Incidental Mutation 'R4605:Smyd2'
ID |
345956 |
Institutional Source |
Beutler Lab
|
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 # |
R4605 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
189612689-189654560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 189629623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 136
(S136P)
|
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 damaging
Transcript: ENSMUST00000027897
AA Change: S136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027897 Gene: ENSMUSG00000026603 AA Change: S136P
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
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 |
IGL01060:Smyd2
|
APN |
1 |
189,629,667 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTAGCGTGTCCTGACAGACTTG -3'
(R):5'- AAAATAAGCCCTTTGGATCTGGAG -3'
Sequencing Primer
(F):5'- TGACAGACTTGTACACTCGGG -3'
(R):5'- CAAGTGTGGACTCCTCAAGTAG -3'
|
Posted On |
2015-09-25 |