Incidental Mutation 'IGL01938:Smyd2'
| ID |
180737 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smyd2
|
| Ensembl Gene |
ENSMUSG00000026603 |
| Gene Name |
SET and MYND domain containing 2 |
| Synonyms |
Zmynd14, 1110020E07Rik, KMT3C |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
189612689-189654560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 189621079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027897]
|
| AlphaFold |
Q8R5A0 |
| PDB Structure |
Crystal structure of histone lysine methyltransferase SmyD2 in complex with the cofactor product AdoHcy [X-RAY DIFFRACTION]
Crystal structure of histone lysine methyltransferase SmyD2 in complex with the methyltransferase inhibitor sinefungin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027897
AA Change: V213A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: V213A
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
7 |
247 |
2.88e-2 |
SMART |
|
SCOP:d1elra_
|
344 |
411 |
8e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193794
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
probably benign |
Het |
|
| Other mutations in Smyd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Smyd2
|
APN |
1 |
189,632,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01060:Smyd2
|
APN |
1 |
189,629,667 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02113:Smyd2
|
APN |
1 |
189,614,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03075:Smyd2
|
APN |
1 |
189,621,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0739:Smyd2
|
UTSW |
1 |
189,621,059 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2108:Smyd2
|
UTSW |
1 |
189,629,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Smyd2
|
UTSW |
1 |
189,617,534 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4466:Smyd2
|
UTSW |
1 |
189,614,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4605:Smyd2
|
UTSW |
1 |
189,629,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Smyd2
|
UTSW |
1 |
189,642,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Smyd2
|
UTSW |
1 |
189,628,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Smyd2
|
UTSW |
1 |
189,614,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Smyd2
|
UTSW |
1 |
189,642,090 (GRCm39) |
nonsense |
probably null |
|
|
R5660:Smyd2
|
UTSW |
1 |
189,617,579 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6271:Smyd2
|
UTSW |
1 |
189,616,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Smyd2
|
UTSW |
1 |
189,632,288 (GRCm39) |
intron |
probably benign |
|
|
R8820:Smyd2
|
UTSW |
1 |
189,632,018 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9011:Smyd2
|
UTSW |
1 |
189,628,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9612:Smyd2
|
UTSW |
1 |
189,612,983 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation