Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02108:Setdb2'

280024

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 #

IGL02108

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 55,872,311	I369M	probably damaging	Het
Aff1	T	G	5: 103,811,109		probably null	Het
Arid1a	G	T	4: 133,680,516	P2227T	unknown	Het
Atp12a	A	T	14: 56,384,068	D720V	possibly damaging	Het
Auh	T	C	13: 52,889,097		probably benign	Het
Bptf	C	A	11: 107,074,988	V1012L	probably benign	Het
Cbr1	T	C	16: 93,610,199	F268L	probably benign	Het
Ccdc190	A	G	1: 169,933,986	D219G	probably damaging	Het
Ccnb1	C	T	13: 100,781,157		probably null	Het
Cdh19	G	T	1: 110,889,731	S760R	probably benign	Het
Cecr2	G	A	6: 120,762,558		probably null	Het
Chid1	A	T	7: 141,532,928	M1K	probably null	Het
Dzank1	T	C	2: 144,506,223	T208A	probably benign	Het
Ecm2	T	A	13: 49,518,444	Y140*	probably null	Het
Enox2	A	G	X: 49,013,516	L533S	possibly damaging	Het
Fntb	A	G	12: 76,887,857	E167G	possibly damaging	Het
Gpihbp1	T	C	15: 75,597,612	V92A	probably benign	Het
Grsf1	C	T	5: 88,665,903	R329Q	probably benign	Het
Gtpbp4	T	A	13: 8,985,213	D370V	probably benign	Het
Hist1h2ab	T	C	13: 23,751,224	V31A	probably benign	Het
Klhl14	T	A	18: 21,557,920	Y491F	probably damaging	Het
Lamb3	A	T	1: 193,332,222	Q563L	probably damaging	Het
Lcn2	A	T	2: 32,387,605	L124Q	probably damaging	Het
Mbl1	T	C	14: 41,153,651	S21P	possibly damaging	Het
Myrip	G	A	9: 120,467,565		probably null	Het
Nmur2	T	C	11: 56,040,364	T174A	probably benign	Het
Odf1	C	A	15: 38,226,379	Y174*	probably null	Het
Olfr1024	A	T	2: 85,904,150	D301E	possibly damaging	Het
Olfr877	T	A	9: 37,854,938	V40E	possibly damaging	Het
Olfr969	A	T	9: 39,795,512	I46F	probably damaging	Het
Optn	A	G	2: 5,031,273	V466A	possibly damaging	Het
Pde9a	G	A	17: 31,461,693	S316N	probably benign	Het
Phf3	A	T	1: 30,829,951	I672K	probably damaging	Het
Pklr	A	T	3: 89,137,403	I63F	probably damaging	Het
Plet1	T	C	9: 50,499,087		probably benign	Het
Pp2d1	T	A	17: 53,515,405	D211V	probably damaging	Het
Ppp6r3	A	T	19: 3,492,494	W384R	probably damaging	Het
Prdm11	T	C	2: 92,975,703	I301V	probably damaging	Het
Prkar1a	C	T	11: 109,667,525	R357C	probably damaging	Het
Ptchd1	T	C	X: 155,573,552	T886A	probably damaging	Het
Ptpre	A	T	7: 135,659,102	E156V	possibly damaging	Het
Ptprq	T	C	10: 107,646,617	T1032A	probably damaging	Het
Rras2	A	G	7: 114,060,388	I47T	probably damaging	Het
Sh3rf3	T	A	10: 59,135,828	V826E	probably damaging	Het
Tmem127	T	A	2: 127,257,106	S132T	probably damaging	Het
Tnrc6c	C	A	11: 117,721,199	P221Q	probably benign	Het
Tstd3	A	T	4: 21,759,366		probably benign	Het
Usp46	T	G	5: 74,029,206	T55P	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
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

2015-04-16