Incidental Mutation 'R7259:Setdb1'
| ID |
564465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| MMRRC Submission |
045351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95247224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 525
(T525I)
|
| 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 benign
Transcript: ENSMUST00000015841
AA Change: T525I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: T525I
| 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
AA Change: T525I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: T525I
| 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
AA Change: T524I
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: T524I
| 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 |
|
| Meta Mutation Damage Score |
0.1351 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,620,288 (GRCm39) |
Y258C |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,494 (GRCm39) |
S244G |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,230 (GRCm39) |
Y495N |
probably damaging |
Het |
| Arhgap33 |
A |
G |
7: 30,231,625 (GRCm39) |
V120A |
probably damaging |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,604,132 (GRCm39) |
Y434H |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,924,038 (GRCm39) |
R1268* |
probably null |
Het |
| AW554918 |
A |
G |
18: 25,422,906 (GRCm39) |
|
probably null |
Het |
| Canx |
A |
G |
11: 50,192,643 (GRCm39) |
W324R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,424 (GRCm39) |
E202G |
unknown |
Het |
| Crh |
C |
A |
3: 19,748,418 (GRCm39) |
A75S |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,817,299 (GRCm39) |
|
probably null |
Het |
| Dmrta2 |
T |
A |
4: 109,839,104 (GRCm39) |
S284T |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,384,477 (GRCm39) |
V680A |
probably damaging |
Het |
| Duox2 |
G |
A |
2: 122,125,657 (GRCm39) |
R317C |
probably damaging |
Het |
| Elmod2 |
A |
G |
8: 84,048,138 (GRCm39) |
L108P |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,825,792 (GRCm39) |
S540P |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,812,474 (GRCm39) |
A2931V |
possibly damaging |
Het |
| Gipc2 |
A |
T |
3: 151,833,693 (GRCm39) |
I196K |
probably damaging |
Het |
| Gli2 |
A |
G |
1: 118,764,264 (GRCm39) |
S1296P |
probably benign |
Het |
| Gm21103 |
T |
A |
14: 17,482,882 (GRCm39) |
Q173L |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,986,546 (GRCm39) |
|
probably null |
Het |
| Grm8 |
G |
A |
6: 27,760,175 (GRCm39) |
T385I |
probably null |
Het |
| Gtf2f1 |
C |
A |
17: 57,311,562 (GRCm39) |
D283Y |
probably damaging |
Het |
| Hcar1 |
T |
A |
5: 124,017,275 (GRCm39) |
T139S |
possibly damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,029,611 (GRCm39) |
T157S |
possibly damaging |
Het |
| Htra2 |
T |
G |
6: 83,028,520 (GRCm39) |
Q436P |
possibly damaging |
Het |
| Igkv1-133 |
A |
G |
6: 67,702,522 (GRCm39) |
D80G |
probably benign |
Het |
| Il21 |
C |
A |
3: 37,281,803 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
T |
A |
7: 128,271,681 (GRCm39) |
C359S |
probably benign |
Het |
| Itgb6 |
A |
T |
2: 60,480,355 (GRCm39) |
I327N |
probably damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,081,316 (GRCm39) |
T232S |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,001,532 (GRCm39) |
K266* |
probably null |
Het |
| Mcm10 |
C |
A |
2: 5,011,328 (GRCm39) |
E214D |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,530,917 (GRCm39) |
I522F |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,112,340 (GRCm39) |
I581F |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,440,863 (GRCm39) |
Y306N |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,911 (GRCm39) |
H247L |
probably benign |
Het |
| Or4c119 |
A |
C |
2: 88,986,854 (GRCm39) |
F222V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,966 (GRCm39) |
M67K |
probably damaging |
Het |
| Or5k1b |
T |
C |
16: 58,580,868 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or6c68 |
T |
A |
10: 129,157,663 (GRCm39) |
M57K |
probably benign |
Het |
| Pbxip1 |
C |
A |
3: 89,352,940 (GRCm39) |
F195L |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,414,677 (GRCm39) |
F816Y |
probably benign |
Het |
| Pi4k2b |
C |
A |
5: 52,910,587 (GRCm39) |
N290K |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,240,416 (GRCm39) |
S598P |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,240,838 (GRCm39) |
V835A |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Scg2 |
T |
C |
1: 79,414,702 (GRCm39) |
Y7C |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,331,604 (GRCm39) |
V137A |
probably benign |
Het |
| Sgcg |
A |
T |
14: 61,462,666 (GRCm39) |
I227N |
probably benign |
Het |
| Slc35e4 |
A |
T |
11: 3,862,530 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,631,864 (GRCm39) |
Q560* |
probably null |
Het |
| Stk10 |
A |
G |
11: 32,548,497 (GRCm39) |
N355S |
probably benign |
Het |
| Supt6 |
A |
T |
11: 78,098,442 (GRCm39) |
D1716E |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,390,608 (GRCm39) |
A523V |
probably benign |
Het |
| Tekt3 |
A |
G |
11: 62,974,592 (GRCm39) |
T304A |
possibly damaging |
Het |
| Ttc6 |
G |
T |
12: 57,622,970 (GRCm39) |
R123L |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,296,713 (GRCm39) |
|
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,672,909 (GRCm39) |
L895P |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,424,645 (GRCm39) |
N1990K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wipf1 |
A |
G |
2: 73,265,425 (GRCm39) |
S393P |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,986,946 (GRCm39) |
S184G |
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 |
|
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 |
|
|
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'- AAAAGGCCCAGTGGTGTCTC -3'
(R):5'- TGGTCTCCTAATCTCCCTAGAAG -3'
Sequencing Primer
(F):5'- CTCCTTTCTGTTGAAGCAATGATG -3'
(R):5'- TAATCTCCCTAGAAGCTTAGAAAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation