Incidental Mutation 'R5758:Dpys'
| ID |
445156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpys
|
| Ensembl Gene |
ENSMUSG00000022304 |
| Gene Name |
dihydropyrimidinase |
| Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
| MMRRC Submission |
043203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39690395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 319
(D319E)
|
| 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: D319E
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: D319E
| 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: D319E
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: D319E
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
| Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,976 (GRCm39) |
I517V |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
| Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,179,874 (GRCm39) |
D348G |
probably benign |
Het |
| Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
| Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
| Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
| Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
| Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,780,256 (GRCm39) |
*633Q |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
| Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
| Zfp563 |
A |
G |
17: 33,323,894 (GRCm39) |
H163R |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCTGAGTGAACCCAGACTC -3'
(R):5'- GGATTCTGCACCATAACACTTATGAG -3'
Sequencing Primer
(F):5'- TGAGTGAACCCAGACTCGTTCC -3'
(R):5'- GAGTGAGTTCTCAAAAAGTGCTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation