Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Setdb2'

36948

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

038621-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R0419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59406744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000095775] [ENSMUST00000095775] [ENSMUST00000095775] [ENSMUST00000161459] [ENSMUST00000161459]

AlphaFold

Q8C267

Predicted Effect

probably null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000159640

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,842		probably benign	Het
2210010C04Rik	T	C	6: 41,034,347	N34D	probably benign	Het
5730507C01Rik	A	T	12: 18,533,423	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,866,642	I735V	probably benign	Het
Arid1a	G	T	4: 133,681,124	P2024Q	unknown	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
B3galt4	T	C	17: 33,950,790	Y158C	probably damaging	Het
BC049715	A	G	6: 136,840,145	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,945,229	I11N	probably damaging	Het
Cfb	T	C	17: 34,858,509	I496V	probably damaging	Het
Chd8	A	T	14: 52,204,060	H858Q	probably benign	Het
Chrne	T	C	11: 70,615,723	I324V	probably benign	Het
Clec14a	T	C	12: 58,267,665	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,297,799	Y207C	probably damaging	Het
Cubn	A	C	2: 13,469,763	I410S	possibly damaging	Het
Cubn	T	A	2: 13,469,764	I410F	possibly damaging	Het
Dlc1	T	C	8: 36,583,586	E997G	possibly damaging	Het
Emilin1	G	T	5: 30,915,022	V71F	probably damaging	Het
Esrp2	T	C	8: 106,134,675	E164G	probably damaging	Het
Fars2	A	G	13: 36,537,311	T410A	probably benign	Het
Fat3	A	G	9: 15,992,256	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,326,136	T472I	probably benign	Het
Gm6871	A	G	7: 41,573,445	V73A	probably benign	Het
Gnl2	T	G	4: 125,053,527	S647R	probably benign	Het
Grb10	T	C	11: 11,934,207	I500V	possibly damaging	Het
Herc1	T	C	9: 66,446,074		probably benign	Het
Iqgap2	A	C	13: 95,689,699		probably null	Het
Kcnu1	A	T	8: 25,937,618	N321I	probably benign	Het
Kif23	G	A	9: 61,926,405	R519*	probably null	Het
Klhl1	C	T	14: 96,381,789	R224Q	probably benign	Het
Lama1	T	C	17: 67,791,610		probably null	Het
Lamp3	T	C	16: 19,673,552	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,281,911	R88S	probably damaging	Het
Nbea	G	T	3: 55,819,294	A2088E	probably benign	Het
Neo1	A	G	9: 58,990,180		probably benign	Het
Ntn4	A	T	10: 93,682,429	R199S	probably benign	Het
Olfr1020	A	T	2: 85,849,967	R172*	probably null	Het
Plekho2	A	G	9: 65,557,052	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,180,763	Y129C	probably damaging	Het
Ralgapa2	A	T	2: 146,428,672	M578K	possibly damaging	Het
Ranbp3	C	T	17: 56,708,219	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,376,860	W185*	probably null	Het
Sirpb1b	A	T	3: 15,548,596	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,293	L397Q	probably damaging	Het
Slc19a1	T	A	10: 77,042,908	I355N	probably damaging	Het
Slc51a	T	A	16: 32,476,436	I275F	possibly damaging	Het
Spink14	T	C	18: 44,031,867	S84P	probably damaging	Het
Stx2	A	G	5: 128,993,577		probably benign	Het
Tgfbi	G	T	13: 56,632,193		probably benign	Het
Tshr	T	A	12: 91,537,869	M527K	probably damaging	Het
Upb1	T	C	10: 75,412,883	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,691,243		probably null	Het
Zfp11	C	T	5: 129,658,238	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,312,237	V32A	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
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
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

Predicted Primers

Posted On

2013-05-09