Incidental Mutation 'R5826:Ddah2'
| ID |
450197 |
| 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 |
043217-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R5826 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35278011-35281071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35279664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 128
(D128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007255]
[ENSMUST00000007257]
[ENSMUST00000097337]
[ENSMUST00000173207]
[ENSMUST00000173520]
[ENSMUST00000174493]
[ENSMUST00000174190]
|
| AlphaFold |
Q99LD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007255
AA Change: D128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039
AA Change: D128G
| 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 damaging
Transcript: ENSMUST00000173520
AA Change: D128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039
AA Change: D128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidinotransf
|
28 |
157 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173562
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174493
AA Change: D128G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039
AA Change: D128G
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
| Asb18 |
A |
C |
1: 89,942,260 (GRCm39) |
S14A |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
| Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
| Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
| Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
| Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
| Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
| Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
| Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,976,253 (GRCm39) |
Q345L |
probably damaging |
Het |
| Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
| Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,287,309 (GRCm39) |
N8I |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
| Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
| Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
| Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
| Ubxn4 |
A |
C |
1: 128,194,058 (GRCm39) |
K284T |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,509,785 (GRCm39) |
N461K |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
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 |
|
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 |
|
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'- TGTTGGAGAACAGGATTGCG -3'
(R):5'- CAGCTCCTCGATGATTGGTC -3'
Sequencing Primer
(F):5'- AACAGGATTGCGCGGGG -3'
(R):5'- ATTGGTCCACTTGGAGAGGCC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation