Mutagenetix > Incidental Mutation

Incidental Mutation 'R4609:Setdb2'

344544

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

041820-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59639458-59678329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59653153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 383 (Y383C)

Ref Sequence

ENSEMBL: ENSMUSP00000124696 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably damaging
Transcript: ENSMUST00000095775
AA Change: Y399C

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

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: Y399C

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 damaging
Transcript: ENSMUST00000161459
AA Change: Y383C

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

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: Y383C

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

0.9631

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,378,370 (GRCm39)	D91G	unknown	Het
Adam10	T	C	9: 70,647,425 (GRCm39)	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,469,235 (GRCm39)	C183S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bmp1	C	T	14: 70,715,406 (GRCm39)	V910M	probably benign	Het
Brdt	G	A	5: 107,507,802 (GRCm39)	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,578 (GRCm39)	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267 (GRCm39)	D71V	possibly damaging	Het
Chml	A	T	1: 175,514,723 (GRCm39)	Y399*	probably null	Het
Cilk1	T	A	9: 78,075,071 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,430,765 (GRCm39)		probably benign	Het
Cntnap5b	G	A	1: 99,700,572 (GRCm39)		probably null	Het
Cpvl	A	T	6: 53,951,605 (GRCm39)		probably null	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,346,255 (GRCm39)	Y226C	probably damaging	Het
Dio3	G	T	12: 110,246,444 (GRCm39)	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,353,796 (GRCm39)	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,495,816 (GRCm39)	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999 (GRCm39)	Y223*	probably null	Het
Dpysl4	T	C	7: 138,678,537 (GRCm39)	V499A	probably damaging	Het
Ets2	A	T	16: 95,512,818 (GRCm39)	K101N	probably benign	Het
Fbn2	A	T	18: 58,323,341 (GRCm39)	Y200*	probably null	Het
Fem1c	A	T	18: 46,639,015 (GRCm39)	I329N	probably damaging	Het
Fhip1b	A	G	7: 105,037,431 (GRCm39)	I384T	probably damaging	Het
Gm8919	T	C	3: 11,724,530 (GRCm39)		noncoding transcript	Het
H2-Q5	A	T	17: 35,616,056 (GRCm39)	H206L	probably benign	Het
Hexa	T	C	9: 59,464,602 (GRCm39)	F164S	probably benign	Het
Hk1	G	T	10: 62,194,194 (GRCm39)		probably benign	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,475,292 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,630 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,763,013 (GRCm39)	H650Q	probably damaging	Het
Mief1	C	A	15: 80,132,454 (GRCm39)	P112Q	probably benign	Het
Morc3	A	G	16: 93,661,856 (GRCm39)	E472G	probably benign	Het
Nap1l1	T	A	10: 111,328,741 (GRCm39)	Y223*	probably null	Het
Nfix	A	T	8: 85,453,119 (GRCm39)	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,869,510 (GRCm39)	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,724,912 (GRCm39)	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,117,173 (GRCm39)	Y299F	probably benign	Het
Nnt	T	C	13: 119,494,072 (GRCm39)	I556V	possibly damaging	Het
Oasl2	A	T	5: 115,037,857 (GRCm39)	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,305,393 (GRCm39)	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,847,733 (GRCm39)	V431L	probably damaging	Het
Or4d5	T	C	9: 40,012,102 (GRCm39)	H228R	possibly damaging	Het
Or5p79	A	T	7: 108,221,711 (GRCm39)	M231L	probably benign	Het
Palb2	G	T	7: 121,723,946 (GRCm39)	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,638,849 (GRCm39)	M458I	probably benign	Het
Pde11a	T	C	2: 76,121,585 (GRCm39)	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,908,964 (GRCm39)	E347K	unknown	Het
Pou2af1	G	A	9: 51,149,525 (GRCm39)	V206I	possibly damaging	Het
Prr16	A	G	18: 51,251,139 (GRCm39)	D46G	possibly damaging	Het
Pus1	A	G	5: 110,928,184 (GRCm39)	M1T	probably null	Het
Pygm	T	A	19: 6,441,439 (GRCm39)	V566D	possibly damaging	Het
Rb1	T	A	14: 73,499,954 (GRCm39)		probably benign	Het
Rhoj	A	T	12: 75,446,980 (GRCm39)	K200*	probably null	Het
Rnf213	A	G	11: 119,328,521 (GRCm39)	I1985V	possibly damaging	Het
Septin11	G	T	5: 93,310,113 (GRCm39)	M305I	possibly damaging	Het
Sfpq	G	C	4: 126,915,404 (GRCm39)	Q65H	unknown	Het
Skic8	A	G	9: 54,635,463 (GRCm39)	V46A	probably benign	Het
Stard3nl	G	T	13: 19,554,434 (GRCm39)	A180E	probably damaging	Het
Tanc2	A	G	11: 105,801,066 (GRCm39)	N1094S	probably benign	Het
Trf	C	T	9: 103,089,184 (GRCm39)	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,388,476 (GRCm39)		probably benign	Het
Tubb3	A	G	8: 124,147,658 (GRCm39)	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,749,056 (GRCm39)	H135R	probably damaging	Het
Ugt1a10	A	T	1: 87,983,204 (GRCm39)	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 21,214,677 (GRCm39)	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,531 (GRCm39)	D580V	probably damaging	Het
Vps33b	A	G	7: 79,940,866 (GRCm39)	Y593C	probably benign	Het
Wdr19	A	G	5: 65,385,885 (GRCm39)	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,047,516 (GRCm39)	R853Q	probably damaging	Het
Xirp1	T	C	9: 119,845,572 (GRCm39)	T1104A	probably benign	Het
Yipf1	G	A	4: 107,201,880 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,809 (GRCm39)	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,344,055 (GRCm39)	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889 (GRCm39)	T1285M	probably 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
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
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'- ACCCTTGGTCCAGTCACTTG -3'
(R):5'- GCTAGTCAACCCAGGCAATC -3'

Sequencing Primer
(F):5'- CATTACGGATGGTTGTAAGCCACC -3'
(R):5'- AGGCAATCTAACCTTACACTACTTTC -3'

Posted On

2015-09-25