Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Setdb2'

577190

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 #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59423345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 116 (C116*)

Ref Sequence

ENSEMBL: ENSMUSP00000106884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000111253] [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 null
Transcript: ENSMUST00000111253
AA Change: C116*

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: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,007,423	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,781,208	Q1673L		Het
Atic	G	T	1: 71,563,787	V107L	probably benign	Het
B2m	A	G	2: 122,150,935	N44D	probably damaging	Het
Bud13	A	G	9: 46,298,501	D636G	probably damaging	Het
Cenpk	T	C	13: 104,249,517	*307Q	probably null	Het
Cep68	A	G	11: 20,239,438	S525P	probably benign	Het
Clca1	A	G	3: 145,027,432	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,292,349	M630L	probably benign	Het
Cpb2	A	G	14: 75,283,342	Y399C	probably damaging	Het
Dars2	G	T	1: 161,046,884	P412T	possibly damaging	Het
E2f8	A	T	7: 48,868,179	I665N	probably damaging	Het
Epha4	A	T	1: 77,387,916	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 58,048,067		probably benign	Het
Flrt3	T	C	2: 140,660,467	T414A	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Fosb	T	C	7: 19,307,274	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,773,543	L174S	probably damaging	Het
Hectd3	T	A	4: 116,996,927	V258E	possibly damaging	Het
Inf2	T	A	12: 112,605,387	W617R	unknown	Het
Irf7	T	A	7: 141,263,686	I358F	probably damaging	Het
Lipo3	A	G	19: 33,558,263		probably null	Het
Lrig2	A	T	3: 104,497,513	L93*	probably null	Het
Lzts1	C	T	8: 69,135,679	V542M	probably damaging	Het
Mefv	T	A	16: 3,715,522	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nat8f6	G	C	6: 85,809,130	S12R	probably benign	Het
Nipal4	G	T	11: 46,166,235	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,092,596	C824*	probably null	Het
Npat	T	C	9: 53,548,910	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,510,694	E549G	probably damaging	Het
Olfr1120	T	A	2: 87,358,100	L219I	possibly damaging	Het
Olfr1253	T	C	2: 89,752,759	K23R	probably benign	Het
Olfr1318	A	T	2: 112,156,715	I255F	probably damaging	Het
Olfr1347	C	A	7: 6,487,920	W311L	probably benign	Het
Olfr398	T	C	11: 73,983,750	N286S	probably damaging	Het
Olfr476	T	A	7: 107,967,604	V69E	probably damaging	Het
Olfr713	T	C	7: 107,036,347	L64P	probably damaging	Het
Olfr779	T	C	10: 129,311,690	M61T	probably benign	Het
Pcdhb11	T	A	18: 37,422,619	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,309,452	L605P	probably damaging	Het
Pced1a	G	T	2: 130,422,059	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,427,142	S623*	probably null	Het
Pgr	T	C	9: 8,946,882	L708P	probably damaging	Het
Pnpla1	T	C	17: 28,878,481	I207T	possibly damaging	Het
Prkag3	A	T	1: 74,747,266	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,517	F270L	probably benign	Het
Ptdss2	C	A	7: 141,153,084	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,047,407	N309I	probably damaging	Het
Rgs12	T	C	5: 35,025,943	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,440,843	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,243,314	P7S	probably damaging	Het
Rnf24	T	C	2: 131,313,295	D4G	probably damaging	Het
Ryr2	T	A	13: 11,555,463	I4925L	probably benign	Het
S1pr5	A	T	9: 21,245,082	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,744,141	D75G	possibly damaging	Het
Sh3rf2	G	A	18: 42,101,539	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,727,193	V843I	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Tecrl	T	A	5: 83,355,068		probably benign	Het
Tex15	T	A	8: 33,576,562	S2007T	possibly damaging	Het
Tomm7	C	A	5: 23,844,157		probably benign	Het
Trpv1	A	C	11: 73,244,204	N409T	possibly damaging	Het
Try5	T	A	6: 41,311,365	Y218F	probably benign	Het
Tspan5	A	T	3: 138,898,122	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,251,948	C709*	probably null	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
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

PCR Primer
(F):5'- ACAAAGCTTCGCCTCATATTTGC -3'
(R):5'- TGGGCAGAATTTCTAGTCAGTG -3'

Sequencing Primer
(F):5'- GCTATTTTACAGGATGATGTAGACAC -3'
(R):5'- AACTTTGTATTTCTGTTGCTCCTG -3'

Posted On

2019-10-07