Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Setdb2'

54651

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R0610 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59417470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 324 (S324A)

Ref Sequence

ENSEMBL: ENSMUSP00000093450 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095775
AA Change: S324A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: S324A

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

possibly damaging
Transcript: ENSMUST00000161459
AA Change: S308A

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: S308A

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

0.2008

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056 (GRCm38)	T141S	probably benign	Het
4930578I06Rik	G	A	14: 63,986,265 (GRCm38)	R21*	probably null	Het
9530003J23Rik	A	G	10: 117,237,730 (GRCm38)	F66S	probably benign	Het
Abca15	A	G	7: 120,365,786 (GRCm38)	E757G	possibly damaging	Het
Abca5	T	C	11: 110,301,527 (GRCm38)	T720A	probably benign	Het
Actr5	T	A	2: 158,632,456 (GRCm38)		probably null	Het
Adgrl3	T	C	5: 81,693,716 (GRCm38)		probably benign	Het
Adra1a	A	G	14: 66,637,792 (GRCm38)	D72G	probably damaging	Het
Ahnak	G	T	19: 9,007,878 (GRCm38)	L2175F	probably benign	Het
AK157302	A	G	13: 21,495,663 (GRCm38)	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,389,254 (GRCm38)	A336V	probably benign	Het
Asic1	C	A	15: 99,698,899 (GRCm38)	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,204,774 (GRCm38)	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,504,349 (GRCm38)	R227L	possibly damaging	Het
Calm4	T	A	13: 3,838,320 (GRCm38)	V142E	possibly damaging	Het
Catsperg1	A	T	7: 29,190,619 (GRCm38)	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,449,898 (GRCm38)	I83M	probably damaging	Het
Cep295	A	C	9: 15,322,754 (GRCm38)	S2249A	possibly damaging	Het
Cln3	A	G	7: 126,580,189 (GRCm38)	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,478,056 (GRCm38)	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,707,848 (GRCm38)	V53E	probably benign	Het
Csmd1	G	A	8: 15,918,208 (GRCm38)	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,271,558 (GRCm38)	W11R	probably damaging	Het
Dbx2	C	T	15: 95,624,897 (GRCm38)	V310M	probably benign	Het
Disp2	T	A	2: 118,792,236 (GRCm38)	C1150S	probably benign	Het
Dock3	T	C	9: 107,023,788 (GRCm38)	D326G	probably damaging	Het
Dph1	G	T	11: 75,185,957 (GRCm38)		probably benign	Het
Dyrk1b	C	A	7: 28,186,634 (GRCm38)	T594K	probably damaging	Het
Evx2	C	A	2: 74,655,987 (GRCm38)	A353S	probably benign	Het
Fam71f1	T	A	6: 29,326,577 (GRCm38)	V231E	probably benign	Het
Gm4737	T	C	16: 46,153,901 (GRCm38)	E371G	probably damaging	Het
Gm4788	G	A	1: 139,701,846 (GRCm38)	T799I	probably benign	Het
Greb1	A	C	12: 16,696,442 (GRCm38)	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,319,402 (GRCm38)	C490*	probably null	Het
Hmmr	G	T	11: 40,715,902 (GRCm38)	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,779,400 (GRCm38)	E526D	probably benign	Het
Ibsp	A	G	5: 104,310,134 (GRCm38)	E179G	probably benign	Het
Ift140	C	T	17: 25,035,803 (GRCm38)	A150V	probably benign	Het
Igf2bp2	A	G	16: 22,070,309 (GRCm38)	S416P	probably benign	Het
Ighe	T	C	12: 113,271,743 (GRCm38)	K294E	unknown	Het
Ino80	G	A	2: 119,382,960 (GRCm38)	R1249C	probably damaging	Het
Iqca	C	A	1: 90,142,731 (GRCm38)	G133V	probably null	Het
Kng2	T	A	16: 23,000,594 (GRCm38)	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,399,739 (GRCm38)	C331S	probably benign	Het
Lrrc1	A	G	9: 77,472,206 (GRCm38)	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,815,416 (GRCm38)	I2489L	probably benign	Het
Mapk9	A	C	11: 49,863,573 (GRCm38)	N51T	probably benign	Het
Marf1	C	T	16: 14,142,534 (GRCm38)	A549T	probably damaging	Het
Nek2	T	A	1: 191,822,515 (GRCm38)	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903 (GRCm38)	A248E	probably benign	Het
Nrp1	T	C	8: 128,502,618 (GRCm38)	I859T	probably damaging	Het
Olfm5	A	T	7: 104,154,445 (GRCm38)	Y195*	probably null	Het
Olfr354	T	A	2: 36,907,659 (GRCm38)	W238R	probably damaging	Het
Olfr71	T	A	4: 43,706,400 (GRCm38)	H56L	possibly damaging	Het
Olfr955	A	G	9: 39,469,823 (GRCm38)	L301P	probably damaging	Het
Oxtr	C	T	6: 112,477,177 (GRCm38)	R42Q	probably benign	Het
Pcnx2	A	G	8: 125,839,687 (GRCm38)	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,098,171 (GRCm38)		probably null	Het
Ryr2	T	A	13: 11,622,952 (GRCm38)	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116 (GRCm38)	E103D	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858 (GRCm38)	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,576,626 (GRCm38)	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,379,942 (GRCm38)	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,909,424 (GRCm38)	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,283,728 (GRCm38)	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,918,461 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,275,674 (GRCm38)	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,691,391 (GRCm38)	L930Q	probably damaging	Het
Snx6	T	C	12: 54,751,789 (GRCm38)	H387R	probably damaging	Het
Sox5	A	T	6: 143,833,439 (GRCm38)	M622K	possibly damaging	Het
Ston1	C	A	17: 88,635,281 (GRCm38)	N38K	possibly damaging	Het
Strbp	C	T	2: 37,584,077 (GRCm38)	V658I	probably damaging	Het
Strn3	T	C	12: 51,610,448 (GRCm38)		probably null	Het
Suco	A	G	1: 161,864,032 (GRCm38)		probably benign	Het
Suco	T	G	1: 161,859,503 (GRCm38)	D96A	probably benign	Het
Sytl2	A	T	7: 90,380,853 (GRCm38)		probably benign	Het
Tmem41b	T	A	7: 109,981,085 (GRCm38)	D91V	probably damaging	Het
Tmem41b	T	A	7: 109,981,083 (GRCm38)	M25L	probably benign	Het
Tmem50b	C	T	16: 91,583,286 (GRCm38)	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,707,347 (GRCm38)	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,031,661 (GRCm38)		probably null	Het
Trappc8	A	G	18: 20,837,188 (GRCm38)	V916A	probably damaging	Het
Trdn	G	T	10: 33,474,453 (GRCm38)	V673F	probably damaging	Het
Trim28	G	T	7: 13,025,784 (GRCm38)		probably benign	Het
Txnrd2	T	C	16: 18,472,882 (GRCm38)	V427A	probably damaging	Het
Uggt1	T	C	1: 36,165,506 (GRCm38)		probably benign	Het
Vmn1r36	A	G	6: 66,716,420 (GRCm38)	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,803,064 (GRCm38)	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,387,312 (GRCm38)	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,475,514 (GRCm38)	N453S	probably benign	Het
Wbp1l	T	A	19: 46,654,670 (GRCm38)	I370N	probably damaging	Het
Zfp445	T	C	9: 122,852,981 (GRCm38)	K632E	probably benign	Het
Zfp850	C	T	7: 27,989,394 (GRCm38)	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,204,857 (GRCm38)	L249P	probably damaging	Het

Other mutations in Setdb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Setdb2	APN	14	59,415,792 (GRCm38)	missense	probably damaging	1.00
IGL01695:Setdb2	APN	14	59,402,293 (GRCm38)	utr 3 prime	probably benign
IGL01720:Setdb2	APN	14	59,423,436 (GRCm38)	missense	possibly damaging	0.76
IGL02003:Setdb2	APN	14	59,413,490 (GRCm38)	missense	probably damaging	0.98
IGL02023:Setdb2	APN	14	59,431,158 (GRCm38)	missense	probably damaging	1.00
IGL02108:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02113:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02114:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02115:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02116:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02117:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02141:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
IGL02148:Setdb2	APN	14	59,402,315 (GRCm38)	missense	probably damaging	1.00
R0419:Setdb2	UTSW	14	59,406,744 (GRCm38)	splice site	probably null
R0636:Setdb2	UTSW	14	59,406,704 (GRCm38)	missense	probably benign	0.40
R0890:Setdb2	UTSW	14	59,419,220 (GRCm38)	missense	possibly damaging	0.89
R0931:Setdb2	UTSW	14	59,423,496 (GRCm38)	splice site	probably benign
R1355:Setdb2	UTSW	14	59,417,441 (GRCm38)	missense	probably damaging	1.00
R1553:Setdb2	UTSW	14	59,417,485 (GRCm38)	missense	probably benign	0.04
R1968:Setdb2	UTSW	14	59,419,409 (GRCm38)	missense	probably damaging	1.00
R2472:Setdb2	UTSW	14	59,419,454 (GRCm38)	missense	possibly damaging	0.49
R2894:Setdb2	UTSW	14	59,426,467 (GRCm38)	missense	probably benign	0.00
R3919:Setdb2	UTSW	14	59,419,167 (GRCm38)	missense	probably damaging	1.00
R4609:Setdb2	UTSW	14	59,415,704 (GRCm38)	missense	probably damaging	1.00
R4629:Setdb2	UTSW	14	59,409,359 (GRCm38)	missense	probably benign	0.13
R4816:Setdb2	UTSW	14	59,413,646 (GRCm38)	missense	probably benign	0.05
R4864:Setdb2	UTSW	14	59,409,266 (GRCm38)	missense	probably benign	0.01
R4951:Setdb2	UTSW	14	59,402,303 (GRCm38)	missense	possibly damaging	0.72
R5040:Setdb2	UTSW	14	59,415,707 (GRCm38)	missense	probably damaging	0.99
R5245:Setdb2	UTSW	14	59,426,494 (GRCm38)	missense	probably null	0.00
R5358:Setdb2	UTSW	14	59,409,436 (GRCm38)	missense	probably benign	0.17
R5656:Setdb2	UTSW	14	59,419,118 (GRCm38)	missense	probably damaging	1.00
R5705:Setdb2	UTSW	14	59,423,365 (GRCm38)	missense	possibly damaging	0.80
R6103:Setdb2	UTSW	14	59,409,532 (GRCm38)	splice site	probably null
R6106:Setdb2	UTSW	14	59,423,449 (GRCm38)	nonsense	probably null
R6388:Setdb2	UTSW	14	59,424,697 (GRCm38)	missense	probably benign
R6431:Setdb2	UTSW	14	59,419,056 (GRCm38)	missense	probably damaging	1.00
R6494:Setdb2	UTSW	14	59,402,414 (GRCm38)	missense	probably benign	0.12
R6971:Setdb2	UTSW	14	59,415,740 (GRCm38)	missense	probably damaging	1.00
R7442:Setdb2	UTSW	14	59,419,251 (GRCm38)	missense	probably damaging	0.99
R7444:Setdb2	UTSW	14	59,423,345 (GRCm38)	nonsense	probably null
R7759:Setdb2	UTSW	14	59,419,364 (GRCm38)	missense	probably damaging	1.00
R8021:Setdb2	UTSW	14	59,423,384 (GRCm38)	nonsense	probably null
R8039:Setdb2	UTSW	14	59,402,375 (GRCm38)	missense	probably damaging	1.00
R8261:Setdb2	UTSW	14	59,413,692 (GRCm38)	splice site	probably benign
R8393:Setdb2	UTSW	14	59,412,731 (GRCm38)	missense	probably benign	0.04
R8513:Setdb2	UTSW	14	59,402,390 (GRCm38)	missense	probably damaging	1.00
R8700:Setdb2	UTSW	14	59,417,439 (GRCm38)	missense	probably damaging	1.00
R8707:Setdb2	UTSW	14	59,423,458 (GRCm38)	nonsense	probably null
R8940:Setdb2	UTSW	14	59,409,507 (GRCm38)	missense	probably damaging	1.00
R9217:Setdb2	UTSW	14	59,409,432 (GRCm38)	missense	possibly damaging	0.61
R9314:Setdb2	UTSW	14	59,412,791 (GRCm38)	missense	probably benign	0.02
R9336:Setdb2	UTSW	14	59,423,367 (GRCm38)	missense	unknown
R9442:Setdb2	UTSW	14	59,402,400 (GRCm38)	missense	probably damaging	1.00
R9525:Setdb2	UTSW	14	59,409,392 (GRCm38)	missense	probably benign	0.00
R9743:Setdb2	UTSW	14	59,413,553 (GRCm38)	missense	probably benign	0.00
X0017:Setdb2	UTSW	14	59,419,468 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCAGCAGAGTGAATACACTCCAAT -3'
(R):5'- GGCCTACCTTGTTTAGAGAGGTTTCCA -3'

Sequencing Primer
(F):5'- tgaagaaaacaaacaaggtggatag -3'
(R):5'- CCCCACTGCCTTTCTTTTAGAAAA -3'

Posted On

2013-07-11