Incidental Mutation 'IGL03039:Setd3'
| ID |
408840 |
| 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 # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 108129229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071095]
[ENSMUST00000109879]
[ENSMUST00000125916]
[ENSMUST00000132682]
[ENSMUST00000147466]
|
| AlphaFold |
Q91WC0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071095
|
| SMART Domains |
Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
| 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 null
Transcript: ENSMUST00000109879
|
| SMART Domains |
Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
probably null
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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,867 (GRCm39) |
K148E |
probably damaging |
Het |
| Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
| Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,467 (GRCm39) |
D22G |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,184 (GRCm38) |
M276K |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,981,847 (GRCm39) |
V272A |
probably benign |
Het |
| Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
| Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
| Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
| Wdfy2 |
T |
C |
14: 63,186,169 (GRCm39) |
V268A |
probably benign |
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 |
|
IGL01365:Setd3
|
APN |
12 |
108,124,165 (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 |
|
|
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 |
2016-08-02 |
Incidental Mutation