Incidental Mutation 'R0367:Setdb1'
| ID |
30262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| MMRRC Submission |
038573-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0367 (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 G
at 95257192 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
| Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
| C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
| Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
| Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,261,594 (GRCm39) |
C980* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,015,297 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
| Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,057,471 (GRCm39) |
F735L |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
| Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
| Sp140l2 |
G |
T |
1: 85,247,824 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
| Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
| Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
| Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
probably damaging |
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 |
|
|
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 |
|
R1297:Setdb1
|
UTSW |
3 |
95,257,187 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-24 |
Incidental Mutation