Incidental Mutation 'R1455:Ddah1'
ID 161710
Institutional Source Beutler Lab
Gene Symbol Ddah1
Ensembl Gene ENSMUSG00000028194
Gene Name dimethylarginine dimethylaminohydrolase 1
Synonyms 2410006N07Rik, 2510015N06Rik
MMRRC Submission 039510-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R1455 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 145464447-145600032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 145594864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 208 (R208L)
Ref Sequence ENSEMBL: ENSMUSP00000029845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029845] [ENSMUST00000120310]
AlphaFold Q9CWS0
Predicted Effect probably benign
Transcript: ENSMUST00000029845
AA Change: R208L

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029845
Gene: ENSMUSG00000028194
AA Change: R208L

DomainStartEndE-ValueType
Pfam:Amidinotransf 12 279 9.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120310
AA Change: R105L

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112747
Gene: ENSMUSG00000028194
AA Change: R105L

DomainStartEndE-ValueType
Pfam:Amidinotransf 1 178 2.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127193
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous inactivation of this gene leads to increased plasma asymmetrical dimethylarginine (ADMA) levels, reduced cardiovascular nitric oxide production, and increased blood pressure. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(4) Gene trapped(3)
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,824 (GRCm39) N285D possibly damaging Het
Adam9 T G 8: 25,483,125 (GRCm39) M227L probably benign Het
Ankrd35 A G 3: 96,585,471 (GRCm39) D21G probably damaging Het
Arhgap32 C T 9: 32,171,381 (GRCm39) A1387V probably benign Het
Atg4d T A 9: 21,182,097 (GRCm39) V306E probably damaging Het
Brsk1 G A 7: 4,707,250 (GRCm39) V268M probably damaging Het
Cfap300 T G 9: 8,022,457 (GRCm39) N255T probably benign Het
Clec4a4 A G 6: 122,989,758 (GRCm39) E133G possibly damaging Het
Col24a1 T A 3: 145,166,593 (GRCm39) L1076H probably damaging Het
Dysf A G 6: 84,090,368 (GRCm39) N960S probably benign Het
Egln2 A G 7: 26,859,796 (GRCm39) Y306H probably damaging Het
Fgfr1 T C 8: 26,052,292 (GRCm39) V293A possibly damaging Het
Gja3 A G 14: 57,273,842 (GRCm39) Y177H probably damaging Het
Glul T A 1: 153,782,845 (GRCm39) probably null Het
Gprc5a G A 6: 135,056,245 (GRCm39) V231I probably benign Het
Kdm4d C A 9: 14,375,691 (GRCm39) A56S probably damaging Het
Lingo4 G A 3: 94,306,699 (GRCm39) probably benign Het
Map6 A G 7: 98,917,421 (GRCm39) T65A probably damaging Het
Mmrn2 T C 14: 34,121,089 (GRCm39) I653T probably benign Het
Ndufa12 A G 10: 94,039,176 (GRCm39) T70A probably benign Het
Nfe2l3 C A 6: 51,434,744 (GRCm39) P435T possibly damaging Het
Npc1l1 A T 11: 6,178,174 (GRCm39) V412E possibly damaging Het
Or51a39 A T 7: 102,363,205 (GRCm39) Y138* probably null Het
Or6aa1 A T 7: 86,043,803 (GRCm39) F301Y probably damaging Het
Pcnx1 T C 12: 82,020,008 (GRCm39) F1344L probably damaging Het
Pi4ka A G 16: 17,181,818 (GRCm39) V297A probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel7 T C 2: 87,320,067 (GRCm39) T409A probably benign Het
Proc C G 18: 32,256,451 (GRCm39) M405I probably damaging Het
Serinc2 C A 4: 130,158,133 (GRCm39) A105S probably damaging Het
Slc4a10 G T 2: 62,117,274 (GRCm39) K744N probably damaging Het
Spdye4c A T 2: 128,438,478 (GRCm39) I279F probably damaging Het
Srcap G T 7: 127,129,822 (GRCm39) R568L probably damaging Het
Stag3 T A 5: 138,309,997 (GRCm39) M1215K probably benign Het
Tenm3 C T 8: 48,732,083 (GRCm39) A1274T possibly damaging Het
Tet2 A G 3: 133,179,406 (GRCm39) V1253A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trip12 T C 1: 84,736,821 (GRCm39) I800V probably benign Het
Zfc3h1 T C 10: 115,248,013 (GRCm39) I1072T probably benign Het
Zfp148 T A 16: 33,315,835 (GRCm39) probably null Het
Zfp941 A G 7: 140,392,687 (GRCm39) V224A probably benign Het
Other mutations in Ddah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Ddah1 APN 3 145,464,842 (GRCm39) missense probably benign 0.44
P0014:Ddah1 UTSW 3 145,558,913 (GRCm39) missense probably benign 0.36
R1386:Ddah1 UTSW 3 145,594,966 (GRCm39) missense probably benign 0.00
R1464:Ddah1 UTSW 3 145,559,029 (GRCm39) nonsense probably null
R1464:Ddah1 UTSW 3 145,559,029 (GRCm39) nonsense probably null
R1557:Ddah1 UTSW 3 145,597,227 (GRCm39) missense probably benign 0.00
R1724:Ddah1 UTSW 3 145,597,261 (GRCm39) missense probably damaging 0.99
R1853:Ddah1 UTSW 3 145,597,304 (GRCm39) missense probably benign
R3700:Ddah1 UTSW 3 145,597,250 (GRCm39) missense probably benign
R6170:Ddah1 UTSW 3 145,597,261 (GRCm39) missense probably benign 0.06
R7603:Ddah1 UTSW 3 145,464,774 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CAAACTTCCAGCCAGATTTCTGCAC -3'
(R):5'- GCCATTCCATCATGAGAAGGTCCC -3'

Sequencing Primer
(F):5'- TCATAAGATCCCTGCTAGGTCAG -3'
(R):5'- CATCATGAGAAGGTCCCCAGAG -3'
Posted On 2014-03-14