Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02113:Setdb2'

280243

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

Is this an essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

IGL02113

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,110,478	H726L	possibly damaging	Het
Aqr	A	T	2: 114,120,027	Y900*	probably null	Het
Atp11a	G	T	8: 12,865,048	R1155S	probably benign	Het
Bahd1	A	G	2: 118,917,205	D435G	probably benign	Het
Brca2	A	G	5: 150,540,979	T1403A	possibly damaging	Het
Cc2d2a	T	A	5: 43,685,248		probably null	Het
Cog7	A	G	7: 121,925,480	I697T	probably damaging	Het
Dclre1a	A	G	19: 56,541,532	V791A	probably damaging	Het
Dgki	A	G	6: 36,913,625		probably benign	Het
Dpyd	A	G	3: 118,999,219	Y525C	probably benign	Het
Eepd1	T	C	9: 25,482,713	L91P	probably damaging	Het
Foxf1	T	A	8: 121,084,565	L56H	probably damaging	Het
Fry	A	T	5: 150,399,605	M1074L	probably benign	Het
Gbx1	T	C	5: 24,504,876	T324A	probably damaging	Het
Gfpt1	T	A	6: 87,087,367	N646K	probably benign	Het
Gm10258	C	T	3: 30,268,393		probably benign	Het
Gm12887	T	C	4: 121,616,495	M53V	probably benign	Het
Hoxa11	C	T	6: 52,245,317	G135S	probably damaging	Het
Mettl6	A	T	14: 31,482,831	Y211*	probably null	Het
Moxd2	T	C	6: 40,885,404	I160M	probably benign	Het
Mphosph10	G	A	7: 64,376,807		probably benign	Het
Mrpl19	T	A	6: 81,965,915	M5L	probably benign	Het
Nbea	A	G	3: 55,992,492	V1412A	probably benign	Het
Nceh1	G	T	3: 27,222,891	S121I	probably damaging	Het
Ntan1	A	G	16: 13,835,144	T217A	probably damaging	Het
Ogfod1	C	T	8: 94,064,213	A504V	probably damaging	Het
Olfr584	A	T	7: 103,085,850	I111L	possibly damaging	Het
Pde3b	G	A	7: 114,526,906	V792M	probably damaging	Het
Pde9a	A	T	17: 31,459,970	M262L	probably benign	Het
Pi4ka	A	G	16: 17,373,415	V206A	probably benign	Het
Pkp1	A	T	1: 135,883,914	N406K	possibly damaging	Het
Rcn3	A	G	7: 45,083,338	I302T	probably damaging	Het
Rfx6	A	G	10: 51,678,012	Q68R	probably benign	Het
Rpgrip1	A	G	14: 52,133,844	D340G	possibly damaging	Het
Scn10a	C	T	9: 119,609,890	G1638S	probably damaging	Het
Serpinb9f	A	T	13: 33,334,468	H317L	probably damaging	Het
Slc40a1	A	G	1: 45,910,894	I466T	probably benign	Het
Smyd2	A	T	1: 189,882,217	S371R	probably damaging	Het
Snap47	A	C	11: 59,428,436	I292S	probably damaging	Het
Tbx4	A	G	11: 85,912,264	E322G	possibly damaging	Het
Tg	A	G	15: 66,705,330	T1501A	probably benign	Het
Tmem259	A	G	10: 79,978,709	V300A	probably benign	Het
Usp7	A	G	16: 8,716,513		probably null	Het
Vmn2r94	G	T	17: 18,257,675	T158K	probably damaging	Het
Vmn2r95	G	T	17: 18,439,907	A194S	possibly damaging	Het
Zfp944	A	T	17: 22,339,066	I400N	possibly damaging	Het
Zmynd12	T	A	4: 119,433,997	I53K	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
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
X0017:Setdb2	UTSW	14	59419468	missense	probably damaging	1.00

Posted On

2015-04-16