Mutagenetix > Incidental Mutation

Incidental Mutation 'R1196:Ddah2'

101150

Institutional Source

Beutler Lab

Gene Symbol

Ddah2

Ensembl Gene

ENSMUSG00000007039

Gene Name

DDAH family member 2, ADMA independent

Synonyms

Ddah, Clone 7u, NG30, G6a

MMRRC Submission

039268-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1196 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

35278011-35281071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35280503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 215 (D215Y)

Ref Sequence

ENSEMBL: ENSMUSP00000134072 (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: D215Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
AA Change: D215Y

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

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

SMART Domains

Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039

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: 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174493
AA Change: D215Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
AA Change: D215Y

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

Meta Mutation Damage Score

0.7776

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 94.9%
20x: 86.8%

Validation Efficiency

97% (38/39)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,383,153 (GRCm39)	I2112T	probably benign	Het
Agtpbp1	C	A	13: 59,598,132 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,890,623 (GRCm39)	M834T	probably damaging	Het
Aspg	A	G	12: 112,082,958 (GRCm39)	T213A	possibly damaging	Het
Chpf2	T	C	5: 24,794,646 (GRCm39)	V272A	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Fbrsl1	T	A	5: 110,522,385 (GRCm39)	M150L	probably benign	Het
Hmces	T	A	6: 87,913,164 (GRCm39)	D306E	probably benign	Het
Itga2	C	T	13: 115,002,691 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,075,015 (GRCm39)		probably benign	Het
Krr1	T	A	10: 111,811,562 (GRCm39)	H85Q	probably benign	Het
Krt87	C	T	15: 101,389,314 (GRCm39)	R6Q	probably benign	Het
Krtap24-1	T	C	16: 88,408,530 (GRCm39)	M199V	probably benign	Het
Krtap5-2	A	T	7: 141,728,620 (GRCm39)	C353*	probably null	Het
Myo7a	T	G	7: 97,746,880 (GRCm39)	I178L	possibly damaging	Het
Myof	G	A	19: 37,899,408 (GRCm39)	T1043I	probably damaging	Het
Noc4l	C	T	5: 110,798,450 (GRCm39)	E247K	probably damaging	Het
Notch4	T	C	17: 34,787,837 (GRCm39)	C437R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or4p19	A	T	2: 88,242,890 (GRCm39)	N37K	probably damaging	Het
Or7e168	A	G	9: 19,719,928 (GRCm39)	I105V	probably benign	Het
Pank4	T	C	4: 155,062,630 (GRCm39)	F584L	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Ranbp2	T	A	10: 58,312,875 (GRCm39)	F1198L	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Tent5c	T	C	3: 100,380,316 (GRCm39)	T147A	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Unc13a	A	G	8: 72,107,630 (GRCm39)	I554T	probably damaging	Het
Zfc3h1	A	G	10: 115,247,866 (GRCm39)	D1023G	probably damaging	Het
Zfp791	T	A	8: 85,837,583 (GRCm39)	K94*	probably null	Het

Other mutations in Ddah2

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

Predicted Primers

PCR Primer
(F):5'- GCTAAAGTGCCTGAGACGACTGTG -3'
(R):5'- AGGGTGACATCAGAGAGCTTCTGC -3'

Sequencing Primer
(F):5'- AGACGACTGTGTCTGTCAC -3'
(R):5'- GGACCCCAAGGATGTTTTGATAAC -3'

Posted On

2014-01-15