Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Setdb2'

369847

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59639458-59678329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59651095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 412 (T412I)

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: T412I

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

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: T412I

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: T396I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: T396I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Setdb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Setdb2	APN	14	59,653,241 (GRCm39)	missense	probably damaging	1.00
IGL01695:Setdb2	APN	14	59,639,742 (GRCm39)	utr 3 prime	probably benign
IGL01720:Setdb2	APN	14	59,660,885 (GRCm39)	missense	possibly damaging	0.76
IGL02003:Setdb2	APN	14	59,650,939 (GRCm39)	missense	probably damaging	0.98
IGL02023:Setdb2	APN	14	59,668,607 (GRCm39)	missense	probably damaging	1.00
IGL02108:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02113:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02114:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02115:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02116:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02117:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02141:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
IGL02148:Setdb2	APN	14	59,639,764 (GRCm39)	missense	probably damaging	1.00
R0419:Setdb2	UTSW	14	59,644,193 (GRCm39)	splice site	probably null
R0610:Setdb2	UTSW	14	59,654,919 (GRCm39)	missense	possibly damaging	0.55
R0636:Setdb2	UTSW	14	59,644,153 (GRCm39)	missense	probably benign	0.40
R0890:Setdb2	UTSW	14	59,656,669 (GRCm39)	missense	possibly damaging	0.89
R0931:Setdb2	UTSW	14	59,660,945 (GRCm39)	splice site	probably benign
R1355:Setdb2	UTSW	14	59,654,890 (GRCm39)	missense	probably damaging	1.00
R1553:Setdb2	UTSW	14	59,654,934 (GRCm39)	missense	probably benign	0.04
R1968:Setdb2	UTSW	14	59,656,858 (GRCm39)	missense	probably damaging	1.00
R2472:Setdb2	UTSW	14	59,656,903 (GRCm39)	missense	possibly damaging	0.49
R2894:Setdb2	UTSW	14	59,663,916 (GRCm39)	missense	probably benign	0.00
R3919:Setdb2	UTSW	14	59,656,616 (GRCm39)	missense	probably damaging	1.00
R4609:Setdb2	UTSW	14	59,653,153 (GRCm39)	missense	probably damaging	1.00
R4629:Setdb2	UTSW	14	59,646,808 (GRCm39)	missense	probably benign	0.13
R4864:Setdb2	UTSW	14	59,646,715 (GRCm39)	missense	probably benign	0.01
R4951:Setdb2	UTSW	14	59,639,752 (GRCm39)	missense	possibly damaging	0.72
R5040:Setdb2	UTSW	14	59,653,156 (GRCm39)	missense	probably damaging	0.99
R5245:Setdb2	UTSW	14	59,663,943 (GRCm39)	missense	probably null	0.00
R5358:Setdb2	UTSW	14	59,646,885 (GRCm39)	missense	probably benign	0.17
R5656:Setdb2	UTSW	14	59,656,567 (GRCm39)	missense	probably damaging	1.00
R5705:Setdb2	UTSW	14	59,660,814 (GRCm39)	missense	possibly damaging	0.80
R6103:Setdb2	UTSW	14	59,646,981 (GRCm39)	splice site	probably null
R6106:Setdb2	UTSW	14	59,660,898 (GRCm39)	nonsense	probably null
R6388:Setdb2	UTSW	14	59,662,146 (GRCm39)	missense	probably benign
R6431:Setdb2	UTSW	14	59,656,505 (GRCm39)	missense	probably damaging	1.00
R6494:Setdb2	UTSW	14	59,639,863 (GRCm39)	missense	probably benign	0.12
R6971:Setdb2	UTSW	14	59,653,189 (GRCm39)	missense	probably damaging	1.00
R7442:Setdb2	UTSW	14	59,656,700 (GRCm39)	missense	probably damaging	0.99
R7444:Setdb2	UTSW	14	59,660,794 (GRCm39)	nonsense	probably null
R7759:Setdb2	UTSW	14	59,656,813 (GRCm39)	missense	probably damaging	1.00
R8021:Setdb2	UTSW	14	59,660,833 (GRCm39)	nonsense	probably null
R8039:Setdb2	UTSW	14	59,639,824 (GRCm39)	missense	probably damaging	1.00
R8261:Setdb2	UTSW	14	59,651,141 (GRCm39)	splice site	probably benign
R8393:Setdb2	UTSW	14	59,650,180 (GRCm39)	missense	probably benign	0.04
R8513:Setdb2	UTSW	14	59,639,839 (GRCm39)	missense	probably damaging	1.00
R8700:Setdb2	UTSW	14	59,654,888 (GRCm39)	missense	probably damaging	1.00
R8707:Setdb2	UTSW	14	59,660,907 (GRCm39)	nonsense	probably null
R8940:Setdb2	UTSW	14	59,646,956 (GRCm39)	missense	probably damaging	1.00
R9217:Setdb2	UTSW	14	59,646,881 (GRCm39)	missense	possibly damaging	0.61
R9314:Setdb2	UTSW	14	59,650,240 (GRCm39)	missense	probably benign	0.02
R9336:Setdb2	UTSW	14	59,660,816 (GRCm39)	missense	unknown
R9442:Setdb2	UTSW	14	59,639,849 (GRCm39)	missense	probably damaging	1.00
R9525:Setdb2	UTSW	14	59,646,841 (GRCm39)	missense	probably benign	0.00
R9743:Setdb2	UTSW	14	59,651,002 (GRCm39)	missense	probably benign	0.00
X0017:Setdb2	UTSW	14	59,656,917 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTACTCACACAGCGGGCTC -3'
(R):5'- GACTGGTGCTTCTTTCATATAGC -3'

Sequencing Primer
(F):5'- GGGCTCTTTGAGATCACCACTAAG -3'
(R):5'- ATAAGACGGCCGCCCATTTG -3'

Posted On

2016-02-04