Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02117:Setdb2'

280427

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 #

IGL02117

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,473,546	M71L	probably benign	Het
Abcb11	A	G	2: 69,323,825		probably benign	Het
Ago4	T	C	4: 126,516,852	T249A	probably benign	Het
Ahr	A	T	12: 35,512,923	C92*	probably null	Het
Arhgap17	G	A	7: 123,286,773		probably benign	Het
Arid1a	G	T	4: 133,692,815	T992K	unknown	Het
Camk2a	A	G	18: 60,977,989	I83M	probably damaging	Het
Ccdc154	T	C	17: 25,167,818		probably null	Het
Chtf18	T	C	17: 25,722,203	H607R	possibly damaging	Het
Col25a1	T	C	3: 130,519,773		probably benign	Het
Col9a1	C	T	1: 24,237,493	Q530*	probably null	Het
Cryl1	G	T	14: 57,286,447	D219E	probably damaging	Het
Cul3	A	T	1: 80,323,064		probably benign	Het
Cul9	C	A	17: 46,540,375	R373L	probably benign	Het
Exo1	A	G	1: 175,893,743	Y316C	possibly damaging	Het
Fam114a1	G	A	5: 65,030,122	V408M	probably benign	Het
Hmcn2	A	T	2: 31,457,173	S4792C	possibly damaging	Het
Hps5	A	G	7: 46,783,516	F260S	probably damaging	Het
Hrh4	T	C	18: 13,022,420	S339P	probably benign	Het
Ist1	A	T	8: 109,678,952	L152Q	probably damaging	Het
Marco	A	G	1: 120,490,954	V190A	probably benign	Het
Mdn1	T	C	4: 32,709,364	V1711A	probably benign	Het
Mmp9	A	G	2: 164,949,724	Y179C	probably damaging	Het
Mrgprb5	A	G	7: 48,168,994		probably benign	Het
Mrgprx1	G	T	7: 48,021,623	C125*	probably null	Het
Msh6	A	G	17: 87,990,806		probably benign	Het
Myot	C	A	18: 44,355,110	R441S	probably benign	Het
Olfr740	A	G	14: 50,453,942	R297G	possibly damaging	Het
Paf1	A	G	7: 28,398,690		probably benign	Het
Pde11a	A	G	2: 75,991,262	L891P	probably damaging	Het
Prkar2a	T	A	9: 108,719,261	I135N	probably damaging	Het
Rap1gap	C	T	4: 137,727,044	T646M	probably damaging	Het
Rgs7bp	T	C	13: 104,951,579	D229G	possibly damaging	Het
Rhobtb3	C	T	13: 75,877,428	S523N	probably damaging	Het
Setd7	A	T	3: 51,521,405	Y335N	probably damaging	Het
Socs4	T	C	14: 47,290,807	Y400H	probably damaging	Het
Spag16	A	T	1: 69,870,320	H192L	probably damaging	Het
Ssh1	A	T	5: 113,946,480	C566*	probably null	Het
Stap1	T	G	5: 86,086,693	I98S	possibly damaging	Het
Tgs1	C	T	4: 3,585,836	H238Y	probably damaging	Het
Tifab	T	C	13: 56,176,462	Y56C	probably benign	Het
Tssk2	A	G	16: 17,899,789	E352G	probably benign	Het
Vmn2r57	A	T	7: 41,400,450	V625D	probably benign	Het
Wbp1l	T	C	19: 46,644,437	Y75H	probably benign	Het
Wnt5a	T	C	14: 28,506,120		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
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
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

2015-04-16