Incidental Mutation 'IGL00971:Setd3'
ID |
28782 |
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 # |
IGL00971
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108126496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 121
(I121N)
|
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: I114N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066413 Gene: ENSMUSG00000056770 AA Change: I114N
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: I114N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105505 Gene: ENSMUSG00000056770 AA Change: I114N
Domain | Start | End | E-Value | Type |
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125916
AA Change: I121N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122520 Gene: ENSMUSG00000056770 AA Change: I121N
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
Het |
|
Other mutations in Setd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-04-17 |