Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Setdb1'

453302

Institutional Source

Beutler Lab

Gene Symbol

Setdb1

Ensembl Gene

ENSMUSG00000015697

Gene Name

SET domain, bifurcated 1

Synonyms

KMT1E, ESET

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03014 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

95323525-95357202 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95341415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 397 (P397S)

Ref Sequence

ENSEMBL: ENSMUSP00000102788 (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: P397S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: P397S

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: P397S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: P397S

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: P397S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: P397S

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

Meta Mutation Damage Score

0.1507

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,431,608	*675Q	probably null	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
AW112010	A	G	19: 11,048,092		noncoding transcript	Het
BC003331	C	A	1: 150,383,053		probably benign	Het
Ccdc134	T	C	15: 82,130,105	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,290,702	V395F	probably damaging	Het
Cdh22	G	T	2: 165,112,411	S730*	probably null	Het
Chrng	G	T	1: 87,211,037		probably null	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Csmd2	G	T	4: 128,296,429	M387I	probably benign	Het
Cux1	T	C	5: 136,565,525		probably benign	Het
D130043K22Rik	C	T	13: 24,858,092	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,197,369		probably benign	Het
Dock11	G	T	X: 36,047,046		probably benign	Het
Dsn1	A	T	2: 156,996,819	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,926,218	Y461C	probably damaging	Het
Efl1	A	G	7: 82,651,886	T33A	probably damaging	Het
Fbln2	T	C	6: 91,265,919		probably benign	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Hecw1	T	A	13: 14,245,808	Y1010F	probably damaging	Het
Igha	A	G	12: 113,259,093	V236A	unknown	Het
Igsf9b	T	C	9: 27,322,636	M377T	probably benign	Het
Itga9	A	G	9: 118,628,144	T108A	probably benign	Het
Kcna3	A	T	3: 107,037,890	M490L	probably benign	Het
Lama3	A	T	18: 12,539,967	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,774,029		probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Olfr33	A	T	7: 102,713,546	V289E	probably null	Het
Olfr43	G	A	11: 74,206,827	L130F	probably damaging	Het
Pex10	A	G	4: 155,070,619		probably benign	Het
Plcl2	G	A	17: 50,611,001	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,607,337	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,248,688	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,104,895	I41V	probably benign	Het
Scpep1	T	A	11: 88,933,445		probably null	Het
Sergef	T	C	7: 46,590,756	T288A	probably damaging	Het
Setx	T	A	2: 29,139,411	D230E	probably damaging	Het
Sin3a	C	A	9: 57,095,255		probably benign	Het
Smad5	T	C	13: 56,735,941	L380P	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Stard9	A	T	2: 120,702,194		probably benign	Het
Tek	A	G	4: 94,827,263	D346G	probably benign	Het
Trav7d-4	T	A	14: 52,769,896	W12R	unknown	Het
Trmt1l	G	T	1: 151,457,930	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,239,224	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,669,784	I246F	possibly damaging	Het
Zfp618	A	T	4: 63,080,088	Q109L	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
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
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'- TTGCTCTGGTAAATAAAAGGACAGC -3'
(R):5'- AGCCTAGTCAGGATCCTCTTTC -3'

Sequencing Primer
(F):5'- CAGCTGCAATACATAATTTTCTGTGC -3'
(R):5'- GTTAACTGTGGAAAGACACTTGCTG -3'

Posted On

2017-02-01