Incidental Mutation 'IGL02044:Smyd3'
ID |
184888 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smyd3
|
Ensembl Gene |
ENSMUSG00000055067 |
Gene Name |
SET and MYND domain containing 3 |
Synonyms |
2410008A19Rik, Zmynd1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02044
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
178779525-179345606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 178799844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 365
(S365N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128302]
|
AlphaFold |
Q9CWR2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068437
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128302
AA Change: S365N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117410 Gene: ENSMUSG00000055067 AA Change: S365N
Domain | Start | End | E-Value | Type |
SET
|
4 |
246 |
1.04e-11 |
SMART |
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131684
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
Allele List at MGI |
All alleles(34) : Targeted, other(5) Gene trapped(29)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly damaging |
Het |
|
Other mutations in Smyd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03088:Smyd3
|
APN |
1 |
178,921,898 (GRCm39) |
critical splice donor site |
probably null |
|
D3080:Smyd3
|
UTSW |
1 |
178,913,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Smyd3
|
UTSW |
1 |
178,871,437 (GRCm39) |
missense |
probably benign |
|
R0230:Smyd3
|
UTSW |
1 |
179,250,993 (GRCm39) |
splice site |
probably benign |
|
R0390:Smyd3
|
UTSW |
1 |
178,785,138 (GRCm39) |
splice site |
probably benign |
|
R1651:Smyd3
|
UTSW |
1 |
178,871,441 (GRCm39) |
missense |
probably benign |
|
R4651:Smyd3
|
UTSW |
1 |
178,871,306 (GRCm39) |
missense |
probably benign |
0.08 |
R4771:Smyd3
|
UTSW |
1 |
178,921,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R5326:Smyd3
|
UTSW |
1 |
179,238,024 (GRCm39) |
missense |
probably benign |
|
R5542:Smyd3
|
UTSW |
1 |
179,238,024 (GRCm39) |
missense |
probably benign |
|
R5697:Smyd3
|
UTSW |
1 |
179,239,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Smyd3
|
UTSW |
1 |
178,871,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Smyd3
|
UTSW |
1 |
179,223,395 (GRCm39) |
missense |
probably benign |
0.01 |
R7782:Smyd3
|
UTSW |
1 |
178,799,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8065:Smyd3
|
UTSW |
1 |
179,238,028 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8067:Smyd3
|
UTSW |
1 |
179,238,028 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8236:Smyd3
|
UTSW |
1 |
179,233,205 (GRCm39) |
splice site |
probably null |
|
R8735:Smyd3
|
UTSW |
1 |
178,920,482 (GRCm39) |
missense |
probably benign |
0.12 |
R9146:Smyd3
|
UTSW |
1 |
178,920,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R9185:Smyd3
|
UTSW |
1 |
178,877,854 (GRCm39) |
critical splice donor site |
probably null |
|
R9200:Smyd3
|
UTSW |
1 |
179,232,963 (GRCm39) |
missense |
probably benign |
0.04 |
R9372:Smyd3
|
UTSW |
1 |
178,871,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0024:Smyd3
|
UTSW |
1 |
178,877,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2014-05-07 |