Incidental Mutation 'R6785:Setdb1'
| ID |
531606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| MMRRC Submission |
044899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95233712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1066
(R1066L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015841]
[ENSMUST00000015858]
[ENSMUST00000107170]
[ENSMUST00000107171]
[ENSMUST00000129267]
[ENSMUST00000139866]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015841
AA Change: R1066L
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: R1066L
| 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 benign
Transcript: ENSMUST00000107170
AA Change: R1066L
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: R1066L
| 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: R1065L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: R1065L
| 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 |
probably benign
Transcript: ENSMUST00000129267
|
| SMART Domains |
Protein: ENSMUSP00000121110
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
HOX
|
71 |
132 |
3.08e-2 |
SMART |
|
transmembrane domain
|
136 |
155 |
N/A |
INTRINSIC |
|
transmembrane domain
|
175 |
197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139866
|
| SMART Domains |
Protein: ENSMUSP00000120190
Gene: ENSMUSG00000015714
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
HOX
|
71 |
132 |
3.08e-2 |
SMART |
|
TLC
|
131 |
246 |
4.28e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.1061 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (59/60) |
| 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 |
|---|
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,747,908 (GRCm39) |
Y170C |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,402,605 (GRCm39) |
V587A |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,171,212 (GRCm39) |
I422V |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,556,788 (GRCm39) |
L375P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,799 (GRCm39) |
D102G |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,481 (GRCm39) |
|
probably benign |
Het |
| Coa4 |
G |
A |
7: 100,188,460 (GRCm39) |
V58M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,875,167 (GRCm39) |
N647S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,596,113 (GRCm39) |
G1547S |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Fasl |
T |
A |
1: 161,609,404 (GRCm39) |
Y194F |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,230,754 (GRCm39) |
E349G |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,312,531 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,845 (GRCm39) |
C86R |
unknown |
Het |
| H2-M9 |
T |
C |
17: 36,953,125 (GRCm39) |
N61D |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,247 (GRCm39) |
E380K |
possibly damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,126,283 (GRCm39) |
K67N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,709 (GRCm39) |
S170P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,665 (GRCm39) |
P2336Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,572 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
T |
C |
8: 95,822,270 (GRCm39) |
Y298H |
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,819,933 (GRCm39) |
N1610K |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,500 (GRCm39) |
C119* |
probably null |
Het |
| Lcn2 |
C |
T |
2: 32,277,039 (GRCm39) |
|
probably null |
Het |
| Lmf2 |
A |
T |
15: 89,236,236 (GRCm39) |
S588T |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,835 (GRCm39) |
L231P |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,547 (GRCm39) |
R288G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,338,392 (GRCm39) |
V694A |
probably benign |
Het |
| Ndnf |
C |
A |
6: 65,680,047 (GRCm39) |
L109I |
probably benign |
Het |
| Nfkb1 |
C |
A |
3: 135,321,064 (GRCm39) |
E230D |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,014,271 (GRCm39) |
K409R |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,854 (GRCm39) |
Q22R |
probably benign |
Het |
| Or1j10 |
C |
A |
2: 36,266,963 (GRCm39) |
Y58* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,765 (GRCm39) |
M136L |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,851,243 (GRCm39) |
T534N |
probably benign |
Het |
| Plekhf1 |
G |
A |
7: 37,921,488 (GRCm39) |
Q27* |
probably null |
Het |
| Ppp6c |
A |
T |
2: 39,087,593 (GRCm39) |
H204Q |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,536,670 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
A |
G |
7: 44,709,649 (GRCm39) |
F83L |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,210,692 (GRCm39) |
D938A |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,079,620 (GRCm39) |
N1228S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,764,299 (GRCm39) |
T3060K |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,409,824 (GRCm39) |
I557T |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,049,066 (GRCm39) |
M1100V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,121,198 (GRCm39) |
V353A |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,105,427 (GRCm39) |
T475S |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,071,085 (GRCm39) |
M1122K |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,444 (GRCm39) |
K223* |
probably null |
Het |
| Tex2 |
A |
C |
11: 106,424,776 (GRCm39) |
I334R |
probably damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Tfdp1 |
G |
T |
8: 13,427,233 (GRCm39) |
V393F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,644 (GRCm39) |
L26P |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,027 (GRCm39) |
I73T |
probably damaging |
Het |
| Tssk4 |
T |
A |
14: 55,887,932 (GRCm39) |
Y43N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,839 (GRCm39) |
T25389A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,578,288 (GRCm39) |
F24202I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,562 (GRCm39) |
S105P |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,601 (GRCm39) |
C541* |
probably null |
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 |
|
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'- CCTTCAGACTTCATGGGAGG -3'
(R):5'- GAGCTCACGAGACCCATTATTGAG -3'
Sequencing Primer
(F):5'- GATTATGTCCATGATTCTGAGAGCC -3'
(R):5'- CCTTGCCAGGAGAGTATACTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation