Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Setdb1'

151644

Institutional Source

Beutler Lab

Gene Symbol

Setdb1

Ensembl Gene

ENSMUSG00000015697

Gene Name

SET domain, bifurcated 1

Synonyms

KMT1E, ESET

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95323525-95357202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95327611 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 927 (N927S)

Ref Sequence

ENSEMBL: ENSMUSP00000102788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015841] [ENSMUST00000015858] [ENSMUST00000107170] [ENSMUST00000107171]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015841
AA Change: N927S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: N927S

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: N927S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: N927S

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: N926S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: N926S

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

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	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
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
Z1177:Setdb1	UTSW	3	95338530	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAGATGCAGCTTTGTACCTCC -3'
(R):5'- TTCTCAGGCAAAATCCTGACAGATGAC -3'

Sequencing Primer
(F):5'- CCTTGAAGCTCAATCCTGAGGTAG -3'
(R):5'- CAAAATCCTGACAGATGACTTTGC -3'

Posted On

2014-01-29