Incidental Mutation 'IGL02514:Dhodh'
ID 296694
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 # IGL02514
Quality Score
Status
Chromosome 8
Chromosomal Location 110319876-110335330 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 110332896 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O35435
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: 138,779,909 (GRCm39) C114* probably null Het
4933421I07Rik A G 7: 42,096,981 (GRCm39) M110T probably damaging Het
Amer1 A G X: 94,470,117 (GRCm39) V667A possibly damaging Het
Casr C T 16: 36,320,687 (GRCm39) G487E probably damaging Het
Catsperd G A 17: 56,968,271 (GRCm39) G552D probably damaging Het
Ceacam3 A G 7: 16,896,906 (GRCm39) D624G possibly damaging Het
Celsr2 A G 3: 108,304,826 (GRCm39) V2208A probably benign Het
Cibar1 T G 4: 12,164,080 (GRCm39) probably benign Het
Clca4a G A 3: 144,660,832 (GRCm39) S664F probably damaging Het
Ddx23 A T 15: 98,556,199 (GRCm39) S40T unknown Het
Dhx36 A G 3: 62,408,319 (GRCm39) L173S possibly damaging Het
Dnaaf5 C T 5: 139,159,872 (GRCm39) probably benign Het
Dnah3 T C 7: 119,565,470 (GRCm39) D2546G probably damaging Het
Eef2 T G 10: 81,015,427 (GRCm39) I316S probably benign Het
Efcab6 T C 15: 83,917,143 (GRCm39) D139G possibly damaging Het
Efcab6 A T 15: 83,755,512 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,853,505 (GRCm39) I357N possibly damaging Het
Elovl2 G A 13: 41,348,247 (GRCm39) T44M probably benign Het
Fbln1 T A 15: 85,128,463 (GRCm39) C553* probably null Het
Fip1l1 T C 5: 74,731,813 (GRCm39) V310A probably damaging Het
Gast A G 11: 100,227,718 (GRCm39) D100G probably benign Het
Gk G A X: 84,756,970 (GRCm39) probably benign Het
Gm1330 G A 2: 148,841,305 (GRCm39) probably benign Het
Hspg2 C A 4: 137,296,887 (GRCm39) T4355K probably benign Het
Ipo7 T C 7: 109,648,035 (GRCm39) V639A possibly damaging Het
Lrrc7 T C 3: 157,865,929 (GRCm39) M1271V probably damaging Het
Msantd1 T A 5: 35,078,887 (GRCm39) S141T probably damaging Het
Myo9b T C 8: 71,743,650 (GRCm39) I237T probably damaging Het
Or10ag59 G A 2: 87,405,537 (GRCm39) M36I probably benign Het
Or13a21 A T 7: 139,999,507 (GRCm39) Y60N probably damaging Het
Or2w3 T C 11: 58,556,469 (GRCm39) F28S probably damaging Het
Or4k40 A C 2: 111,251,117 (GRCm39) Y60D probably damaging Het
Pan2 A T 10: 128,146,610 (GRCm39) M416L possibly damaging Het
Pank4 T C 4: 155,054,922 (GRCm39) F209L probably damaging Het
Pcdhb13 A T 18: 37,576,044 (GRCm39) I141L possibly damaging Het
Pik3r2 A G 8: 71,223,236 (GRCm39) Y422H probably benign Het
Pramel14 T C 4: 143,719,772 (GRCm39) K198E probably benign Het
Prdm4 A T 10: 85,743,781 (GRCm39) I158N probably damaging Het
Prl T G 13: 27,243,377 (GRCm39) L14R probably damaging Het
Rabl6 C A 2: 25,498,188 (GRCm39) A23S probably damaging Het
Rbm15b T A 9: 106,762,176 (GRCm39) H664L probably damaging Het
Rhobtb1 T A 10: 69,125,471 (GRCm39) H618Q probably benign Het
Slc15a1 T C 14: 121,724,452 (GRCm39) K140R probably damaging Het
Slc6a17 A G 3: 107,402,993 (GRCm39) S145P possibly damaging Het
Snx31 T C 15: 36,525,728 (GRCm39) T324A probably damaging Het
Spatc1l T C 10: 76,405,490 (GRCm39) probably benign Het
Taar7b A G 10: 23,876,882 (GRCm39) N349S probably benign Het
Tbx19 T C 1: 164,981,273 (GRCm39) I74V probably benign Het
Tmtc2 G A 10: 105,025,960 (GRCm39) T836I possibly damaging Het
Vmn2r72 C A 7: 85,387,907 (GRCm39) M552I possibly damaging Het
Vsig10l A G 7: 43,113,338 (GRCm39) T199A probably benign Het
Washc4 A T 10: 83,405,947 (GRCm39) E481V probably damaging Het
Zc3h15 T A 2: 83,483,725 (GRCm39) N33K probably damaging Het
Other mutations in Dhodh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02386:Dhodh APN 8 110,321,396 (GRCm39) missense probably damaging 1.00
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