Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Setdb1'

672467

Institutional Source

Beutler Lab

Gene Symbol

Setdb1

Ensembl Gene

ENSMUSG00000015697

Gene Name

SET domain, bifurcated 1

Synonyms

KMT1E, ESET

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95323525-95357202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95356060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 45 (D45V)

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: D45V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: D45V

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: D45V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: D45V

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: D45V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: D45V

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Setdb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Setdb1	APN	3	95338577	missense	probably damaging	1.00
IGL00915:Setdb1	APN	3	95346788	missense	probably damaging	1.00
IGL01339:Setdb1	APN	3	95338580	nonsense	probably null
IGL01710:Setdb1	APN	3	95338853	missense	probably damaging	1.00
IGL02795:Setdb1	APN	3	95327373	missense	probably damaging	1.00
IGL02824:Setdb1	APN	3	95339904	splice site	probably benign
IGL02838:Setdb1	APN	3	95337268	splice site	probably null
IGL03014:Setdb1	UTSW	3	95341415	missense	probably damaging	1.00
R0077:Setdb1	UTSW	3	95341451	missense	probably damaging	1.00
R0344:Setdb1	UTSW	3	95326131	unclassified	probably benign
R0367:Setdb1	UTSW	3	95349881	splice site	probably benign
R0374:Setdb1	UTSW	3	95324853	unclassified	probably benign
R0411:Setdb1	UTSW	3	95327686	missense	probably damaging	1.00
R0501:Setdb1	UTSW	3	95338829	missense	probably benign	0.00
R0521:Setdb1	UTSW	3	95338829	missense	probably benign	0.00
R0616:Setdb1	UTSW	3	95341798	missense	probably damaging	1.00
R0828:Setdb1	UTSW	3	95338860	missense	probably damaging	1.00
R0990:Setdb1	UTSW	3	95340265	missense	probably benign	0.00
R1263:Setdb1	UTSW	3	95327611	missense	probably damaging	0.99
R1297:Setdb1	UTSW	3	95349876	splice site	probably benign
R1497:Setdb1	UTSW	3	95327467	missense	probably benign	0.44
R2885:Setdb1	UTSW	3	95340195	missense	probably benign
R2907:Setdb1	UTSW	3	95327201	splice site	probably benign
R3236:Setdb1	UTSW	3	95338754	missense	probably damaging	0.99
R3237:Setdb1	UTSW	3	95338754	missense	probably damaging	0.99
R3972:Setdb1	UTSW	3	95341338	missense	probably damaging	1.00
R4260:Setdb1	UTSW	3	95327497	missense	probably damaging	0.96
R5284:Setdb1	UTSW	3	95327570	missense	probably damaging	1.00
R5484:Setdb1	UTSW	3	95337258	missense	probably damaging	1.00
R5955:Setdb1	UTSW	3	95338842	missense	probably damaging	1.00
R6542:Setdb1	UTSW	3	95340307	missense	probably damaging	1.00
R6610:Setdb1	UTSW	3	95328577	missense	probably damaging	1.00
R6632:Setdb1	UTSW	3	95324149	missense	probably damaging	1.00
R6785:Setdb1	UTSW	3	95326401	missense	probably benign	0.09
R7176:Setdb1	UTSW	3	95337147	critical splice donor site	probably null
R7250:Setdb1	UTSW	3	95354541	critical splice donor site	probably null
R7259:Setdb1	UTSW	3	95339913	missense	probably benign	0.08
R7282:Setdb1	UTSW	3	95338674	missense	probably damaging	1.00
R7497:Setdb1	UTSW	3	95341828	missense	probably damaging	1.00
R7553:Setdb1	UTSW	3	95346765	missense	probably damaging	1.00
R7921:Setdb1	UTSW	3	95326399	missense	possibly damaging	0.85
R8022:Setdb1	UTSW	3	95338599	missense	probably damaging	1.00
R8022:Setdb1	UTSW	3	95347085	missense	probably damaging	1.00
R8189:Setdb1	UTSW	3	95346711	missense	probably damaging	1.00
R8558:Setdb1	UTSW	3	95354668	missense	possibly damaging	0.88
R8693:Setdb1	UTSW	3	95341730	missense	probably damaging	0.99
R8940:Setdb1	UTSW	3	95356172	missense	probably benign
R9207:Setdb1	UTSW	3	95338802	missense	possibly damaging	0.82
R9509:Setdb1	UTSW	3	95354589	missense	possibly damaging	0.48
R9784:Setdb1	UTSW	3	95325862	missense	probably damaging	1.00
Z1177:Setdb1	UTSW	3	95338530	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTAGGACAATGACAACAAC -3'
(R):5'- AGAAATGGTGTGAGCCTCGG -3'

Sequencing Primer
(F):5'- GTCACTCCAAGGAGGACACAG -3'
(R):5'- AAATGGTGTGAGCCTCGGTTAGAG -3'

Posted On

2021-04-30