Incidental Mutation 'R5284:Setdb1'
ID |
402924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setdb1
|
Ensembl Gene |
ENSMUSG00000015697 |
Gene Name |
SET domain, bifurcated 1 |
Synonyms |
KMT1E, ESET |
MMRRC Submission |
042841-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5284 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 95234881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 941
(R941S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000015858]
[ENSMUST00000107170]
[ENSMUST00000107171]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015841
AA Change: R941S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000015841 Gene: ENSMUSG00000015697 AA Change: R941S
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: ENSMUST00000015858
|
SMART Domains |
Protein: ENSMUSP00000015858 Gene: ENSMUSG00000015714
Domain | Start | End | E-Value | Type |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
HOX
|
71 |
132 |
3.08e-2 |
SMART |
TLC
|
131 |
332 |
1.17e-81 |
SMART |
low complexity region
|
337 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107170
AA Change: R941S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102788 Gene: ENSMUSG00000015697 AA Change: R941S
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 damaging
Transcript: ENSMUST00000107171
AA Change: R940S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102789 Gene: ENSMUSG00000015697 AA Change: R940S
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: ENSMUST00000134702
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
Cactin |
A |
G |
10: 81,159,596 (GRCm39) |
D51G |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
Dhdds |
A |
G |
4: 133,707,523 (GRCm39) |
V187A |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
Fastkd1 |
T |
C |
2: 69,542,532 (GRCm39) |
T92A |
probably benign |
Het |
Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,415,485 (GRCm39) |
S487P |
probably damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Smg8 |
G |
A |
11: 86,971,137 (GRCm39) |
S878L |
possibly damaging |
Het |
Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
possibly 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 |
|
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 |
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 |
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 |
PCR Primer
(F):5'- ACGAGGCCACCTTGTTCTTG -3'
(R):5'- GATGAGTACTTTGCAAATCTGGAC -3'
Sequencing Primer
(F):5'- GCCACCTTGTTCTTGGGTGTC -3'
(R):5'- TCTGGACCACATTGAAAGTGTG -3'
|
Posted On |
2016-07-22 |