Incidental Mutation 'R7603:Ddah1'
ID 588108
Institutional Source Beutler Lab
Gene Symbol Ddah1
Ensembl Gene ENSMUSG00000028194
Gene Name dimethylarginine dimethylaminohydrolase 1
Synonyms 2410006N07Rik, 2510015N06Rik
MMRRC Submission
Accession Numbers

NCBI RefSeq: NM_026993.3; MGI: 1916469

Is this an essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R7603 (G1)
Quality Score 217.009
Status Validated
Chromosome 3
Chromosomal Location 145758675-145894277 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145759019 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
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: V53A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029845
Gene: ENSMUSG00000028194
AA Change: V53A

Pfam:Amidinotransf 12 279 9.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120310
SMART Domains Protein: ENSMUSP00000112747
Gene: ENSMUSG00000028194

Pfam:Amidinotransf 1 178 2.2e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (47/48)
MGI Phenotype Strain: 3711768; 5424370
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T C 11: 23,566,191 T709A probably benign Het
Abca6 T C 11: 110,180,258 K1536E possibly damaging Het
Abhd16a T A 17: 35,101,960 probably null Het
Actrt3 C T 3: 30,598,547 A133T probably benign Het
Adcy10 C T 1: 165,564,237 R1329W probably damaging Het
Apol7b T C 15: 77,423,456 M280V possibly damaging Het
Canx A T 11: 50,311,628 D50E probably benign Het
Csmd1 A T 8: 16,288,682 D470E probably damaging Het
Cyp2c23 C T 19: 44,014,930 D269N probably damaging Het
Epha7 C T 4: 28,871,937 S422L probably benign Het
Fastkd5 A G 2: 130,615,041 V543A possibly damaging Het
Fggy G A 4: 95,769,506 G295R probably damaging Het
Frs2 T C 10: 117,074,063 T465A probably benign Het
Glipr1 A T 10: 111,988,832 N156K probably benign Het
Gnpnat1 C T 14: 45,384,617 V40I probably benign Het
H2-Q7 T C 17: 35,439,963 L130P probably damaging Het
Herc1 T A 9: 66,451,383 L86* probably null Het
Hspg2 T C 4: 137,548,368 L2778P probably damaging Het
Hspg2 T A 4: 137,557,192 I3487N possibly damaging Het
Htra4 T G 8: 25,025,700 I441L probably benign Het
Ints7 A T 1: 191,596,224 H203L probably damaging Het
Lama2 T C 10: 27,266,680 T601A possibly damaging Het
Lin7b T C 7: 45,368,432 probably benign Het
Lmbr1l G A 15: 98,908,691 Q280* probably null Het
Lpin3 G T 2: 160,903,754 probably null Het
Map1lc3b A T 8: 121,593,529 H27L possibly damaging Het
Mfsd14a C A 3: 116,633,883 V369F probably damaging Het
Ndufa12 C T 10: 94,220,779 A123V probably benign Het
Nek9 A G 12: 85,303,514 F929L probably benign Het
Nup210 A T 6: 91,076,697 D279E probably benign Het
Olfr553 A G 7: 102,614,938 V17A probably benign Het
Parp1 T C 1: 180,600,212 probably null Het
Phc3 T C 3: 30,907,452 I944V probably damaging Het
Phf20 C T 2: 156,302,851 A793V probably benign Het
Phf21a A C 2: 92,357,007 R540S probably benign Het
Pogk A G 1: 166,401,911 C124R probably benign Het
Rif1 C T 2: 52,076,175 S93L probably damaging Het
Sele A G 1: 164,049,515 E120G probably damaging Het
Slc4a1ap T C 5: 31,546,195 L49P Het
Snap47 T C 11: 59,428,547 D255G probably damaging Het
Tcstv3 T C 13: 120,317,610 V15A probably damaging Het
Tmcc1 A T 6: 116,043,131 Y453* probably null Het
Tpsg1 G T 17: 25,373,210 G86V probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 probably benign Het
Usp20 T A 2: 31,011,474 V459E probably damaging Het
Vmn1r202 A T 13: 22,501,620 L209Q probably damaging Het
Vps13b T C 15: 35,576,439 S998P probably damaging Het
Other mutations in Ddah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Ddah1 APN 3 145759087 missense probably benign 0.44
P0014:Ddah1 UTSW 3 145853158 missense probably benign 0.36
R1386:Ddah1 UTSW 3 145889211 missense probably benign 0.00
R1455:Ddah1 UTSW 3 145889109 missense probably benign 0.29
R1464:Ddah1 UTSW 3 145853274 nonsense probably null
R1464:Ddah1 UTSW 3 145853274 nonsense probably null
R1557:Ddah1 UTSW 3 145891472 missense probably benign 0.00
R1724:Ddah1 UTSW 3 145891506 missense probably damaging 0.99
R1853:Ddah1 UTSW 3 145891549 missense probably benign
R3700:Ddah1 UTSW 3 145891495 missense probably benign
R6170:Ddah1 UTSW 3 145891506 missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24