Mutagenetix > Incidental Mutation

Incidental Mutation 'R0990:Setdb1'

97600

Institutional Source

Beutler Lab

Gene Symbol

Setdb1

Ensembl Gene

ENSMUSG00000015697

Gene Name

SET domain, bifurcated 1

Synonyms

KMT1E, ESET

MMRRC Submission

039110-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0990 (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 95340265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 440 (T440A)

Ref Sequence

ENSEMBL: ENSMUSP00000102789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015841
AA Change: T440A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: T440A

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: ENSMUST00000107170
AA Change: T440A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: T440A

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: T440A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: T440A

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: ENSMUST00000132468

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.1%
20x: 86.0%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 88,325,452	V916A	possibly damaging	Het
Ank2	T	C	3: 126,934,666	I759M	possibly damaging	Het
Arhgap32	A	G	9: 32,255,381	D438G	probably damaging	Het
Arhgef12	T	C	9: 42,972,381	Y1285C	probably benign	Het
Cfap65	A	G	1: 74,921,519	V764A	possibly damaging	Het
Cog8	T	A	8: 107,052,487		probably null	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Fbxo24	T	C	5: 137,618,439	N394S	probably damaging	Het
Gm9938	A	G	19: 23,724,592		probably benign	Het
Iars2	A	G	1: 185,318,627	F422L	probably damaging	Het
March3	A	T	18: 56,807,798	C87S	probably damaging	Het
Mettl2	T	A	11: 105,137,744	Y307*	probably null	Het
Mlh3	T	C	12: 85,267,765	D549G	probably benign	Het
Muc4	A	G	16: 32,752,722	T867A	probably benign	Het
Nup210l	A	T	3: 90,211,925	T1852S	probably benign	Het
Olfr1110	T	A	2: 87,135,742	H193L	possibly damaging	Het
Pdk4	A	T	6: 5,485,577	S371T	probably benign	Het
Pkm	A	G	9: 59,678,096	T454A	probably damaging	Het
Satb2	G	A	1: 56,850,184	S340F	probably damaging	Het
Scel	G	A	14: 103,581,832	V354I	possibly damaging	Het
Sgk1	T	C	10: 21,997,086	F230S	probably damaging	Het
Slc22a23	A	T	13: 34,195,467	I439N	probably damaging	Het
Slc9a5	G	A	8: 105,359,446	R615Q	probably damaging	Het
Smad1	T	A	8: 79,343,788	I374F	probably damaging	Het
Tgm4	A	G	9: 123,046,511	E143G	probably benign	Het
Vmn2r53	A	G	7: 12,581,502	S797P	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
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
R8812:Setdb1	UTSW	3	95356060	missense	probably damaging	1.00
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'- AGGCTTCAGAAGGTACTGGTGGTAA -3'
(R):5'- TGTGTAGTCAGAGGACCATCTCAGC -3'

Sequencing Primer
(F):5'- CTTACTCAGTGTCAGCTGCT -3'
(R):5'- ctctgttctccctcctatttcc -3'

Posted On

2014-01-05