Incidental Mutation 'IGL02514:Dhodh'
ID296694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhodh
Ensembl Gene ENSMUSG00000031730
Gene Namedihydroorotate dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02514
Quality Score
Status
Chromosome8
Chromosomal Location109591343-109608673 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 109606264 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 58 (R58*)
Ref Sequence ENSEMBL: ENSMUSP00000115549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000128350] [ENSMUST00000143900] [ENSMUST00000150804]
Predicted Effect probably null
Transcript: ENSMUST00000123605
AA Change: R60*
SMART Domains Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: R60*

DomainStartEndE-ValueType
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: R19*
SMART Domains Protein: ENSMUSP00000118612
Gene: ENSMUSG00000031730
AA Change: R19*

DomainStartEndE-ValueType
Pfam:DHO_dh 36 103 2.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131107
Predicted Effect probably benign
Transcript: ENSMUST00000133353
SMART Domains Protein: ENSMUSP00000114190
Gene: ENSMUSG00000031730

DomainStartEndE-ValueType
Pfam:DHO_dh 8 85 2.6e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000143900
AA Change: R60*
SMART Domains Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730
AA Change: R60*

DomainStartEndE-ValueType
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: R58*
SMART Domains Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730
AA Change: R58*

DomainStartEndE-ValueType
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Efcab6 A T 15: 83,871,311 probably benign Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Pramef17 T C 4: 143,993,202 K198E probably benign Het
Prdm4 A T 10: 85,907,917 I158N probably damaging Het
Prl T G 13: 27,059,394 L14R probably damaging Het
Rabl6 C A 2: 25,608,176 A23S probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Washc4 A T 10: 83,570,083 E481V probably damaging Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging Het
Other mutations in Dhodh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Dhodh APN 8 109594764 missense probably damaging 1.00
R2268:Dhodh UTSW 8 109594674 missense possibly damaging 0.94
R3405:Dhodh UTSW 8 109603475 nonsense probably null
R3406:Dhodh UTSW 8 109603475 nonsense probably null
R3875:Dhodh UTSW 8 109594960 missense probably null 0.01
R4694:Dhodh UTSW 8 109606416 missense probably damaging 1.00
R4709:Dhodh UTSW 8 109601538 splice site probably null
R5130:Dhodh UTSW 8 109595756 missense possibly damaging 0.75
R5215:Dhodh UTSW 8 109606343 unclassified probably benign
R5880:Dhodh UTSW 8 109594777 missense probably benign
R8120:Dhodh UTSW 8 109601425 missense probably benign 0.05
R8359:Dhodh UTSW 8 109606406 missense probably benign 0.04
Posted On2015-04-16