Incidental Mutation 'IGL02031:Setd3'
| ID |
184353 |
| 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 # |
IGL02031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108129289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 54
(W54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071095]
[ENSMUST00000109879]
[ENSMUST00000125916]
[ENSMUST00000132682]
[ENSMUST00000147466]
|
| AlphaFold |
Q91WC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071095
AA Change: W47R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: W47R
| 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: W47R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: W47R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125916
AA Change: W54R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
AA Change: W54R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
9 |
155 |
1e-100 |
PDB |
|
Blast:SET
|
101 |
155 |
5e-32 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132682
AA Change: W47R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770
AA Change: W47R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
2 |
58 |
3e-30 |
PDB |
|
SCOP:d1epua_
|
50 |
79 |
6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147466
AA Change: W47R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770
AA Change: W47R
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,028 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,751,253 (GRCm39) |
D378G |
possibly damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,325,329 (GRCm39) |
F129L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,065,222 (GRCm39) |
K4064E |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,656 (GRCm39) |
D506G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,327,997 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,899,570 (GRCm39) |
Y1263N |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,443,117 (GRCm39) |
L1697P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,209,253 (GRCm39) |
F230S |
probably damaging |
Het |
| Cpxm1 |
C |
T |
2: 130,235,601 (GRCm39) |
V464M |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,706,715 (GRCm39) |
E291G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,228,998 (GRCm39) |
P1872H |
possibly damaging |
Het |
| G6pc2 |
G |
A |
2: 69,053,335 (GRCm39) |
A130T |
probably benign |
Het |
| Gm4847 |
A |
G |
1: 166,462,578 (GRCm39) |
V304A |
probably damaging |
Het |
| Gm8267 |
T |
C |
14: 44,955,374 (GRCm39) |
D155G |
possibly damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,066 (GRCm39) |
V580I |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,636,649 (GRCm39) |
S757P |
probably damaging |
Het |
| Krt34 |
C |
A |
11: 99,929,849 (GRCm39) |
A216S |
possibly damaging |
Het |
| Mfhas1 |
A |
T |
8: 36,056,526 (GRCm39) |
I334F |
probably damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,039,087 (GRCm39) |
M253V |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,137 (GRCm39) |
H133L |
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,815,468 (GRCm39) |
T419S |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,060,782 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,184,014 (GRCm39) |
S1662P |
probably damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,158,237 (GRCm39) |
W15* |
probably null |
Het |
| Serpina3k |
A |
G |
12: 104,311,525 (GRCm39) |
T368A |
probably benign |
Het |
| Slc9c1 |
G |
A |
16: 45,419,833 (GRCm39) |
S1001N |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,336,213 (GRCm39) |
D75G |
probably benign |
Het |
| Spata31e2 |
A |
G |
1: 26,724,104 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,532,820 (GRCm39) |
S333P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation