Incidental Mutation 'R1297:Setdb1'
ID |
158170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setdb1
|
Ensembl Gene |
ENSMUSG00000015697 |
Gene Name |
SET domain, bifurcated 1 |
Synonyms |
KMT1E, ESET |
MMRRC Submission |
039363-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 95257187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000107170]
[ENSMUST00000107171]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015841
|
SMART Domains |
Protein: ENSMUSP00000015841 Gene: ENSMUSG00000015697
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
low complexity region
|
121 |
131 |
N/A |
INTRINSIC |
TUDOR
|
256 |
318 |
6.16e-8 |
SMART |
TUDOR
|
346 |
401 |
1.03e-9 |
SMART |
low complexity region
|
451 |
471 |
N/A |
INTRINSIC |
low complexity region
|
496 |
516 |
N/A |
INTRINSIC |
low complexity region
|
529 |
568 |
N/A |
INTRINSIC |
MBD
|
615 |
690 |
4.63e-33 |
SMART |
PreSET
|
697 |
804 |
1.75e-41 |
SMART |
SET
|
821 |
1289 |
1.76e-41 |
SMART |
PostSET
|
1292 |
1308 |
1.88e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107170
|
SMART Domains |
Protein: ENSMUSP00000102788 Gene: ENSMUSG00000015697
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
low complexity region
|
121 |
131 |
N/A |
INTRINSIC |
TUDOR
|
256 |
318 |
6.16e-8 |
SMART |
TUDOR
|
346 |
401 |
1.03e-9 |
SMART |
low complexity region
|
451 |
471 |
N/A |
INTRINSIC |
low complexity region
|
496 |
516 |
N/A |
INTRINSIC |
low complexity region
|
529 |
568 |
N/A |
INTRINSIC |
MBD
|
615 |
690 |
4.63e-33 |
SMART |
PreSET
|
697 |
804 |
1.75e-41 |
SMART |
SET
|
821 |
1289 |
1.76e-41 |
SMART |
PostSET
|
1292 |
1308 |
1.88e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107171
|
SMART Domains |
Protein: ENSMUSP00000102789 Gene: ENSMUSG00000015697
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
low complexity region
|
121 |
131 |
N/A |
INTRINSIC |
TUDOR
|
256 |
318 |
6.16e-8 |
SMART |
TUDOR
|
346 |
401 |
1.03e-9 |
SMART |
low complexity region
|
451 |
471 |
N/A |
INTRINSIC |
low complexity region
|
495 |
515 |
N/A |
INTRINSIC |
low complexity region
|
528 |
567 |
N/A |
INTRINSIC |
MBD
|
614 |
689 |
4.63e-33 |
SMART |
PreSET
|
696 |
803 |
1.75e-41 |
SMART |
SET
|
820 |
1288 |
1.76e-41 |
SMART |
PostSET
|
1291 |
1307 |
1.88e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199960
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011] PHENOTYPE: Homozygous inactivation of this locus results in peri-implantation lethality. Inner cell mass growth is impaired in null blastocysts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
Pgk2 |
C |
A |
17: 40,519,255 (GRCm39) |
V58L |
probably benign |
Het |
Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
probably benign |
Het |
|
Other mutations in Setdb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Setdb1
|
APN |
3 |
95,245,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00915:Setdb1
|
APN |
3 |
95,254,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Setdb1
|
APN |
3 |
95,245,891 (GRCm39) |
nonsense |
probably null |
|
IGL01710:Setdb1
|
APN |
3 |
95,246,164 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02795:Setdb1
|
APN |
3 |
95,234,684 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02824:Setdb1
|
APN |
3 |
95,247,215 (GRCm39) |
splice site |
probably benign |
|
IGL02838:Setdb1
|
APN |
3 |
95,244,579 (GRCm39) |
splice site |
probably null |
|
IGL03014:Setdb1
|
UTSW |
3 |
95,248,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:Setdb1
|
UTSW |
3 |
95,248,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Setdb1
|
UTSW |
3 |
95,233,442 (GRCm39) |
unclassified |
probably benign |
|
R0367:Setdb1
|
UTSW |
3 |
95,257,192 (GRCm39) |
splice site |
probably benign |
|
R0374:Setdb1
|
UTSW |
3 |
95,232,164 (GRCm39) |
unclassified |
probably benign |
|
R0411:Setdb1
|
UTSW |
3 |
95,234,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0501:Setdb1
|
UTSW |
3 |
95,246,140 (GRCm39) |
missense |
probably benign |
0.00 |
R0521:Setdb1
|
UTSW |
3 |
95,246,140 (GRCm39) |
missense |
probably benign |
0.00 |
R0616:Setdb1
|
UTSW |
3 |
95,249,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Setdb1
|
UTSW |
3 |
95,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0990:Setdb1
|
UTSW |
3 |
95,247,576 (GRCm39) |
missense |
probably benign |
0.00 |
R1263:Setdb1
|
UTSW |
3 |
95,234,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R1497:Setdb1
|
UTSW |
3 |
95,234,778 (GRCm39) |
missense |
probably benign |
0.44 |
R2885:Setdb1
|
UTSW |
3 |
95,247,506 (GRCm39) |
missense |
probably benign |
|
R2907:Setdb1
|
UTSW |
3 |
95,234,512 (GRCm39) |
splice site |
probably benign |
|
R3236:Setdb1
|
UTSW |
3 |
95,246,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R3237:Setdb1
|
UTSW |
3 |
95,246,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R3972:Setdb1
|
UTSW |
3 |
95,248,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Setdb1
|
UTSW |
3 |
95,234,808 (GRCm39) |
missense |
probably damaging |
0.96 |
R5284:Setdb1
|
UTSW |
3 |
95,234,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R5484:Setdb1
|
UTSW |
3 |
95,244,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R5955:Setdb1
|
UTSW |
3 |
95,246,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6542:Setdb1
|
UTSW |
3 |
95,247,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Setdb1
|
UTSW |
3 |
95,235,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R6632:Setdb1
|
UTSW |
3 |
95,231,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R6785:Setdb1
|
UTSW |
3 |
95,233,712 (GRCm39) |
missense |
probably benign |
0.09 |
R7176:Setdb1
|
UTSW |
3 |
95,244,458 (GRCm39) |
critical splice donor site |
probably null |
|
R7250:Setdb1
|
UTSW |
3 |
95,261,852 (GRCm39) |
critical splice donor site |
probably null |
|
R7259:Setdb1
|
UTSW |
3 |
95,247,224 (GRCm39) |
missense |
probably benign |
0.08 |
R7282:Setdb1
|
UTSW |
3 |
95,245,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7497:Setdb1
|
UTSW |
3 |
95,249,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Setdb1
|
UTSW |
3 |
95,254,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Setdb1
|
UTSW |
3 |
95,233,710 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8022:Setdb1
|
UTSW |
3 |
95,254,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Setdb1
|
UTSW |
3 |
95,245,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8189:Setdb1
|
UTSW |
3 |
95,254,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R8558:Setdb1
|
UTSW |
3 |
95,261,979 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8693:Setdb1
|
UTSW |
3 |
95,249,041 (GRCm39) |
missense |
probably damaging |
0.99 |
R8812:Setdb1
|
UTSW |
3 |
95,263,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Setdb1
|
UTSW |
3 |
95,263,483 (GRCm39) |
missense |
probably benign |
|
R9207:Setdb1
|
UTSW |
3 |
95,246,113 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9509:Setdb1
|
UTSW |
3 |
95,261,900 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9784:Setdb1
|
UTSW |
3 |
95,233,173 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Setdb1
|
UTSW |
3 |
95,245,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2014-02-18 |