Incidental Mutation 'R7553:Setdb1'
ID |
584531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setdb1
|
Ensembl Gene |
ENSMUSG00000015697 |
Gene Name |
SET domain, bifurcated 1 |
Synonyms |
KMT1E, ESET |
MMRRC Submission |
045622-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7553 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95254076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 242
(L242P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015841
(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: L242P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015841 Gene: ENSMUSG00000015697 AA Change: L242P
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: L242P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102788 Gene: ENSMUSG00000015697 AA Change: L242P
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: L242P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102789 Gene: ENSMUSG00000015697 AA Change: L242P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (62/63) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,648,545 (GRCm39) |
L649P |
probably damaging |
Het |
Acad10 |
T |
C |
5: 121,777,318 (GRCm39) |
Y371C |
probably damaging |
Het |
Avp |
A |
G |
2: 130,423,098 (GRCm39) |
V71A |
probably damaging |
Het |
Bhmt |
C |
T |
13: 93,756,589 (GRCm39) |
|
probably null |
Het |
Capn15 |
T |
C |
17: 26,179,738 (GRCm39) |
E874G |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,773,231 (GRCm39) |
F591S |
probably damaging |
Het |
Ccne2 |
A |
T |
4: 11,201,348 (GRCm39) |
Q292L |
probably benign |
Het |
Cd96 |
T |
G |
16: 45,872,384 (GRCm39) |
T406P |
probably damaging |
Het |
Csnk1e |
G |
A |
15: 79,310,566 (GRCm39) |
A153V |
probably damaging |
Het |
Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
Dmbt1 |
A |
G |
7: 130,706,597 (GRCm39) |
N1372S |
unknown |
Het |
Dntt |
A |
T |
19: 41,017,926 (GRCm39) |
R17W |
probably damaging |
Het |
Erich3 |
G |
T |
3: 154,439,137 (GRCm39) |
A260S |
probably benign |
Het |
Foxp2 |
C |
T |
6: 15,437,881 (GRCm39) |
S669L |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Grid2 |
A |
G |
6: 64,053,925 (GRCm39) |
K375E |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,749,394 (GRCm39) |
G603S |
possibly damaging |
Het |
Hexb |
C |
T |
13: 97,334,681 (GRCm39) |
R30Q |
probably benign |
Het |
Homer3 |
A |
T |
8: 70,742,774 (GRCm39) |
T162S |
probably benign |
Het |
L3mbtl1 |
A |
G |
2: 162,790,151 (GRCm39) |
E15G |
probably benign |
Het |
Manea |
A |
T |
4: 26,327,986 (GRCm39) |
F352I |
probably damaging |
Het |
Mcf2l |
T |
A |
8: 13,047,268 (GRCm39) |
M210K |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,667,824 (GRCm39) |
L734P |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,155,571 (GRCm39) |
V894A |
possibly damaging |
Het |
Myh4 |
T |
A |
11: 67,147,221 (GRCm39) |
M1622K |
probably damaging |
Het |
Myrf |
A |
G |
19: 10,206,240 (GRCm39) |
F59L |
probably benign |
Het |
Ndst3 |
G |
T |
3: 123,350,709 (GRCm39) |
|
probably null |
Het |
Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
Nos3 |
A |
T |
5: 24,586,715 (GRCm39) |
D986V |
possibly damaging |
Het |
Nrp1 |
G |
A |
8: 129,158,468 (GRCm39) |
A252T |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,178,934 (GRCm39) |
R668L |
probably damaging |
Het |
Or51aa2 |
T |
C |
7: 103,188,363 (GRCm39) |
Y26C |
probably damaging |
Het |
Or5af2 |
T |
A |
11: 58,707,886 (GRCm39) |
D17E |
probably benign |
Het |
Or5p56 |
G |
A |
7: 107,589,682 (GRCm39) |
V37I |
probably benign |
Het |
Pcdhga1 |
T |
A |
18: 37,882,735 (GRCm39) |
|
probably null |
Het |
Pck1 |
A |
G |
2: 172,998,860 (GRCm39) |
I373V |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,223,258 (GRCm39) |
N227S |
probably benign |
Het |
Pianp |
T |
G |
6: 124,976,214 (GRCm39) |
S8A |
unknown |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pla2r1 |
A |
T |
2: 60,353,243 (GRCm39) |
N239K |
possibly damaging |
Het |
Pls1 |
T |
A |
9: 95,669,140 (GRCm39) |
N27I |
probably damaging |
Het |
Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
Prss56 |
A |
G |
1: 87,111,261 (GRCm39) |
D16G |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,769,794 (GRCm39) |
F255Y |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,326,548 (GRCm39) |
E173G |
probably damaging |
Het |
Retreg3 |
C |
T |
11: 100,997,216 (GRCm39) |
R88H |
possibly damaging |
Het |
Rhag |
G |
A |
17: 41,139,286 (GRCm39) |
G74R |
probably damaging |
Het |
Rybp |
A |
G |
6: 100,209,220 (GRCm39) |
S201P |
possibly damaging |
Het |
S100a10 |
G |
A |
3: 93,471,602 (GRCm39) |
C62Y |
probably benign |
Het |
Scgb2b3 |
T |
A |
7: 31,059,673 (GRCm39) |
S34C |
possibly damaging |
Het |
Serpind1 |
A |
G |
16: 17,154,539 (GRCm39) |
D122G |
probably benign |
Het |
Slc14a2 |
T |
A |
18: 78,198,803 (GRCm39) |
I776F |
probably damaging |
Het |
Slc9a1 |
A |
G |
4: 133,139,580 (GRCm39) |
E266G |
probably damaging |
Het |
Stard9 |
A |
T |
2: 120,524,289 (GRCm39) |
|
probably null |
Het |
Stpg2 |
A |
G |
3: 138,924,098 (GRCm39) |
Y167C |
probably damaging |
Het |
Tex264 |
T |
C |
9: 106,536,335 (GRCm39) |
E274G |
probably damaging |
Het |
Tigd2 |
G |
A |
6: 59,188,564 (GRCm39) |
S477N |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,589,752 (GRCm39) |
L343P |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,975,680 (GRCm39) |
C246S |
possibly damaging |
Het |
Vil1 |
G |
A |
1: 74,465,891 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
C |
G |
7: 41,916,205 (GRCm39) |
L273V |
not run |
Het |
Vmn2r-ps158 |
T |
G |
7: 42,697,447 (GRCm39) |
C835G |
probably damaging |
Het |
Zfp37 |
C |
A |
4: 62,110,236 (GRCm39) |
G317V |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,941,872 (GRCm39) |
K349R |
possibly damaging |
Het |
Zyx |
A |
T |
6: 42,327,408 (GRCm39) |
E69V |
probably null |
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 |
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 |
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'- TACGAATAGATGGCACCAGGC -3'
(R):5'- GGTAACCTGTAGGGCATCCATTG -3'
Sequencing Primer
(F):5'- AGGCCCCATTCTCCTACAATC -3'
(R):5'- ATTGCTGACTGTTTTTCCAAAGC -3'
|
Posted On |
2019-10-17 |