Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Setdb2'

656449

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59413692 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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,110,343	S75C	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,576	E5G	probably benign	Het
5730559C18Rik	T	A	1: 136,225,477	N226Y	probably damaging	Het
Adam23	T	C	1: 63,528,798	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,276,883	E512D	probably damaging	Het
Ahnak	A	T	19: 9,005,453	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,927,164	Q198L	probably benign	Het
Apcdd1	T	A	18: 62,933,903	H29Q	possibly damaging	Het
Cdh16	T	A	8: 104,615,179	K755*	probably null	Het
Cdk6	T	G	5: 3,390,685	F80V	probably benign	Het
Chd1	T	C	17: 17,387,542	S451P	probably benign	Het
Chd6	A	G	2: 160,957,082	L2361P	probably damaging	Het
Chst8	A	G	7: 34,748,154	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,095,693	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,526,271	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,691,606	V1903D	probably damaging	Het
E2f2	A	G	4: 136,184,480		silent	Het
Eif4g3	T	A	4: 138,171,118	S902T	possibly damaging	Het
Emid1	G	T	11: 5,134,353	A152D	probably benign	Het
Fer1l6	T	A	15: 58,560,496	N297K	possibly damaging	Het
Fes	T	C	7: 80,383,154	D281G	probably null	Het
Frmpd2	T	C	14: 33,502,977	V133A	probably benign	Het
Fry	A	G	5: 150,445,907	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,794,707		probably null	Het
Gm1527	A	G	3: 28,920,600	T521A	probably damaging	Het
Gpr141	T	A	13: 19,751,843	H254L	probably benign	Het
Gpr160	A	G	3: 30,895,947	E56G	probably benign	Het
Grid2ip	T	G	5: 143,381,940		probably null	Het
Grin2a	A	G	16: 9,663,518	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,766,118	T94A	probably damaging	Het
Iqgap2	A	G	13: 95,635,570	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929	M856K	probably damaging	Het
Kirrel	T	C	3: 87,088,002		probably benign	Het
Lad1	T	C	1: 135,827,762	S259P	probably damaging	Het
Lalba	A	T	15: 98,482,111	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,839,537	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,139,658	T665A	probably benign	Het
Myh11	T	C	16: 14,224,003	I719V		Het
Nbl1	A	T	4: 139,085,521	C34S	probably damaging	Het
Ncapg	T	A	5: 45,687,388	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,433,652	T840A	possibly damaging	Het
Nrd1	T	C	4: 109,016,679	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,032,375	K395E	probably benign	Het
Nrip1	A	T	16: 76,292,061	N869K	possibly damaging	Het
Olfr1259	A	G	2: 89,943,372	F248L	probably benign	Het
Olfr237-ps1	T	A	6: 43,153,308	M1K	probably null	Het
Olfr285	A	T	15: 98,312,665	M295K	probably benign	Het
Otub2	G	T	12: 103,402,902		probably null	Het
Paxbp1	T	C	16: 91,037,415	D161G	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Per2	T	A	1: 91,433,448	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,749,416	V571E	probably damaging	Het
Prr7	C	A	13: 55,472,922	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,237,264	T464S	possibly damaging	Het
Rapgef2	A	G	3: 79,086,018	V721A	probably benign	Het
Rfx1	A	T	8: 84,092,850	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,161,196	A110D	possibly damaging	Het
Slc25a31	T	C	3: 40,724,920	I272T	probably damaging	Het
Smpd1	T	C	7: 105,555,313	V133A	probably benign	Het
Sorl1	T	C	9: 42,014,481	D1185G	probably damaging	Het
Spag6	T	A	2: 18,745,490	L449H	probably benign	Het
Sptb	C	A	12: 76,621,262	R687L	probably benign	Het
Sptbn5	A	T	2: 120,047,135	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 64,964,320	I188V	probably benign	Het
Tmem253	G	A	14: 52,019,251	V194M	probably benign	Het
Tph1	A	G	7: 46,653,749		silent	Het
Trak1	A	G	9: 121,451,667	E374G	probably damaging	Het
Trpv1	A	T	11: 73,254,767		probably null	Het
Trub2	T	C	2: 29,777,713	H305R	probably benign	Het
Ttn	A	G	2: 76,917,424	V4427A	probably benign	Het
Vasn	A	G	16: 4,648,296	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,036,173	I70F	probably benign	Het
Vps13c	A	T	9: 67,954,980	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,321,833	M144I	probably benign	Het
Zfp273	T	A	13: 67,825,951	N399K	probably benign	Het
Zfp976	T	A	7: 42,612,701	T572S	unknown	Het
Zmym4	A	G	4: 126,904,567	C756R	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCACCACTAAGCTTGGGAGG -3'
(R):5'- ATGGACTGGTGCTTCTTTCATATAG -3'

Sequencing Primer
(F):5'- CACTAAGCTTGGGAGGGCAGTC -3'
(R):5'- TTATGAACATAAGACGGCC -3'

Posted On

2020-11-18