Incidental Mutation 'IGL03106:Dpyd'
| ID |
418965 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118988783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 749
(T749S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: T749S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: T749S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer4_20
|
55 |
168 |
4.6e-35 |
PFAM |
|
Pfam:Pyr_redox_2
|
188 |
499 |
1.5e-15 |
PFAM |
|
Pfam:NAD_binding_8
|
193 |
249 |
5.5e-8 |
PFAM |
|
Pfam:DHO_dh
|
532 |
838 |
8.1e-36 |
PFAM |
|
Pfam:Dus
|
617 |
822 |
7.5e-8 |
PFAM |
|
Pfam:Fer4_10
|
945 |
997 |
7.4e-9 |
PFAM |
|
Pfam:Fer4_21
|
946 |
1004 |
1.3e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
G |
T |
8: 25,205,135 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,621,018 (GRCm39) |
N3911S |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,059,702 (GRCm39) |
Q585* |
probably null |
Het |
| Amtn |
A |
G |
5: 88,525,944 (GRCm39) |
Q36R |
probably benign |
Het |
| Arg2 |
G |
A |
12: 79,196,665 (GRCm39) |
G129S |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,094,301 (GRCm39) |
Y948D |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,138,304 (GRCm39) |
V1195A |
probably benign |
Het |
| Bet1l |
G |
T |
7: 140,434,523 (GRCm39) |
T42K |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,569,462 (GRCm39) |
T875I |
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,454,033 (GRCm39) |
|
probably null |
Het |
| Crebrf |
A |
G |
17: 26,990,293 (GRCm39) |
E612G |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,632,119 (GRCm39) |
M83K |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,771,204 (GRCm39) |
S414P |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,546,551 (GRCm39) |
H411N |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,198,276 (GRCm39) |
M74L |
probably damaging |
Het |
| Edn1 |
C |
A |
13: 42,458,499 (GRCm39) |
T104K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,727 (GRCm39) |
T116S |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,343,190 (GRCm39) |
|
probably null |
Het |
| Fpgt |
C |
T |
3: 154,792,759 (GRCm39) |
G423R |
probably damaging |
Het |
| Gprc5b |
A |
T |
7: 118,583,416 (GRCm39) |
V151E |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,685,278 (GRCm39) |
Y465C |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,323,022 (GRCm39) |
K308R |
possibly damaging |
Het |
| Lrch1 |
A |
T |
14: 75,073,202 (GRCm39) |
S146T |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,078,221 (GRCm39) |
K16R |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Or2t1 |
G |
A |
14: 14,328,851 (GRCm38) |
V247I |
probably damaging |
Het |
| Or2y1f |
T |
A |
11: 49,184,988 (GRCm39) |
I280N |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,030 (GRCm39) |
V252A |
probably damaging |
Het |
| Or5b95 |
G |
A |
19: 12,658,287 (GRCm39) |
V272M |
possibly damaging |
Het |
| Or5t15 |
A |
C |
2: 86,681,958 (GRCm39) |
L28R |
possibly damaging |
Het |
| Or5w15 |
A |
T |
2: 87,568,462 (GRCm39) |
S69T |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,884 (GRCm39) |
M355K |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,428 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,745,095 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
G |
T |
2: 29,975,257 (GRCm39) |
R506L |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,620 (GRCm39) |
Y100H |
probably damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,918 (GRCm39) |
Q56K |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,133,407 (GRCm39) |
C229* |
probably null |
Het |
| Sema3a |
G |
A |
5: 13,649,456 (GRCm39) |
R735Q |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,557 (GRCm39) |
*460W |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 96,993,748 (GRCm39) |
|
probably benign |
Het |
| Slu7 |
T |
A |
11: 43,333,457 (GRCm39) |
V359D |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,662,049 (GRCm39) |
Y794C |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,769 (GRCm39) |
N70S |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,195 (GRCm39) |
D245V |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,237 (GRCm39) |
H181R |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,421,139 (GRCm39) |
S38P |
probably damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,450,609 (GRCm39) |
S519P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,369,362 (GRCm39) |
K253E |
possibly damaging |
Het |
|
| Other mutations in Dpyd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Dpyd
|
APN |
3 |
118,737,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00508:Dpyd
|
APN |
3 |
118,858,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02113:Dpyd
|
APN |
3 |
118,792,868 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02177:Dpyd
|
APN |
3 |
118,858,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03001:Dpyd
|
APN |
3 |
118,710,891 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03399:Dpyd
|
APN |
3 |
119,108,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
F5770:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
F6893:Dpyd
|
UTSW |
3 |
118,597,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Dpyd
|
UTSW |
3 |
118,935,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Dpyd
|
UTSW |
3 |
118,737,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Dpyd
|
UTSW |
3 |
118,710,921 (GRCm39) |
missense |
probably benign |
|
|
R0349:Dpyd
|
UTSW |
3 |
118,710,748 (GRCm39) |
nonsense |
probably null |
|
|
R0387:Dpyd
|
UTSW |
3 |
119,220,875 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0523:Dpyd
|
UTSW |
3 |
118,692,852 (GRCm39) |
missense |
probably benign |
|
|
R0555:Dpyd
|
UTSW |
3 |
119,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Dpyd
|
UTSW |
3 |
119,220,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Dpyd
|
UTSW |
3 |
118,468,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1313:Dpyd
|
UTSW |
3 |
118,692,810 (GRCm39) |
splice site |
probably benign |
|
|
R1554:Dpyd
|
UTSW |
3 |
118,858,695 (GRCm39) |
splice site |
probably null |
|
|
R1610:Dpyd
|
UTSW |
3 |
118,858,655 (GRCm39) |
missense |
probably benign |
|
|
R1710:Dpyd
|
UTSW |
3 |
118,404,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Dpyd
|
UTSW |
3 |
118,710,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Dpyd
|
UTSW |
3 |
118,858,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2130:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
|
R2131:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
|
R2882:Dpyd
|
UTSW |
3 |
118,858,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3771:Dpyd
|
UTSW |
3 |
119,205,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,690,737 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4030:Dpyd
|
UTSW |
3 |
118,690,815 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4065:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4066:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4234:Dpyd
|
UTSW |
3 |
119,225,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Dpyd
|
UTSW |
3 |
118,591,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4638:Dpyd
|
UTSW |
3 |
119,059,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4980:Dpyd
|
UTSW |
3 |
118,710,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Dpyd
|
UTSW |
3 |
118,591,071 (GRCm39) |
nonsense |
probably null |
|
|
R5348:Dpyd
|
UTSW |
3 |
118,575,592 (GRCm39) |
missense |
probably benign |
|
|
R5587:Dpyd
|
UTSW |
3 |
118,858,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Dpyd
|
UTSW |
3 |
118,987,942 (GRCm39) |
missense |
probably benign |
|
|
R5665:Dpyd
|
UTSW |
3 |
118,710,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Dpyd
|
UTSW |
3 |
118,692,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Dpyd
|
UTSW |
3 |
119,220,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6046:Dpyd
|
UTSW |
3 |
119,225,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6404:Dpyd
|
UTSW |
3 |
119,059,606 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6703:Dpyd
|
UTSW |
3 |
118,690,849 (GRCm39) |
splice site |
probably null |
|
|
R7037:Dpyd
|
UTSW |
3 |
118,692,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7215:Dpyd
|
UTSW |
3 |
119,059,681 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7301:Dpyd
|
UTSW |
3 |
118,692,933 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7336:Dpyd
|
UTSW |
3 |
118,858,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Dpyd
|
UTSW |
3 |
118,597,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8238:Dpyd
|
UTSW |
3 |
118,988,842 (GRCm39) |
splice site |
probably null |
|
|
R8306:Dpyd
|
UTSW |
3 |
119,205,822 (GRCm39) |
missense |
probably benign |
|
|
R8315:Dpyd
|
UTSW |
3 |
119,108,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8321:Dpyd
|
UTSW |
3 |
118,575,573 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8342:Dpyd
|
UTSW |
3 |
119,108,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8735:Dpyd
|
UTSW |
3 |
118,935,565 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8750:Dpyd
|
UTSW |
3 |
118,935,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Dpyd
|
UTSW |
3 |
118,792,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Dpyd
|
UTSW |
3 |
118,404,167 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8973:Dpyd
|
UTSW |
3 |
119,108,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9070:Dpyd
|
UTSW |
3 |
118,792,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9132:Dpyd
|
UTSW |
3 |
118,710,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Dpyd
|
UTSW |
3 |
118,553,303 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9260:Dpyd
|
UTSW |
3 |
119,108,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9307:Dpyd
|
UTSW |
3 |
119,108,560 (GRCm39) |
missense |
probably benign |
|
|
V7581:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
V7582:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
V7583:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation