Incidental Mutation 'IGL01060:Smyd2'
| ID |
50164 |
| 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 # |
IGL01060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
189612689-189654560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 189629667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 121
(E121G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000027897
AA Change: E121G
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: E121G
| 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: ENSMUST00000144452
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
| Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
| Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
| Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
| Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
| Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
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 |
|
IGL01938:Smyd2
|
APN |
1 |
189,621,079 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2013-06-21 |
Incidental Mutation