Incidental Mutation 'IGL02795:Setdb1'
| ID |
359951 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95323525-95357202 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95327373 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1006
(N1006K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000015858]
[ENSMUST00000107170]
[ENSMUST00000107171]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015841
AA Change: N1006K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: N1006K
| 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: ENSMUST00000015858
|
| SMART Domains |
Protein: ENSMUSP00000015858
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
HOX
|
71 |
132 |
3.08e-2 |
SMART |
|
TLC
|
131 |
332 |
1.17e-81 |
SMART |
|
low complexity region
|
337 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107170
AA Change: N1006K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: N1006K
| 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: N1005K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: N1005K
| 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: ENSMUST00000134702
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,288,748 (GRCm38) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,361,642 (GRCm38) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,462,952 (GRCm38) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,033,742 (GRCm38) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,460,616 (GRCm38) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,174,867 (GRCm38) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,636,577 (GRCm38) |
I47F |
probably benign |
Het |
| Dnaja3 |
A |
G |
16: 4,690,073 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,927,111 (GRCm38) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,639,978 (GRCm38) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,933,778 (GRCm38) |
Y257C |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,495,818 (GRCm38) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,203,613 (GRCm38) |
R983W |
unknown |
Het |
| Galnt5 |
C |
A |
2: 58,027,871 (GRCm38) |
P707H |
probably damaging |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm38) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,862,673 (GRCm38) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,032,493 (GRCm38) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,322,517 (GRCm38) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,957,553 (GRCm38) |
|
probably benign |
Het |
| Kdelc2 |
A |
G |
9: 53,392,105 (GRCm38) |
D99G |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,738,894 (GRCm38) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 110,008,210 (GRCm38) |
|
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,478,768 (GRCm38) |
T830M |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,689,432 (GRCm38) |
T341A |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,952,406 (GRCm38) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,803,552 (GRCm38) |
S362G |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,965,285 (GRCm38) |
H87N |
probably damaging |
Het |
| Oit1 |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Olfr1018 |
T |
A |
2: 85,823,512 (GRCm38) |
C180* |
probably null |
Het |
| Olfr142 |
A |
G |
2: 90,252,562 (GRCm38) |
L142P |
probably damaging |
Het |
| Olfr183 |
G |
T |
16: 59,000,277 (GRCm38) |
L197F |
possibly damaging |
Het |
| Olfr23 |
G |
A |
11: 73,940,929 (GRCm38) |
V228I |
probably benign |
Het |
| Olfr243 |
T |
A |
7: 103,716,883 (GRCm38) |
F96L |
probably benign |
Het |
| Pcsk1 |
G |
T |
13: 75,112,620 (GRCm38) |
G321C |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,714,299 (GRCm38) |
P374T |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 89,091,950 (GRCm38) |
L175Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,595,190 (GRCm38) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,730,680 (GRCm38) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,703,411 (GRCm38) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 33,931,593 (GRCm38) |
L15R |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,274,490 (GRCm38) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,400,895 (GRCm38) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,647,112 (GRCm38) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,575,419 (GRCm38) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,733,083 (GRCm38) |
V255F |
probably benign |
Het |
| St5 |
T |
C |
7: 109,556,364 (GRCm38) |
Y393C |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm38) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,966,549 (GRCm38) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,545,959 (GRCm38) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,919,389 (GRCm38) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 86,917,701 (GRCm38) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,215,302 (GRCm38) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,085,277 (GRCm38) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,256,090 (GRCm38) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,509,136 (GRCm38) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,837,438 (GRCm38) |
E273G |
possibly damaging |
Het |
|
| Other mutations in Setdb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Setdb1
|
APN |
3 |
95,338,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00915:Setdb1
|
APN |
3 |
95,346,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Setdb1
|
APN |
3 |
95,338,580 (GRCm38) |
nonsense |
probably null |
|
|
IGL01710:Setdb1
|
APN |
3 |
95,338,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02824:Setdb1
|
APN |
3 |
95,339,904 (GRCm38) |
splice site |
probably benign |
|
|
IGL02838:Setdb1
|
APN |
3 |
95,337,268 (GRCm38) |
splice site |
probably null |
|
|
IGL03014:Setdb1
|
UTSW |
3 |
95,341,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0077:Setdb1
|
UTSW |
3 |
95,341,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0344:Setdb1
|
UTSW |
3 |
95,326,131 (GRCm38) |
unclassified |
probably benign |
|
|
R0367:Setdb1
|
UTSW |
3 |
95,349,881 (GRCm38) |
splice site |
probably benign |
|
|
R0374:Setdb1
|
UTSW |
3 |
95,324,853 (GRCm38) |
unclassified |
probably benign |
|
|
R0411:Setdb1
|
UTSW |
3 |
95,327,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0501:Setdb1
|
UTSW |
3 |
95,338,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0521:Setdb1
|
UTSW |
3 |
95,338,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0616:Setdb1
|
UTSW |
3 |
95,341,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0828:Setdb1
|
UTSW |
3 |
95,338,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0990:Setdb1
|
UTSW |
3 |
95,340,265 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1263:Setdb1
|
UTSW |
3 |
95,327,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1297:Setdb1
|
UTSW |
3 |
95,349,876 (GRCm38) |
splice site |
probably benign |
|
|
R1497:Setdb1
|
UTSW |
3 |
95,327,467 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2885:Setdb1
|
UTSW |
3 |
95,340,195 (GRCm38) |
missense |
probably benign |
|
|
R2907:Setdb1
|
UTSW |
3 |
95,327,201 (GRCm38) |
splice site |
probably benign |
|
|
R3236:Setdb1
|
UTSW |
3 |
95,338,754 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3237:Setdb1
|
UTSW |
3 |
95,338,754 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3972:Setdb1
|
UTSW |
3 |
95,341,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4260:Setdb1
|
UTSW |
3 |
95,327,497 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5284:Setdb1
|
UTSW |
3 |
95,327,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5484:Setdb1
|
UTSW |
3 |
95,337,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5955:Setdb1
|
UTSW |
3 |
95,338,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6542:Setdb1
|
UTSW |
3 |
95,340,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6610:Setdb1
|
UTSW |
3 |
95,328,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6632:Setdb1
|
UTSW |
3 |
95,324,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6785:Setdb1
|
UTSW |
3 |
95,326,401 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7176:Setdb1
|
UTSW |
3 |
95,337,147 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7250:Setdb1
|
UTSW |
3 |
95,354,541 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7259:Setdb1
|
UTSW |
3 |
95,339,913 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7282:Setdb1
|
UTSW |
3 |
95,338,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7497:Setdb1
|
UTSW |
3 |
95,341,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7553:Setdb1
|
UTSW |
3 |
95,346,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Setdb1
|
UTSW |
3 |
95,326,399 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8022:Setdb1
|
UTSW |
3 |
95,347,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Setdb1
|
UTSW |
3 |
95,338,599 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8189:Setdb1
|
UTSW |
3 |
95,346,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8558:Setdb1
|
UTSW |
3 |
95,354,668 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8693:Setdb1
|
UTSW |
3 |
95,341,730 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8812:Setdb1
|
UTSW |
3 |
95,356,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8940:Setdb1
|
UTSW |
3 |
95,356,172 (GRCm38) |
missense |
probably benign |
|
|
R9207:Setdb1
|
UTSW |
3 |
95,338,802 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9509:Setdb1
|
UTSW |
3 |
95,354,589 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9784:Setdb1
|
UTSW |
3 |
95,325,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Setdb1
|
UTSW |
3 |
95,338,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation