Incidental Mutation 'R5955:Setdb1'
| ID |
471094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95246153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 590
(Y590H)
|
| 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 damaging
Transcript: ENSMUST00000015841
AA Change: Y591H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: Y591H
| 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: Y591H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: Y591H
| 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: Y590H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: Y590H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
| Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,889 (GRCm39) |
F200L |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,248,843 (GRCm39) |
N569K |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,987,088 (GRCm39) |
V178A |
probably damaging |
Het |
| Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,969,055 (GRCm39) |
I495V |
probably benign |
Het |
| Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
| Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
| Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
| Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
| Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
| Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
| Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
| Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
| Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
| Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
| Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
| Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,343,129 (GRCm39) |
N426S |
probably benign |
Het |
| Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
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 |
|
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 |
|
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'- AAGGTAGCGCTCTATCTCCTG -3'
(R):5'- TGGCCTCAGTAACATCTACCC -3'
Sequencing Primer
(F):5'- ATCTCCTGCATCGTCCGAAG -3'
(R):5'- TCTACCCCAGCATCTGCAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation