Incidental Mutation 'R6542:Setdb1'
ID |
520811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setdb1
|
Ensembl Gene |
ENSMUSG00000015697 |
Gene Name |
SET domain, bifurcated 1 |
Synonyms |
KMT1E, ESET |
MMRRC Submission |
044668-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6542 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 95247618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 426
(V426L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000107170]
[ENSMUST00000107171]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015841
AA Change: V426L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000015841 Gene: ENSMUSG00000015697 AA Change: V426L
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: ENSMUST00000107170
AA Change: V426L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102788 Gene: ENSMUSG00000015697 AA Change: V426L
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 |
possibly damaging
Transcript: ENSMUST00000107171
AA Change: V426L
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102789 Gene: ENSMUSG00000015697 AA Change: V426L
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
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 |
|
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 |
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 |
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'- GCTTCAGAAGGTACTGGTGG -3'
(R):5'- AGTCAGAGGACCATCTCAGC -3'
Sequencing Primer
(F):5'- TTACTCAGTGTCAGCTGC -3'
(R):5'- GCACTGGAGAAGCTCTGTTCTC -3'
|
Posted On |
2018-06-06 |