Incidental Mutation 'IGL02826:Setd3'
| ID |
361236 |
| 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 # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 108078383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071095]
[ENSMUST00000109879]
[ENSMUST00000132682]
[ENSMUST00000147466]
|
| AlphaFold |
Q91WC0 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000109879
|
| SMART Domains |
Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125210
|
| 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: ENSMUST00000148119
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
| Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
| Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
| Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
| Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
| Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
| Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably 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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation