Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02148:Setdb2'

281849

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59402315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 709 (R709Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000161459]

AlphaFold

Q8C267

Predicted Effect

probably damaging
Transcript: ENSMUST00000095775
AA Change: R709Q

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

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: R709Q

Domain	Start	End	E-Value	Type
Pfam:MBD	164	236	3.4e-10	PFAM
Pfam:Pre-SET	250	362	1.7e-17	PFAM
SET	370	694	9.33e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159640

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161459
AA Change: R693Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: R693Q

Domain	Start	End	E-Value	Type
Pfam:MBD	148	220	2.7e-9	PFAM
Pfam:Pre-SET	233	346	1.3e-19	PFAM
SET	354	678	9.33e-32	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit altered response to infection and improved patology following superinfection of influenza virus-infected mice with S. pneumonia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	A	T	13: 98,984,183	F112I	probably damaging	Het
Akna	C	T	4: 63,382,479		probably benign	Het
AU040320	T	C	4: 126,839,676	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,198,958	D355G	probably damaging	Het
Cdyl2	A	G	8: 116,589,244		probably benign	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
D430042O09Rik	A	T	7: 125,873,476		probably null	Het
Dclk1	T	A	3: 55,500,099	V233D	probably damaging	Het
Ddx59	T	C	1: 136,433,827	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,511,828		probably benign	Het
Epha2	T	C	4: 141,318,524	L453P	probably damaging	Het
Esco2	T	C	14: 65,826,595	H380R	probably benign	Het
Fbxo38	T	C	18: 62,536,227	M51V	probably benign	Het
Fgb	T	C	3: 83,043,287	M387V	probably damaging	Het
Fryl	A	G	5: 73,075,959	L1522S	probably benign	Het
Gdf9	T	A	11: 53,436,742	M175K	probably benign	Het
Gm13023	T	A	4: 143,792,734	Y22N	probably benign	Het
Gm20547	C	T	17: 34,860,548	D243N	probably benign	Het
Gramd1b	T	A	9: 40,315,764	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,923,499	Q186K	possibly damaging	Het
Kcnh5	A	G	12: 74,897,652	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,812,387	D221G	possibly damaging	Het
Med19	T	C	2: 84,685,259	F96L	probably damaging	Het
Mei1	C	A	15: 82,092,711	S589*	probably null	Het
Myh15	G	T	16: 49,116,315	D708Y	probably damaging	Het
Naca	C	T	10: 128,043,884		probably benign	Het
Olfr1173	A	T	2: 88,274,222	Y276N	possibly damaging	Het
Otog	G	A	7: 46,300,587	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,696,072	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,579,836	T369I	probably damaging	Het
Plekha8	A	G	6: 54,615,286	S32G	probably damaging	Het
Sema4g	A	G	19: 44,996,469	T113A	probably damaging	Het
Sh3rf3	T	C	10: 59,086,740	M546T	probably benign	Het
Slc27a5	A	G	7: 12,994,951	V328A	probably damaging	Het
Spef1	T	C	2: 131,172,768	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388	T179A	probably damaging	Het
Tmc5	T	C	7: 118,645,324	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488	Y621C	probably damaging	Het
Ttf1	T	C	2: 29,079,426	F727L	probably benign	Het
Tufm	T	C	7: 126,489,160	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,201,074	D146E	probably damaging	Het
Usp15	G	A	10: 123,127,837	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,787,822	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,592,225	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,619,032	C825G	probably damaging	Het
Zfp712	T	A	13: 67,042,158	I102F	probably damaging	Het

Other mutations in Setdb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Setdb2	APN	14	59415792	missense	probably damaging	1.00
IGL01695:Setdb2	APN	14	59402293	utr 3 prime	probably benign
IGL01720:Setdb2	APN	14	59423436	missense	possibly damaging	0.76
IGL02003:Setdb2	APN	14	59413490	missense	probably damaging	0.98
IGL02023:Setdb2	APN	14	59431158	missense	probably damaging	1.00
IGL02108:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02113:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02114:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02115:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02116:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02117:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02141:Setdb2	APN	14	59402315	missense	probably damaging	1.00
R0419:Setdb2	UTSW	14	59406744	splice site	probably null
R0610:Setdb2	UTSW	14	59417470	missense	possibly damaging	0.55
R0636:Setdb2	UTSW	14	59406704	missense	probably benign	0.40
R0890:Setdb2	UTSW	14	59419220	missense	possibly damaging	0.89
R0931:Setdb2	UTSW	14	59423496	splice site	probably benign
R1355:Setdb2	UTSW	14	59417441	missense	probably damaging	1.00
R1553:Setdb2	UTSW	14	59417485	missense	probably benign	0.04
R1968:Setdb2	UTSW	14	59419409	missense	probably damaging	1.00
R2472:Setdb2	UTSW	14	59419454	missense	possibly damaging	0.49
R2894:Setdb2	UTSW	14	59426467	missense	probably benign	0.00
R3919:Setdb2	UTSW	14	59419167	missense	probably damaging	1.00
R4609:Setdb2	UTSW	14	59415704	missense	probably damaging	1.00
R4629:Setdb2	UTSW	14	59409359	missense	probably benign	0.13
R4816:Setdb2	UTSW	14	59413646	missense	probably benign	0.05
R4864:Setdb2	UTSW	14	59409266	missense	probably benign	0.01
R4951:Setdb2	UTSW	14	59402303	missense	possibly damaging	0.72
R5040:Setdb2	UTSW	14	59415707	missense	probably damaging	0.99
R5245:Setdb2	UTSW	14	59426494	missense	probably null	0.00
R5358:Setdb2	UTSW	14	59409436	missense	probably benign	0.17
R5656:Setdb2	UTSW	14	59419118	missense	probably damaging	1.00
R5705:Setdb2	UTSW	14	59423365	missense	possibly damaging	0.80
R6103:Setdb2	UTSW	14	59409532	splice site	probably null
R6106:Setdb2	UTSW	14	59423449	nonsense	probably null
R6388:Setdb2	UTSW	14	59424697	missense	probably benign
R6431:Setdb2	UTSW	14	59419056	missense	probably damaging	1.00
R6494:Setdb2	UTSW	14	59402414	missense	probably benign	0.12
R6971:Setdb2	UTSW	14	59415740	missense	probably damaging	1.00
R7442:Setdb2	UTSW	14	59419251	missense	probably damaging	0.99
R7444:Setdb2	UTSW	14	59423345	nonsense	probably null
R7759:Setdb2	UTSW	14	59419364	missense	probably damaging	1.00
R8021:Setdb2	UTSW	14	59423384	nonsense	probably null
R8039:Setdb2	UTSW	14	59402375	missense	probably damaging	1.00
R8261:Setdb2	UTSW	14	59413692	splice site	probably benign
R8393:Setdb2	UTSW	14	59412731	missense	probably benign	0.04
R8513:Setdb2	UTSW	14	59402390	missense	probably damaging	1.00
R8700:Setdb2	UTSW	14	59417439	missense	probably damaging	1.00
R8707:Setdb2	UTSW	14	59423458	nonsense	probably null
R8940:Setdb2	UTSW	14	59409507	missense	probably damaging	1.00
R9217:Setdb2	UTSW	14	59409432	missense	possibly damaging	0.61
R9314:Setdb2	UTSW	14	59412791	missense	probably benign	0.02
R9336:Setdb2	UTSW	14	59423367	missense	unknown
R9442:Setdb2	UTSW	14	59402400	missense	probably damaging	1.00
R9525:Setdb2	UTSW	14	59409392	missense	probably benign	0.00
R9743:Setdb2	UTSW	14	59413553	missense	probably benign	0.00
X0017:Setdb2	UTSW	14	59419468	missense	probably damaging	1.00

Posted On

2015-04-16