Incidental Mutation 'R3237:Setdb1'
| ID |
259078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| MMRRC Submission |
040619-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3237 (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 95246065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 619
(V619A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000107170]
[ENSMUST00000107171]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015841
AA Change: V620A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: V620A
| 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: ENSMUST00000107170
AA Change: V620A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: V620A
| 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: V619A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: V619A
| 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
|
| Meta Mutation Damage Score |
0.4116 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
| Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,520,090 (GRCm39) |
V53I |
probably benign |
Het |
| Cd3e |
G |
T |
9: 44,913,608 (GRCm39) |
C42* |
probably null |
Het |
| Cd4 |
A |
T |
6: 124,844,633 (GRCm39) |
I384N |
probably benign |
Het |
| Ceacam11 |
T |
A |
7: 17,707,379 (GRCm39) |
F54L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,197,506 (GRCm39) |
S2122P |
probably damaging |
Het |
| Clptm1 |
A |
G |
7: 19,369,271 (GRCm39) |
S461P |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,549,331 (GRCm39) |
T518A |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
| Fam181a |
T |
G |
12: 103,282,348 (GRCm39) |
C84W |
possibly damaging |
Het |
| Gask1a |
C |
T |
9: 121,793,935 (GRCm39) |
P30S |
possibly damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,674,279 (GRCm39) |
R329G |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,031,306 (GRCm39) |
I168L |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,973,175 (GRCm39) |
I1581F |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
| Lyzl4 |
T |
C |
9: 121,413,233 (GRCm39) |
D65G |
probably benign |
Het |
| Med29 |
A |
G |
7: 28,092,046 (GRCm39) |
|
probably benign |
Het |
| Myrip |
C |
A |
9: 120,270,473 (GRCm39) |
D574E |
possibly damaging |
Het |
| N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,270,810 (GRCm39) |
K892* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,460,701 (GRCm39) |
H2309Q |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Optn |
T |
C |
2: 5,039,014 (GRCm39) |
S370G |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,754,432 (GRCm39) |
F151L |
probably damaging |
Het |
| Plekhs1 |
A |
T |
19: 56,453,032 (GRCm39) |
|
probably null |
Het |
| Rpn1 |
A |
G |
6: 88,080,396 (GRCm39) |
K565R |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,769,075 (GRCm39) |
|
probably null |
Het |
| Scai |
C |
T |
2: 39,040,326 (GRCm39) |
|
probably benign |
Het |
| Scap |
C |
G |
9: 110,208,650 (GRCm39) |
P564A |
probably damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,613,847 (GRCm39) |
Y226H |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,186,725 (GRCm39) |
R180Q |
probably benign |
Het |
| Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,886 (GRCm39) |
F175S |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
| Syngap1 |
T |
A |
17: 27,176,067 (GRCm39) |
Y118* |
probably null |
Het |
| Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Uba3 |
G |
T |
6: 97,163,201 (GRCm39) |
T319K |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,296,650 (GRCm39) |
L751S |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,819,239 (GRCm39) |
M1275V |
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
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 |
|
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 |
|
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'- GGCTTAAAGGGTTGAAACTTTCTG -3'
(R):5'- ATCTACCCCAGCATCTGCAG -3'
Sequencing Primer
(F):5'- GGGTTGAAACTTTCTGTCAACAAG -3'
(R):5'- AGCATCTGCAGCCCCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation