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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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