Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Setdb2'

280329

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: 0.562) question?

Stock #

IGL02115

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	A	T	7: 125,331,609		noncoding transcript	Het
Abca7	A	T	10: 79,998,079	N76Y	probably damaging	Het
Apob	A	G	12: 7,992,923	K755R	probably benign	Het
BC034090	A	T	1: 155,232,651		probably benign	Het
Brinp1	T	C	4: 68,762,398	T632A	probably benign	Het
Cdcp1	C	A	9: 123,185,397	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,589,904		probably null	Het
Ckb	A	G	12: 111,669,981	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,807,651	I759L	probably damaging	Het
Ddr2	A	T	1: 169,994,709	M390K	probably benign	Het
Dhx8	C	T	11: 101,752,388	P762L	probably damaging	Het
Dnah3	A	T	7: 120,029,054	V1449E	probably damaging	Het
Dzip3	T	C	16: 48,948,485	I629M	probably benign	Het
Ep300	T	C	15: 81,648,818	I1692T	unknown	Het
Ercc6	T	A	14: 32,576,993	L1446Q	probably damaging	Het
Gm10092	T	C	16: 36,137,623		noncoding transcript	Het
Gm6900	A	T	7: 10,656,576		noncoding transcript	Het
Gpr149	T	C	3: 62,594,915	T507A	probably benign	Het
Hmcn1	T	A	1: 150,630,728	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,220,122	E225G	probably benign	Het
Kif14	T	C	1: 136,496,567		probably benign	Het
Klhl22	T	C	16: 17,776,595	V196A	probably damaging	Het
Lig4	T	C	8: 9,973,247	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,026,370		probably benign	Het
Mcoln3	C	T	3: 146,137,301	S380L	probably damaging	Het
Med12l	A	T	3: 59,068,319	T223S	probably benign	Het
Mrpl54	A	G	10: 81,265,649		probably null	Het
Myo1c	A	T	11: 75,661,591	I397F	probably damaging	Het
Nbas	A	T	12: 13,317,692		probably benign	Het
Ncoa2	G	A	1: 13,152,817	H1195Y	probably damaging	Het
Nol3	A	G	8: 105,279,631	M171V	probably benign	Het
Olfr167	A	T	16: 19,515,103	C178S	probably damaging	Het
Olfr593	A	G	7: 103,212,474	T194A	probably damaging	Het
Pdpr	C	T	8: 111,103,998	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,739,318		probably benign	Het
Rusc2	T	C	4: 43,426,136		probably benign	Het
Sdk2	G	T	11: 113,834,813		probably benign	Het
Sema7a	T	C	9: 57,960,900	C539R	probably damaging	Het
Senp6	T	C	9: 80,121,926	C524R	probably damaging	Het
Slc15a1	A	T	14: 121,480,661	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,017,590	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,875,803	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,625,029	D773G	probably damaging	Het
Ttc39a	A	G	4: 109,426,294		probably benign	Het
Tut1	C	T	19: 8,965,312	R588W	probably damaging	Het
Unc79	A	T	12: 102,998,674	Y74F	probably damaging	Het
Usp53	A	T	3: 122,947,390	I737K	probably benign	Het
Vmn2r67	A	T	7: 85,151,579	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,425,783	D426G	unknown	Het
Zfp622	A	G	15: 25,987,200	N308S	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
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

2015-04-16