Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Setdb2'

424202

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59409436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 559 (R559S)

Ref Sequence

ENSEMBL: ENSMUSP00000093450 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably benign
Transcript: ENSMUST00000095775
AA Change: R559S

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: R559S

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 benign
Transcript: ENSMUST00000161459
AA Change: R543S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: R543S

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

noncoding transcript
Transcript: ENSMUST00000161959

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,013,331	V1842A	probably damaging	Het
Abi3	A	T	11: 95,842,108	F13L	probably benign	Het
Adgre4	A	G	17: 55,818,758	K538R	probably benign	Het
Bcas3	C	T	11: 85,451,755	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,667,564	T376A	probably benign	Het
Ceacam18	C	A	7: 43,637,073	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,832,025	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,841,282		probably benign	Het
Chmp7	A	G	14: 69,721,235	V210A	probably benign	Het
Chrm2	A	G	6: 36,523,355	K49R	probably damaging	Het
Daam1	T	A	12: 71,952,459	L623*	probably null	Het
Ddx31	T	A	2: 28,863,770	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,547,172	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,746,954	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,129,695	R247H	probably damaging	Het
Exoc4	A	G	6: 33,265,999	E49G	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fam96b	T	C	8: 104,641,650	N14S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxj3	A	G	4: 119,619,399	E258G	probably damaging	Het
Gata4	C	T	14: 63,240,626	A175T	probably benign	Het
Helz2	C	T	2: 181,235,528	E1106K	probably damaging	Het
Hip1	G	T	5: 135,436,398	S385R	probably benign	Het
Igsf9	C	T	1: 172,484,511	T8I	probably benign	Het
Katnal2	A	G	18: 77,017,494	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 106,027,591	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,607,694	R570*	probably null	Het
Kif16b	T	A	2: 142,740,969	R545S	probably damaging	Het
Kif21b	T	A	1: 136,172,292	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,819,274		probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mknk2	T	C	10: 80,671,763	T60A	probably benign	Het
Ncoa6	T	C	2: 155,406,987	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,654,082	T109P	probably damaging	Het
Nup214	C	A	2: 32,017,146	S995Y	unknown	Het
Olfr448	A	T	6: 42,896,520	Q23L	probably benign	Het
Pclo	T	A	5: 14,712,736	L456*	probably null	Het
Pde5a	A	G	3: 122,748,176	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,323,544	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,061,963	N179S	possibly damaging	Het
Sf3b1	A	G	1: 55,003,310	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,735,174	W228L	probably benign	Het
Slc8a2	T	G	7: 16,157,303	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,660,044	I194L	unknown	Het
Smarcd1	C	T	15: 99,703,247	Q45*	probably null	Het
Srcap	T	G	7: 127,540,320	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330	N9Y	probably damaging	Het
St7	T	C	6: 17,819,318	S74P	probably damaging	Het
Stxbp5l	T	A	16: 37,174,326	E739V	probably damaging	Het
Sun3	T	A	11: 9,031,496	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,170,937	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,078,020	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,074,289	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,499,518	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,251,015		probably benign	Het
Trpm3	A	T	19: 22,925,968	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,401,331	K381E	probably benign	Het
Uaca	T	C	9: 60,871,148	V937A	probably benign	Het
Umod	C	T	7: 119,472,354	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,704,150		probably null	Het
Zfp644	G	A	5: 106,635,675	T1002I	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het
Zfp738	A	G	13: 67,671,012	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,508,263	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,567,703		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
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

PCR Primer
(F):5'- TCCTTACTGAGCTGCATCAGG -3'
(R):5'- CTGCCTACCTTAACATTTGGTAAAG -3'

Sequencing Primer
(F):5'- GAAGCAGATGGAATCTTTGTCCTCTC -3'
(R):5'- CCTTAACATTTGGTAAAGATTACTGC -3'

Posted On

2016-08-04