828,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Dpys
|
UTSW |
15 |
39,842,099 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGGTCCTTGGATCTACAG -3'
(R):5'- TCTGGTTCACAAAAGTGAGGTG -3'
Sequencing Primer
(F):5'- GGTCCTTGGATCTACAGATTTAAGAC -3'
(R):5'- TTCACAAAAGTGAGGTGTGGGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation