Incidental Mutation 'IGL02901:Smyd1'
| ID |
363602 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smyd1
|
| Ensembl Gene |
ENSMUSG00000055027 |
| Gene Name |
SET and MYND domain containing 1 |
| Synonyms |
Bop, 4632404M21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71190924-71239265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71215614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074301]
[ENSMUST00000114186]
[ENSMUST00000114188]
|
| AlphaFold |
P97443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074301
AA Change: V149A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073911
Gene: ENSMUSG00000055027
AA Change: V149A
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
7 |
259 |
2.79e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114186
AA Change: V149A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109824
Gene: ENSMUSG00000055027
AA Change: V149A
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
7 |
246 |
2.45e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114188
AA Change: V115A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
18 |
56 |
5.4e-11 |
PFAM |
|
SET
|
76 |
225 |
1.53e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at E10.5. Mutant embryos exhibit an enlarged heart and developmental abnormalities of the right ventricle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,532 (GRCm39) |
V51E |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
| Cox6a2 |
A |
C |
7: 127,805,454 (GRCm39) |
L5R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
| Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,627,964 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
| Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
| Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
| Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,959,138 (GRCm39) |
S10P |
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
| Zkscan16 |
T |
C |
4: 58,946,283 (GRCm39) |
W53R |
probably damaging |
Het |
|
| Other mutations in Smyd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02869:Smyd1
|
APN |
6 |
71,198,007 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4498001:Smyd1
|
UTSW |
6 |
71,196,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0134:Smyd1
|
UTSW |
6 |
71,193,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Smyd1
|
UTSW |
6 |
71,239,151 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1418:Smyd1
|
UTSW |
6 |
71,239,151 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1737:Smyd1
|
UTSW |
6 |
71,193,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Smyd1
|
UTSW |
6 |
71,216,563 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1978:Smyd1
|
UTSW |
6 |
71,289,703 (GRCm39) |
splice site |
probably null |
|
|
R2281:Smyd1
|
UTSW |
6 |
71,215,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Smyd1
|
UTSW |
6 |
71,216,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Smyd1
|
UTSW |
6 |
71,196,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5395:Smyd1
|
UTSW |
6 |
71,196,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5589:Smyd1
|
UTSW |
6 |
71,239,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Smyd1
|
UTSW |
6 |
71,216,705 (GRCm39) |
missense |
probably benign |
|
|
R6572:Smyd1
|
UTSW |
6 |
71,202,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Smyd1
|
UTSW |
6 |
71,215,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Smyd1
|
UTSW |
6 |
71,214,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8478:Smyd1
|
UTSW |
6 |
71,193,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Smyd1
|
UTSW |
6 |
71,193,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8816:Smyd1
|
UTSW |
6 |
71,192,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9484:Smyd1
|
UTSW |
6 |
71,202,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Smyd1
|
UTSW |
6 |
71,192,808 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation