Incidental Mutation 'R8693:Setdb1'
| ID |
668486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb1
|
| Ensembl Gene |
ENSMUSG00000015697 |
| Gene Name |
SET domain, bifurcated 1 |
| Synonyms |
KMT1E, ESET |
| MMRRC Submission |
068547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95230836-95264513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95249041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 356
(T356A)
|
| 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 damaging
Transcript: ENSMUST00000015841
AA Change: T356A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: T356A
| 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: T356A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: T356A
| 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: T356A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: T356A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,810,474 (GRCm39) |
S924P |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,364,844 (GRCm39) |
H1508R |
probably damaging |
Het |
| Adam34 |
T |
C |
8: 44,104,641 (GRCm39) |
M335V |
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,529,625 (GRCm39) |
N438K |
probably damaging |
Het |
| Alpi |
C |
A |
1: 87,026,405 (GRCm39) |
G529C |
unknown |
Het |
| Arhgap30 |
T |
C |
1: 171,225,094 (GRCm39) |
V50A |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,088,960 (GRCm39) |
E145G |
probably damaging |
Het |
| Ccdc177 |
A |
G |
12: 80,804,582 (GRCm39) |
L564P |
unknown |
Het |
| Cdk12 |
C |
T |
11: 98,141,133 (GRCm39) |
P1458L |
unknown |
Het |
| Chek1 |
A |
G |
9: 36,625,140 (GRCm39) |
F314L |
probably benign |
Het |
| Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,656,522 (GRCm39) |
V239A |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,492 (GRCm39) |
M2246T |
probably benign |
Het |
| Crhr2 |
A |
G |
6: 55,079,779 (GRCm39) |
F187S |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,192,631 (GRCm39) |
V1692D |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,565,046 (GRCm39) |
I57N |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,911,272 (GRCm39) |
L977* |
probably null |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,088,952 (GRCm39) |
S865P |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,858,535 (GRCm39) |
I275F |
possibly damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,262,718 (GRCm39) |
I757N |
probably damaging |
Het |
| Exog |
A |
G |
9: 119,276,108 (GRCm39) |
Q110R |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,403,704 (GRCm39) |
C426R |
probably benign |
Het |
| Fndc11 |
A |
C |
2: 180,863,864 (GRCm39) |
H223P |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,080,286 (GRCm39) |
S334R |
probably damaging |
Het |
| Galnt14 |
A |
T |
17: 73,833,257 (GRCm39) |
I239N |
probably damaging |
Het |
| Gm5930 |
C |
T |
14: 44,576,015 (GRCm39) |
M1I |
probably null |
Het |
| Igkv4-63 |
A |
G |
6: 69,355,051 (GRCm39) |
S77P |
probably benign |
Het |
| Igkv5-48 |
G |
A |
6: 69,703,779 (GRCm39) |
S42F |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,854,884 (GRCm39) |
Y1992F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,721,981 (GRCm39) |
Y3788C |
unknown |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,700,066 (GRCm39) |
N525S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,046,599 (GRCm39) |
H1399R |
unknown |
Het |
| Mga |
T |
A |
2: 119,794,407 (GRCm39) |
V2697E |
possibly damaging |
Het |
| Msto1 |
T |
C |
3: 88,819,184 (GRCm39) |
T188A |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Or10d1 |
G |
T |
9: 39,483,800 (GRCm39) |
P252T |
probably damaging |
Het |
| Pbld1 |
A |
T |
10: 62,910,890 (GRCm39) |
K248* |
probably null |
Het |
| Pcdhb12 |
G |
A |
18: 37,570,474 (GRCm39) |
R540H |
probably benign |
Het |
| Pcx |
G |
T |
19: 4,652,039 (GRCm39) |
A96S |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,094,696 (GRCm39) |
I174V |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,211,422 (GRCm39) |
I193T |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,100,501 (GRCm39) |
H132Q |
probably damaging |
Het |
| Scrib |
C |
A |
15: 75,936,354 (GRCm39) |
D501Y |
probably damaging |
Het |
| Sdad1 |
C |
A |
5: 92,452,857 (GRCm39) |
R127L |
probably benign |
Het |
| Sh3bgrl3 |
T |
C |
4: 133,855,116 (GRCm39) |
D73G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,517 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
G |
A |
10: 89,428,758 (GRCm39) |
A261V |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,632 (GRCm39) |
I195F |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,928 (GRCm39) |
K809E |
possibly damaging |
Het |
| Tmem30c |
G |
A |
16: 57,086,855 (GRCm39) |
T316M |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,451 (GRCm39) |
T357A |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,900,868 (GRCm39) |
T574S |
probably damaging |
Het |
| Trappc3l |
G |
A |
10: 33,974,917 (GRCm39) |
C133Y |
probably damaging |
Het |
| Unk |
C |
T |
11: 115,938,640 (GRCm39) |
T81I |
probably damaging |
Het |
| Vamp1 |
G |
A |
6: 125,217,388 (GRCm39) |
R144K |
unknown |
Het |
| Wnt9b |
T |
C |
11: 103,624,487 (GRCm39) |
N101S |
probably damaging |
Het |
| Wwtr1 |
T |
A |
3: 57,369,945 (GRCm39) |
D390V |
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 |
|
|
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 |
|
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'- TCAATCCTGTCTCTTGTGAAGAC -3'
(R):5'- AAAGTGCCAACCGTTCTTCCC -3'
Sequencing Primer
(F):5'- GTGAAGACTATATACCATGTGTCACC -3'
(R):5'- AACCGTTCTTCCCTTTCAAGATATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation