Mutagenetix > Incidental Mutation

Incidental Mutation 'R1968:Setdb2'

219300

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

039981-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R1968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59419409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 153 (L153Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000111253] [ENSMUST00000161459]

AlphaFold

Q8C267

Predicted Effect

probably damaging
Transcript: ENSMUST00000095775
AA Change: L169Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: L169Q

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: ENSMUST00000111253

Predicted Effect

probably damaging
Transcript: ENSMUST00000161459
AA Change: L153Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: L153Q

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,322,199	L528Q	probably damaging	Het
Adam18	T	A	8: 24,646,447	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,411,500		probably null	Het
Aldh3b2	T	A	19: 3,980,705	M390K	probably benign	Het
Arhgap45	T	C	10: 80,027,702	I793T	probably damaging	Het
Arsb	A	G	13: 93,807,559	M253V	probably benign	Het
Atcay	T	C	10: 81,212,478	D258G	possibly damaging	Het
Atf1	G	T	15: 100,254,514		probably null	Het
Atp1a4	C	T	1: 172,240,164	E511K	probably benign	Het
Atp8a1	A	G	5: 67,667,657	V777A	probably benign	Het
Baz1a	T	C	12: 54,900,337	T1173A	possibly damaging	Het
Bdh2	A	T	3: 135,285,609	D15V	probably benign	Het
Cacna1e	T	C	1: 154,700,494	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,803,614	L387P	probably benign	Het
Cat	T	C	2: 103,484,989	E17G	probably benign	Het
Ccdc15	T	C	9: 37,347,795	I54M	probably benign	Het
Cdhr1	T	G	14: 37,079,725	I754L	probably benign	Het
Cep120	G	A	18: 53,723,241	T368I	probably benign	Het
Cep126	C	A	9: 8,100,908	D542Y	probably damaging	Het
Cep135	T	C	5: 76,624,747	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,420,811	S455R	possibly damaging	Het
Chd8	A	G	14: 52,220,993	M886T	probably damaging	Het
Ckap5	T	C	2: 91,586,343	S1098P	probably benign	Het
Clec4e	A	T	6: 123,283,574	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,359,296	R1107H	probably damaging	Het
Cramp1l	T	C	17: 24,964,939	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,112,795	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,737,276	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,389,548	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,373,172	T264S	probably benign	Het
Cyr61	T	C	3: 145,648,210	Y275C	probably damaging	Het
Daam2	G	A	17: 49,483,060	R390W	probably damaging	Het
Decr2	T	C	17: 26,083,079	S226G	probably benign	Het
Dennd6b	T	C	15: 89,190,341	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,859,644	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,164,119	L734*	probably null	Het
Dopey2	A	G	16: 93,782,419	N1690D	probably damaging	Het
Exoc5	A	G	14: 49,034,890	Y356H	probably benign	Het
Fut7	T	A	2: 25,425,726	V332D	probably benign	Het
Gm436	A	G	4: 144,670,623	Y180H	possibly damaging	Het
Gnas	T	C	2: 174,298,733	S232P	probably damaging	Het
Gramd4	A	G	15: 86,132,905	E522G	probably damaging	Het
Gys1	A	G	7: 45,443,546	T297A	probably damaging	Het
Herc4	T	C	10: 63,273,525	S180P	probably benign	Het
Hivep3	C	T	4: 120,096,238	P584S	possibly damaging	Het
Itpk1	G	T	12: 102,675,470		probably null	Het
Jmjd1c	A	T	10: 67,225,440	S1191C	probably damaging	Het
Lima1	T	C	15: 99,819,684	N147S	probably benign	Het
Lrmp	T	A	6: 145,169,773	S310T	probably damaging	Het
Map4k5	G	A	12: 69,818,492	T506I	probably damaging	Het
Mat1a	A	T	14: 41,111,034	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Mon2	A	G	10: 123,009,565	Y1413H	probably damaging	Het
Mpp3	C	A	11: 102,018,552		probably benign	Het
Mpp4	T	A	1: 59,144,802	I260F	probably damaging	Het
Myocd	C	A	11: 65,200,907	G70C	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Nckap5	T	A	1: 126,014,630	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,564,941	K707R	probably benign	Het
Npr3	A	G	15: 11,904,969	L224S	probably benign	Het
Olfr1036	T	A	2: 86,075,205	L155Q	probably damaging	Het
Olfr1153	T	A	2: 87,897,039	V280E	probably damaging	Het
Olfr821	A	G	10: 130,033,733	S36G	probably damaging	Het
Otof	C	T	5: 30,388,654	D467N	probably damaging	Het
Paxx	T	C	2: 25,460,628		probably benign	Het
Pcmt1	G	A	10: 7,640,710	R179*	probably null	Het
Phkb	T	A	8: 85,970,951	V463D	probably benign	Het
Prkcq	T	C	2: 11,245,397	V175A	probably damaging	Het
Rasl11b	T	G	5: 74,196,136	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,248,195		probably null	Het
Reck	T	A	4: 43,913,771		probably null	Het
Riox1	G	T	12: 83,951,382	D231Y	probably damaging	Het
Rlf	T	A	4: 121,148,420	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,095,548	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,945,573		noncoding transcript	Het
Scara5	T	C	14: 65,689,800	C49R	possibly damaging	Het
Serpini1	A	G	3: 75,614,478	D92G	probably benign	Het
Sh3rf3	C	T	10: 58,813,987	T138M	probably benign	Het
Shkbp1	C	T	7: 27,355,400		probably null	Het
Slc22a29	G	A	19: 8,218,343	P111S	probably benign	Het
Smarca1	A	G	X: 47,852,687	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,516	M1308L	probably damaging	Het
Spink5	A	G	18: 43,990,708	N354S	probably benign	Het
Srrm2	T	C	17: 23,821,491	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,588,666	I28N	probably damaging	Het
Sucla2	A	G	14: 73,593,679	T411A	probably damaging	Het
Tex38	A	C	4: 115,780,340	S89A	probably benign	Het
Tjp2	A	T	19: 24,111,073	D723E	probably damaging	Het
Tln2	A	T	9: 67,255,901	N1121K	probably damaging	Het
Tti1	T	C	2: 158,009,046	E91G	possibly damaging	Het
Wbp2	A	T	11: 116,082,365	M72K	possibly damaging	Het
Wdfy4	C	A	14: 33,106,044	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,359,372	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,414,092	K229R	probably damaging	Het
Zmat3	C	A	3: 32,360,982	D60Y	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
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

PCR Primer
(F):5'- GGTGATTCCGAGTCAACTGG -3'
(R):5'- TAATTGTCACCTTAGTGTGCAGTG -3'

Sequencing Primer
(F):5'- AGTATTGAAAGAGAAGTTGTCTGTG -3'
(R):5'- AGTGTGCAGTGTTTTTAAAAATGAAG -3'

Posted On

2014-08-25