Incidental Mutation 'R0315:Dpys'
ID |
25417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpys
|
Ensembl Gene |
ENSMUSG00000022304 |
Gene Name |
dihydropyrimidinase |
Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
MMRRC Submission |
038525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R0315 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 39720734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 9
(I9L)
|
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: I9L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000022915 Gene: ENSMUSG00000022304 AA Change: I9L
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: I9L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105935 Gene: ENSMUSG00000022304 AA Change: I9L
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: ENSMUST00000150196
|
Meta Mutation Damage Score |
0.5170 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
Validation Efficiency |
100% (42/42) |
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 |
Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGTCGTCCACTGACTGCGAG -3'
(R):5'- TGCAGCTTTCAAATTCCAAGACCCC -3'
Sequencing Primer
(F):5'- TGACTGCGAGCCCATGAAC -3'
(R):5'- CTCTGTGGACTCATAAACTCAGTGG -3'
|
Posted On |
2013-04-16 |