Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Setdb2'

374777

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59639458-59678329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59646715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 616 (I616T)

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: I616T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: I616T

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: I600T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: I600T

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	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
R4816:Setdb2	UTSW	14	59,651,095 (GRCm39)	missense	probably benign	0.05
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'- TTAGCAGCAGGAATTAAACATCAGG -3'
(R):5'- TTCTGAAGACACACAGCTGAC -3'

Sequencing Primer
(F):5'- GGAAACAACACACATGTCCTG -3'
(R):5'- TCAGACGTGATAGATATAACTGCAAG -3'

Posted On

2016-03-17