Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Setdb2'

104264

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 #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 59402293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124696 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably benign
Transcript: ENSMUST00000095775

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350

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

probably benign
Transcript: ENSMUST00000161459

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Krt9	A	T	11: 100,191,437		probably null	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

Other mutations in Setdb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Setdb2	APN	14	59415792	missense	probably damaging	1.00
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
IGL02148: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

2014-01-21