Incidental Mutation 'R3405:Dhodh'
| ID |
259331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhodh
|
| Ensembl Gene |
ENSMUSG00000031730 |
| Gene Name |
dihydroorotate dehydrogenase |
| Synonyms |
2810417D19Rik |
| MMRRC Submission |
040623-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3405 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110319876-110335330 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 110330107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 86
(R86*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123605]
[ENSMUST00000128350]
[ENSMUST00000143900]
[ENSMUST00000150804]
|
| AlphaFold |
O35435 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069058
AA Change: R88*
|
| SMART Domains |
Protein: ENSMUSP00000070303
Gene: ENSMUSG00000031730
AA Change: R88*
| 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 |
probably null
Transcript: ENSMUST00000123605
AA Change: R88*
|
| SMART Domains |
Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: R88*
| 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: ENSMUST00000125779
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128350
AA Change: R47*
|
| SMART Domains |
Protein: ENSMUSP00000118612
Gene: ENSMUSG00000031730
AA Change: R47*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHO_dh
|
36 |
103 |
2.2e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131107
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133353
AA Change: R18*
|
| SMART Domains |
Protein: ENSMUSP00000114190
Gene: ENSMUSG00000031730
AA Change: R18*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHO_dh
|
8 |
85 |
2.6e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143900
AA Change: R88*
|
| SMART Domains |
Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730
AA Change: R88*
| 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: ENSMUST00000146064
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150804
AA Change: R86*
|
| SMART Domains |
Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730
AA Change: R86*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,039,373 (GRCm39) |
S191P |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,377,913 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
T |
2: 13,338,319 (GRCm39) |
V2350I |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Dpt |
A |
C |
1: 164,624,500 (GRCm39) |
E67A |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,166,068 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,733,536 (GRCm39) |
K787E |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,122,546 (GRCm39) |
S23P |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,693 (GRCm39) |
E131G |
unknown |
Het |
| Gm5612 |
A |
T |
9: 18,339,149 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
T |
G |
11: 4,374,302 (GRCm39) |
Q88P |
probably damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Kcne4 |
C |
T |
1: 78,795,688 (GRCm39) |
A112V |
possibly damaging |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Lrrc30 |
A |
G |
17: 67,939,175 (GRCm39) |
L135P |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,847 (GRCm39) |
V131F |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,475,668 (GRCm39) |
F809Y |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mlst8 |
A |
T |
17: 24,697,099 (GRCm39) |
M56K |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,310 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,155 (GRCm39) |
Y507C |
probably damaging |
Het |
| Myl12a |
A |
T |
17: 71,301,737 (GRCm39) |
M130K |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,770 (GRCm39) |
F396L |
probably damaging |
Het |
| Nalf2 |
A |
G |
X: 98,889,109 (GRCm39) |
I325V |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,698 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,084,707 (GRCm39) |
I291F |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,569 (GRCm39) |
Y777* |
probably null |
Het |
| Ogdh |
T |
C |
11: 6,299,462 (GRCm39) |
V776A |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Plg |
G |
T |
17: 12,622,096 (GRCm39) |
S472I |
possibly damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,191 (GRCm39) |
T397A |
probably benign |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Stap2 |
A |
T |
17: 56,304,511 (GRCm39) |
W374R |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,251,217 (GRCm39) |
V297A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,538,213 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa8 |
T |
A |
14: 79,401,660 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTCTTCCATCAGAGATCCC -3'
(R):5'- TCAGAGTGTCCTTCCCCTAG -3'
Sequencing Primer
(F):5'- ATAGCTCTGTGACGCTAAGC -3'
(R):5'- CCTAGAAGATCCTTATTCTGGGGGAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation