Incidental Mutation 'IGL02949:Ddah2'
ID 364886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddah2
Ensembl Gene ENSMUSG00000007039
Gene Name DDAH family member 2, ADMA independent
Synonyms Ddah, Clone 7u, NG30, G6a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02949
Quality Score
Status
Chromosome 17
Chromosomal Location 35278011-35281071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35280776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 251 (K251E)
Ref Sequence ENSEMBL: ENSMUSP00000007255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007255] [ENSMUST00000007257] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000173520] [ENSMUST00000174190] [ENSMUST00000174493]
AlphaFold Q99LD8
Predicted Effect probably damaging
Transcript: ENSMUST00000007255
AA Change: K251E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
AA Change: K251E

DomainStartEndE-ValueType
PDB:2JAJ|B 1 282 1e-77 PDB
SCOP:d1h70a_ 13 277 1e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000007257
SMART Domains Protein: ENSMUSP00000007257
Gene: ENSMUSG00000007041

DomainStartEndE-ValueType
Pfam:GST_N_3 21 92 4.8e-11 PFAM
Pfam:GST_N_2 23 87 3.3e-10 PFAM
Pfam:GST_C_2 123 212 3.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097337
SMART Domains Protein: ENSMUSP00000094950
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173207
SMART Domains Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Blast:LU 48 136 3e-57 BLAST
low complexity region 139 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173520
SMART Domains Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039

DomainStartEndE-ValueType
Pfam:Amidinotransf 28 157 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173562
Predicted Effect probably benign
Transcript: ENSMUST00000174190
SMART Domains Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
low complexity region 168 180 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174493
AA Change: E242G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
AA Change: E242G

DomainStartEndE-ValueType
Pfam:Amidinotransf 30 232 5e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice exhibit normal embryonic survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abhd5 T C 9: 122,206,980 (GRCm39) F89L possibly damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
B4galt2 C T 4: 117,738,602 (GRCm39) A72T probably benign Het
Ccdc141 T C 2: 76,857,938 (GRCm39) Y1081C probably damaging Het
Coq8b T C 7: 26,956,038 (GRCm39) V405A possibly damaging Het
Dnah5 T C 15: 28,272,331 (GRCm39) V1045A probably benign Het
Dpy19l1 A T 9: 24,332,476 (GRCm39) M662K probably benign Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
H2-D1 A G 17: 35,483,064 (GRCm39) N198S probably benign Het
Hnrnpa1 T C 15: 103,150,538 (GRCm39) V163A probably damaging Het
Hr C T 14: 70,797,225 (GRCm39) R543C possibly damaging Het
Lct C T 1: 128,240,869 (GRCm39) V245M probably benign Het
Lpl G A 8: 69,345,400 (GRCm39) V135M probably damaging Het
Mblac1 T A 5: 138,193,119 (GRCm39) C154S probably benign Het
Mmp9 T C 2: 164,793,039 (GRCm39) F396S probably damaging Het
Mroh1 A T 15: 76,293,168 (GRCm39) H314L probably damaging Het
Msantd4 T A 9: 4,385,196 (GRCm39) L307Q probably damaging Het
Nol8 A G 13: 49,815,878 (GRCm39) D662G probably benign Het
Nynrin G A 14: 56,109,837 (GRCm39) S1648N probably damaging Het
Or52a20 A G 7: 103,366,427 (GRCm39) I209V probably benign Het
Plcb2 C T 2: 118,549,590 (GRCm39) probably null Het
Scyl2 T A 10: 89,496,163 (GRCm39) N229I possibly damaging Het
Spryd3 C T 15: 102,026,544 (GRCm39) E376K probably benign Het
Srr T G 11: 74,799,563 (GRCm39) E304A probably benign Het
Srsf1 A G 11: 87,940,352 (GRCm39) probably benign Het
Txnrd2 T G 16: 18,296,456 (GRCm39) S473A probably benign Het
Wdr18 T A 10: 79,800,889 (GRCm39) C151S probably benign Het
Zfp282 C T 6: 47,874,848 (GRCm39) T351I probably damaging Het
Other mutations in Ddah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Ddah2 APN 17 35,279,607 (GRCm39) missense possibly damaging 0.89
IGL02704:Ddah2 APN 17 35,279,983 (GRCm39) missense possibly damaging 0.94
R1196:Ddah2 UTSW 17 35,280,503 (GRCm39) missense probably damaging 1.00
R1875:Ddah2 UTSW 17 35,279,821 (GRCm39) missense probably damaging 1.00
R2018:Ddah2 UTSW 17 35,279,402 (GRCm39) missense possibly damaging 0.57
R2225:Ddah2 UTSW 17 35,279,187 (GRCm39) missense probably damaging 1.00
R2245:Ddah2 UTSW 17 35,280,561 (GRCm39) missense probably damaging 1.00
R5826:Ddah2 UTSW 17 35,279,664 (GRCm39) missense probably damaging 1.00
R7652:Ddah2 UTSW 17 35,280,026 (GRCm39) missense possibly damaging 0.91
X0018:Ddah2 UTSW 17 35,279,643 (GRCm39) missense probably benign 0.07
Posted On 2015-12-18