Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00548:Ddah2'

12571

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 #

IGL00548

Quality Score

Status

Chromosome

Chromosomal Location

35278011-35281071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35279607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 109 (D109G)

Ref Sequence

ENSEMBL: ENSMUSP00000007255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007255] [ENSMUST00000007257] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000173520] [ENSMUST00000174493] [ENSMUST00000174190]

AlphaFold

Q99LD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007255
AA Change: D109G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
AA Change: D109G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	20	121	3.27e0	SMART
low complexity region	145	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172599

Predicted Effect

probably benign
Transcript: ENSMUST00000173207

SMART Domains

Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586

Domain	Start	End	E-Value	Type
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
AA Change: D109G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039
AA Change: D109G

Domain	Start	End	E-Value	Type
Pfam:Amidinotransf	28	157	1.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173562

Predicted Effect

probably benign
Transcript: ENSMUST00000174493
AA Change: D109G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
AA Change: D109G

Domain	Start	End	E-Value	Type
Pfam:Amidinotransf	30	232	5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174190

SMART Domains

Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414

Domain	Start	End	E-Value	Type
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

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 110,976,081 (GRCm39)	Y146C	probably damaging	Het
Dctn5	T	A	7: 121,743,019 (GRCm39)	C120*	probably null	Het
Dgke	G	A	11: 88,946,197 (GRCm39)	T201I	probably benign	Het
Elmo1	A	G	13: 20,445,749 (GRCm39)	I146V	probably benign	Het
Fam98a	T	C	17: 75,845,813 (GRCm39)	E311G	probably damaging	Het
Herc2	T	A	7: 55,856,313 (GRCm39)	M3881K	probably benign	Het
Mroh2b	A	G	15: 4,960,798 (GRCm39)	K787E	probably benign	Het
Neb	A	G	2: 52,133,984 (GRCm39)	V3333A	probably benign	Het
Prkch	C	A	12: 73,749,585 (GRCm39)	Q393K	probably damaging	Het
Rfx3	A	G	19: 27,783,586 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,004,565 (GRCm39)	T1281A	probably benign	Het
Usp24	A	G	4: 106,198,495 (GRCm39)	T134A	probably damaging	Het

Other mutations in Ddah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02704:Ddah2	APN	17	35,279,983 (GRCm39)	missense	possibly damaging	0.94
IGL02949:Ddah2	APN	17	35,280,776 (GRCm39)	missense	probably damaging	0.97
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

2012-12-06