Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Setdb1'

617424

Institutional Source

Beutler Lab

Gene Symbol

Setdb1

Ensembl Gene

ENSMUSG00000015697

Gene Name

SET domain, bifurcated 1

Synonyms

KMT1E, ESET

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95230836-95264513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95254396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 195 (D195V)

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: D195V

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

SMART Domains

Protein: ENSMUSP00000015841
Gene: ENSMUSG00000015697
AA Change: D195V

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: D195V

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

SMART Domains

Protein: ENSMUSP00000102788
Gene: ENSMUSG00000015697
AA Change: D195V

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: D195V

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

SMART Domains

Protein: ENSMUSP00000102789
Gene: ENSMUSG00000015697
AA Change: D195V

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: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,361,915 (GRCm39)	T1386S	probably benign	Het
AI661453	T	G	17: 47,777,161 (GRCm39)	S296A	unknown	Het
Ambp	G	T	4: 63,062,434 (GRCm39)	N268K	probably damaging	Het
Ankrd11	T	C	8: 123,614,332 (GRCm39)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 110,559,367 (GRCm39)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,455,904 (GRCm39)		probably null	Het
Aspa	A	C	11: 73,213,032 (GRCm39)	N103K	probably benign	Het
Bend7	G	A	2: 4,757,590 (GRCm39)	V211I	probably benign	Het
Bsn	A	G	9: 107,991,603 (GRCm39)	M1383T	probably benign	Het
Cad	G	T	5: 31,226,150 (GRCm39)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,723,358 (GRCm39)	L856S	probably damaging	Het
Cdh20	T	A	1: 109,988,838 (GRCm39)	S247T	probably benign	Het
Ces1b	A	G	8: 93,795,943 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm39)	V34E	unknown	Het
Clca3a2	A	T	3: 144,511,527 (GRCm39)	F623I	probably damaging	Het
Cope	T	G	8: 70,765,453 (GRCm39)	M217R	probably benign	Het
Crim1	T	A	17: 78,622,984 (GRCm39)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,760,486 (GRCm39)	I644N	probably damaging	Het
Cry1	G	A	10: 84,982,266 (GRCm39)	A360V	probably damaging	Het
Ctcfl	A	T	2: 172,960,559 (GRCm39)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,500,315 (GRCm39)	Q475*	probably null	Het
Cyp39a1	T	C	17: 44,057,468 (GRCm39)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,914,478 (GRCm39)	Q484L	probably benign	Het
Dnah1	A	G	14: 30,986,971 (GRCm39)	F3607S	probably damaging	Het
Dnali1	T	A	4: 124,959,323 (GRCm39)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,081,052 (GRCm39)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,596,570 (GRCm39)	A53S	probably benign	Het
Epcam	T	C	17: 87,953,736 (GRCm39)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm39)	I155V	possibly damaging	Het
Fgd6	A	T	10: 93,880,206 (GRCm39)	K353N	possibly damaging	Het
Glce	A	T	9: 61,967,873 (GRCm39)	M426K	probably benign	Het
Glmp	A	T	3: 88,233,827 (GRCm39)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,424,494 (GRCm39)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,058,800 (GRCm39)	H273L	probably benign	Het
Gzmg	T	A	14: 56,394,903 (GRCm39)	T122S	probably benign	Het
Hace1	T	C	10: 45,577,066 (GRCm39)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,937,682 (GRCm39)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,366,189 (GRCm39)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,517,010 (GRCm39)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,122,446 (GRCm39)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,486,678 (GRCm39)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,639,754 (GRCm39)	E740G	probably benign	Het
Lmod3	T	C	6: 97,225,260 (GRCm39)	D187G	probably benign	Het
Lsm3	C	T	6: 91,496,543 (GRCm39)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,413,599 (GRCm39)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,674,346 (GRCm39)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,822,242 (GRCm39)	R782Q	probably damaging	Het
Mical2	A	T	7: 111,902,974 (GRCm39)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,299,431 (GRCm39)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,476,192 (GRCm39)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,839,136 (GRCm39)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,515,113 (GRCm39)	N28D	probably benign	Het
Nprl2	A	C	9: 107,420,260 (GRCm39)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm39)	I88N	probably damaging	Het
Oas3	A	G	5: 120,895,031 (GRCm39)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,612,654 (GRCm39)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,247,412 (GRCm39)	Y187F	possibly damaging	Het
Pgc	A	G	17: 48,039,701 (GRCm39)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,321,683 (GRCm39)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,565 (GRCm39)	R46G		Het
Rrbp1	C	A	2: 143,798,712 (GRCm39)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,904,050 (GRCm39)	T676S	probably benign	Het
Slc12a8	A	G	16: 33,445,456 (GRCm39)	E450G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,105,533 (GRCm39)	V667E	unknown	Het
Slc39a3	T	C	10: 80,867,111 (GRCm39)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,722,766 (GRCm39)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,663,680 (GRCm39)	T53M	probably damaging	Het
Snx33	A	G	9: 56,832,624 (GRCm39)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,448,166 (GRCm39)	Q382*	probably null	Het
Sun3	C	A	11: 8,973,376 (GRCm39)	S167I	probably damaging	Het
Sycp2	A	G	2: 177,996,855 (GRCm39)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,888,955 (GRCm39)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 53,016,284 (GRCm39)	Q57*	probably null	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,265,102 (GRCm39)	I204N	probably damaging	Het
Usp4	A	G	9: 108,255,670 (GRCm39)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,566,848 (GRCm39)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Xpo6	G	A	7: 125,768,426 (GRCm39)	L94F	probably benign	Het
Zbtb11	A	G	16: 55,826,383 (GRCm39)	K804R	probably damaging	Het
Zfp616	A	G	11: 73,974,894 (GRCm39)	R479G	probably benign	Het
Zfp661	T	C	2: 127,419,844 (GRCm39)	T99A	probably benign	Het
Zfp839	A	T	12: 110,821,532 (GRCm39)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,046,765 (GRCm39)		probably null	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	95,245,910 (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
R8693:Setdb1	UTSW	3	95,249,041 (GRCm39)	missense	probably damaging	0.99
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'- TCTTGGGTGCAACATAGAAGAC -3'
(R):5'- TGGTCACAGAATTTCAGTTTCCTC -3'

Sequencing Primer
(F):5'- CTTGGGTGCAACATAGAAGACAAAAG -3'
(R):5'- ATGCAGTGCTGAGGTTCAAATCC -3'

Posted On

2020-01-23