Incidental Mutation 'IGL03014:Setdb1'
| ID |
453302 |
| 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 # |
IGL03014 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95248726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 397
(P397S)
|
| 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: P397S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: P397S
| 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: P397S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: P397S
| 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: P397S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: P397S
| 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 |
0.1507 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,025,456 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc134 |
T |
C |
15: 82,014,306 (GRCm39) |
L13P |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,329,861 (GRCm39) |
V395F |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,331 (GRCm39) |
S730* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| Chrng |
G |
T |
1: 87,138,759 (GRCm39) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,190,222 (GRCm39) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,594,379 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,042,075 (GRCm39) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,351 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,838,739 (GRCm39) |
M292K |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,876,218 (GRCm39) |
Y461C |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,242,901 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,420,393 (GRCm39) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,222,713 (GRCm39) |
V236A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,233,932 (GRCm39) |
M377T |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,457,212 (GRCm39) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 106,945,206 (GRCm39) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,673,024 (GRCm39) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,931,371 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Odr4 |
C |
A |
1: 150,258,804 (GRCm39) |
|
probably benign |
Het |
| Or1a1b |
G |
A |
11: 74,097,653 (GRCm39) |
L130F |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,362,753 (GRCm39) |
V289E |
probably null |
Het |
| Pex10 |
A |
G |
4: 155,155,076 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,918,029 (GRCm39) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,294 (GRCm39) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,308 (GRCm39) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,154,923 (GRCm39) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,824,271 (GRCm39) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,240,180 (GRCm39) |
T288A |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,029,423 (GRCm39) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,002,539 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,883,754 (GRCm39) |
L380P |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,532,675 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,500 (GRCm39) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 53,007,353 (GRCm39) |
W12R |
unknown |
Het |
| Trmt1l |
G |
T |
1: 151,333,681 (GRCm39) |
W728L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,458,198 (GRCm39) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,711 (GRCm39) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 62,998,325 (GRCm39) |
Q109L |
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 |
|
|
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 |
|
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'- TTGCTCTGGTAAATAAAAGGACAGC -3'
(R):5'- AGCCTAGTCAGGATCCTCTTTC -3'
Sequencing Primer
(F):5'- CAGCTGCAATACATAATTTTCTGTGC -3'
(R):5'- GTTAACTGTGGAAAGACACTTGCTG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation