Incidental Mutation 'IGL01365:Setd3'
| ID |
75915 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Setd3
|
| Ensembl Gene |
ENSMUSG00000056770 |
| Gene Name |
SET domain containing 3 |
| Synonyms |
D12Ertd771e, 2610102I01Rik, 2610305M23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108124165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 175
(Y175N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071095]
[ENSMUST00000109879]
[ENSMUST00000125916]
[ENSMUST00000132682]
[ENSMUST00000147466]
|
| AlphaFold |
Q91WC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071095
AA Change: Y175N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: Y175N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
314 |
2.1e-12 |
PFAM |
|
Pfam:Rubis-subs-bind
|
345 |
475 |
3.7e-31 |
PFAM |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109879
AA Change: Y175N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: Y175N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125916
|
| SMART Domains |
Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
9 |
155 |
1e-100 |
PDB |
|
Blast:SET
|
101 |
155 |
5e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132682
|
| SMART Domains |
Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
2 |
58 |
3e-30 |
PDB |
|
SCOP:d1epua_
|
50 |
79 |
6e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147466
|
| SMART Domains |
Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
2 |
58 |
3e-30 |
PDB |
|
SCOP:d1epua_
|
50 |
79 |
6e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169951
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
| Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
| Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
| Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
| Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
| Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
| Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
| Other mutations in Setd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Setd3
|
APN |
12 |
108,126,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02031:Setd3
|
APN |
12 |
108,129,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Setd3
|
APN |
12 |
108,078,383 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02878:Setd3
|
APN |
12 |
108,074,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03039:Setd3
|
APN |
12 |
108,129,229 (GRCm39) |
splice site |
probably null |
|
|
R0332:Setd3
|
UTSW |
12 |
108,073,838 (GRCm39) |
missense |
probably benign |
|
|
R1644:Setd3
|
UTSW |
12 |
108,079,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1776:Setd3
|
UTSW |
12 |
108,131,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Setd3
|
UTSW |
12 |
108,084,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Setd3
|
UTSW |
12 |
108,126,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Setd3
|
UTSW |
12 |
108,079,651 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2058:Setd3
|
UTSW |
12 |
108,073,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2206:Setd3
|
UTSW |
12 |
108,073,544 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2207:Setd3
|
UTSW |
12 |
108,073,544 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3973:Setd3
|
UTSW |
12 |
108,131,417 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3976:Setd3
|
UTSW |
12 |
108,131,417 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3978:Setd3
|
UTSW |
12 |
108,124,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4684:Setd3
|
UTSW |
12 |
108,074,949 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4965:Setd3
|
UTSW |
12 |
108,079,630 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5691:Setd3
|
UTSW |
12 |
108,126,544 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5990:Setd3
|
UTSW |
12 |
108,126,594 (GRCm39) |
missense |
probably benign |
|
|
R6198:Setd3
|
UTSW |
12 |
108,131,427 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6241:Setd3
|
UTSW |
12 |
108,124,114 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6428:Setd3
|
UTSW |
12 |
108,079,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Setd3
|
UTSW |
12 |
108,078,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Setd3
|
UTSW |
12 |
108,073,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8221:Setd3
|
UTSW |
12 |
108,073,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9585:Setd3
|
UTSW |
12 |
108,074,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0052:Setd3
|
UTSW |
12 |
108,073,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2013-10-07 |
Incidental Mutation