Incidental Mutation 'R3406:Dhodh'
ID 259387
Institutional Source Beutler Lab
Gene Symbol Dhodh
Ensembl Gene ENSMUSG00000031730
Gene Name dihydroorotate dehydrogenase
Synonyms 2810417D19Rik
MMRRC Submission 040624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3406 (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*

DomainStartEndE-ValueType
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*

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: R47*
SMART Domains Protein: ENSMUSP00000118612
Gene: ENSMUSG00000031730
AA Change: R47*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

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: R86*
SMART Domains Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730
AA Change: R86*

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:DHO_dh 75 162 7.2e-32 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,859,338 (GRCm39) M1K probably null Het
Adam34l A T 8: 44,079,089 (GRCm39) C378* probably null Het
Bdkrb2 T C 12: 105,558,755 (GRCm39) V332A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Chd4 C A 6: 125,098,970 (GRCm39) T1586K probably benign Het
Cnga3 A G 1: 37,301,146 (GRCm39) E622G probably benign Het
Dbh A G 2: 27,064,977 (GRCm39) D396G possibly damaging Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Esp4 T A 17: 40,913,336 (GRCm39) L68M possibly damaging Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fbxo38 T C 18: 62,647,914 (GRCm39) T875A probably damaging Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hmcn2 C T 2: 31,323,284 (GRCm39) probably benign Het
Hook2 A G 8: 85,720,613 (GRCm39) probably benign Het
Irx3 A G 8: 92,525,555 (GRCm39) S507P unknown Het
Kazn C A 4: 141,966,506 (GRCm39) probably benign 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
Lyst T A 13: 13,809,815 (GRCm39) M495K possibly damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F 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
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncdn C T 4: 126,642,388 (GRCm39) R423Q probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nek8 G T 11: 78,061,572 (GRCm39) S319* probably null Het
Or11g7 G A 14: 50,690,653 (GRCm39) C48Y probably benign Het
Or52m2 T C 7: 102,263,993 (GRCm39) M68V possibly damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pcdhb15 C A 18: 37,608,442 (GRCm39) A558E probably benign Het
Plrg1 T A 3: 82,978,526 (GRCm39) W431R probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Siah3 A G 14: 75,763,421 (GRCm39) D224G probably damaging Het
Slc22a6 T C 19: 8,598,675 (GRCm39) L244P probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Tbck T A 3: 132,432,845 (GRCm39) N418K probably benign Het
Tcp11x2 T C X: 134,555,733 (GRCm39) N474S probably damaging Het
Tenm3 A C 8: 48,681,590 (GRCm39) V2680G probably damaging Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Tlr6 C T 5: 65,110,772 (GRCm39) V712M probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Znrf2 A T 6: 54,861,776 (GRCm39) N229I probably damaging Het
Other mutations in Dhodh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CATCAGAGATCCCAGCAGAG -3'
(R):5'- TCAGAGTGTCCTTCCCCTAG -3'

Sequencing Primer
(F):5'- ATAGCTCTGTGACGCTAAGC -3'
(R):5'- CCTAGAAGATCCTTATTCTGGGGGAC -3'
Posted On 2015-01-23