Incidental Mutation 'R5130:Dhodh'
ID |
394955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhodh
|
Ensembl Gene |
ENSMUSG00000031730 |
Gene Name |
dihydroorotate dehydrogenase |
Synonyms |
2810417D19Rik |
MMRRC Submission |
042718-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5130 (G1)
|
Quality Score |
160 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110319876-110335330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 110322388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 237
(L237Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123605]
[ENSMUST00000143900]
[ENSMUST00000150804]
|
AlphaFold |
O35435 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069058
AA Change: L237Q
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000070303 Gene: ENSMUSG00000031730 AA Change: L237Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DHO_dh
|
77 |
377 |
1.1e-116 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123605
AA Change: L237Q
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115934 Gene: ENSMUSG00000031730 AA Change: L237Q
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 |
possibly damaging
Transcript: ENSMUST00000143900
AA Change: L237Q
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117980 Gene: ENSMUSG00000031730 AA Change: L237Q
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 |
noncoding transcript
Transcript: ENSMUST00000142106
|
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 |
|
Meta Mutation Damage Score |
0.1024 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
96% (51/53) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
T |
C |
1: 161,780,184 (GRCm39) |
N110S |
possibly damaging |
Het |
Acss3 |
T |
C |
10: 106,840,586 (GRCm39) |
I392V |
possibly damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,633,321 (GRCm39) |
H696R |
possibly damaging |
Het |
Baiap3 |
G |
T |
17: 25,464,316 (GRCm39) |
D847E |
probably benign |
Het |
Cdc27 |
T |
C |
11: 104,425,600 (GRCm39) |
K72R |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,254,944 (GRCm39) |
E137G |
probably benign |
Het |
Dscam |
A |
T |
16: 96,620,979 (GRCm39) |
N576K |
probably benign |
Het |
Eng |
A |
G |
2: 32,571,518 (GRCm39) |
N636S |
probably damaging |
Het |
Ephx2 |
A |
T |
14: 66,345,511 (GRCm39) |
I151K |
probably damaging |
Het |
Fahd1 |
A |
G |
17: 25,068,733 (GRCm39) |
C115R |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,891,386 (GRCm39) |
I143F |
possibly damaging |
Het |
Iqgap3 |
C |
A |
3: 88,016,161 (GRCm39) |
N981K |
probably damaging |
Het |
Kcna5 |
T |
C |
6: 126,511,496 (GRCm39) |
I211V |
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,506,495 (GRCm39) |
V14E |
possibly damaging |
Het |
Mlh1 |
A |
G |
9: 111,058,906 (GRCm39) |
|
probably null |
Het |
Mylk |
A |
G |
16: 34,809,367 (GRCm39) |
K1775E |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,021,769 (GRCm39) |
D541G |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,146,887 (GRCm39) |
M1233K |
possibly damaging |
Het |
Nf2 |
A |
T |
11: 4,779,862 (GRCm39) |
|
probably benign |
Het |
Nova2 |
C |
T |
7: 18,660,069 (GRCm39) |
T22I |
unknown |
Het |
Or3a1d |
A |
T |
11: 74,237,993 (GRCm39) |
M19K |
probably damaging |
Het |
Or7g28 |
T |
A |
9: 19,272,369 (GRCm39) |
Y94F |
possibly damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
Pcdha2 |
A |
T |
18: 37,073,722 (GRCm39) |
N451I |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,568,877 (GRCm39) |
F8I |
probably benign |
Het |
Pdzph1 |
A |
C |
17: 59,229,604 (GRCm39) |
L1018W |
probably damaging |
Het |
Prdm9 |
T |
C |
17: 15,764,729 (GRCm39) |
R684G |
probably benign |
Het |
Rabep1 |
T |
A |
11: 70,795,557 (GRCm39) |
V261E |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,374,548 (GRCm39) |
D904E |
possibly damaging |
Het |
Siah3 |
A |
T |
14: 75,763,381 (GRCm39) |
K211* |
probably null |
Het |
Slc5a8 |
T |
A |
10: 88,762,077 (GRCm39) |
N572K |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
Sowahb |
T |
A |
5: 93,190,630 (GRCm39) |
K696N |
possibly damaging |
Het |
St7l |
A |
T |
3: 104,803,080 (GRCm39) |
H330L |
probably damaging |
Het |
Tnrc6c |
T |
A |
11: 117,629,176 (GRCm39) |
|
probably null |
Het |
Ttc28 |
G |
T |
5: 111,040,722 (GRCm39) |
V37F |
probably benign |
Het |
Uaca |
C |
A |
9: 60,787,510 (GRCm39) |
Q1409K |
probably damaging |
Het |
V1rd19 |
T |
A |
7: 23,702,537 (GRCm39) |
M1K |
probably null |
Het |
Vmn1r225 |
A |
G |
17: 20,723,047 (GRCm39) |
R163G |
possibly damaging |
Het |
Wdr87-ps |
T |
C |
7: 29,228,699 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h3 |
C |
A |
15: 75,651,139 (GRCm39) |
V694L |
probably damaging |
Het |
Zfp442 |
G |
T |
2: 150,251,530 (GRCm39) |
T123K |
possibly damaging |
Het |
Zmym1 |
A |
T |
4: 126,942,451 (GRCm39) |
S646T |
probably damaging |
Het |
|
Other mutations in Dhodh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02386:Dhodh
|
APN |
8 |
110,321,396 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTATCCCAGCAGGCAATAGAC -3'
(R):5'- ATGTTCCTTTGCCAGCCTAG -3'
Sequencing Primer
(F):5'- TAGACAATGAAAGCCGCCCCTG -3'
(R):5'- TACCTTTTCAGGACCACTAAGGAG -3'
|
Posted On |
2016-06-21 |