Incidental Mutation 'IGL02386:Dhodh'
ID |
291566 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dhodh
|
Ensembl Gene |
ENSMUSG00000031730 |
Gene Name |
dihydroorotate dehydrogenase |
Synonyms |
2810417D19Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02386
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
110319876-110335330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110321396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 330
(I330T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123605]
[ENSMUST00000143900]
[ENSMUST00000150804]
|
AlphaFold |
O35435 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123605
AA Change: I330T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115934 Gene: ENSMUSG00000031730 AA Change: I330T
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DHO_dh
|
77 |
377 |
2e-117 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133353
|
SMART Domains |
Protein: ENSMUSP00000114190 Gene: ENSMUSG00000031730
Domain | Start | End | E-Value | Type |
Pfam:DHO_dh
|
8 |
85 |
2.6e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142106
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143900
|
SMART Domains |
Protein: ENSMUSP00000117980 Gene: ENSMUSG00000031730
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DHO_dh
|
77 |
277 |
1.8e-72 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150804
|
SMART Domains |
Protein: ENSMUSP00000115549 Gene: ENSMUSG00000031730
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
Pfam:DHO_dh
|
75 |
162 |
7.2e-32 |
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 catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555F03Rik |
G |
A |
8: 49,953,472 (GRCm39) |
|
noncoding transcript |
Het |
Abhd17b |
T |
C |
19: 21,658,263 (GRCm39) |
Y167H |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,123,086 (GRCm39) |
D167G |
probably damaging |
Het |
Bpnt1 |
G |
T |
1: 185,070,372 (GRCm39) |
K21N |
probably damaging |
Het |
Cables2 |
A |
G |
2: 179,903,431 (GRCm39) |
V251A |
probably benign |
Het |
Cyp2b13 |
T |
C |
7: 25,785,438 (GRCm39) |
L269P |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,340,527 (GRCm39) |
D2311E |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,074,428 (GRCm39) |
D128G |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,410,056 (GRCm39) |
I508N |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,742,580 (GRCm39) |
|
probably null |
Het |
Fstl4 |
T |
A |
11: 52,664,698 (GRCm39) |
H9Q |
probably benign |
Het |
Glra3 |
A |
T |
8: 56,542,063 (GRCm39) |
M269L |
probably benign |
Het |
Gpatch8 |
C |
A |
11: 102,398,983 (GRCm39) |
R83L |
unknown |
Het |
Gss |
A |
G |
2: 155,415,090 (GRCm39) |
V205A |
probably benign |
Het |
Ifi30 |
A |
G |
8: 71,217,405 (GRCm39) |
|
probably benign |
Het |
Itch |
T |
A |
2: 155,044,181 (GRCm39) |
Y495* |
probably null |
Het |
Lilrb4a |
C |
T |
10: 51,367,322 (GRCm39) |
Q22* |
probably null |
Het |
Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
Myh8 |
T |
A |
11: 67,185,266 (GRCm39) |
I839N |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,724,319 (GRCm39) |
G1122E |
probably damaging |
Het |
Ntan1 |
T |
A |
16: 13,653,063 (GRCm39) |
M273K |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,656,739 (GRCm39) |
K1548R |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,469,161 (GRCm39) |
V1260A |
probably damaging |
Het |
Or4b12 |
T |
A |
2: 90,096,295 (GRCm39) |
I160F |
probably damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,888 (GRCm39) |
V245A |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,172,636 (GRCm39) |
S669G |
possibly damaging |
Het |
Ppargc1b |
T |
C |
18: 61,456,222 (GRCm39) |
D79G |
probably damaging |
Het |
Rnf103 |
A |
G |
6: 71,486,202 (GRCm39) |
T278A |
probably benign |
Het |
Slc22a4 |
C |
A |
11: 53,879,598 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,494,386 (GRCm39) |
M833K |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Susd2 |
A |
T |
10: 75,475,929 (GRCm39) |
Y357N |
probably damaging |
Het |
Syne4 |
C |
A |
7: 30,015,659 (GRCm39) |
S91Y |
possibly damaging |
Het |
Tgfbrap1 |
C |
A |
1: 43,114,981 (GRCm39) |
G40C |
probably damaging |
Het |
Tial1 |
A |
G |
7: 128,050,069 (GRCm39) |
S94P |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,301,941 (GRCm39) |
T117A |
possibly damaging |
Het |
Usp48 |
A |
C |
4: 137,331,834 (GRCm39) |
R73S |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,297,352 (GRCm39) |
D685E |
possibly damaging |
Het |
|
Other mutations in Dhodh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02514:Dhodh
|
APN |
8 |
110,332,896 (GRCm39) |
nonsense |
probably null |
|
R2268:Dhodh
|
UTSW |
8 |
110,321,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3405:Dhodh
|
UTSW |
8 |
110,330,107 (GRCm39) |
nonsense |
probably null |
|
R3406:Dhodh
|
UTSW |
8 |
110,330,107 (GRCm39) |
nonsense |
probably null |
|
R3875:Dhodh
|
UTSW |
8 |
110,321,592 (GRCm39) |
missense |
probably null |
0.01 |
R4694:Dhodh
|
UTSW |
8 |
110,333,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Dhodh
|
UTSW |
8 |
110,328,170 (GRCm39) |
splice site |
probably null |
|
R5130:Dhodh
|
UTSW |
8 |
110,322,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5215:Dhodh
|
UTSW |
8 |
110,332,975 (GRCm39) |
unclassified |
probably benign |
|
R5880:Dhodh
|
UTSW |
8 |
110,321,409 (GRCm39) |
missense |
probably benign |
|
R8120:Dhodh
|
UTSW |
8 |
110,328,057 (GRCm39) |
missense |
probably benign |
0.05 |
R8359:Dhodh
|
UTSW |
8 |
110,333,038 (GRCm39) |
missense |
probably benign |
0.04 |
R8827:Dhodh
|
UTSW |
8 |
110,334,928 (GRCm39) |
intron |
probably benign |
|
R9040:Dhodh
|
UTSW |
8 |
110,328,781 (GRCm39) |
critical splice donor site |
probably benign |
|
R9082:Dhodh
|
UTSW |
8 |
110,322,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R9531:Dhodh
|
UTSW |
8 |
110,321,623 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |