Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Setdb2'

707186

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59423367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

Ref Sequence

ENSEMBL: ENSMUSP00000106884 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably benign
Transcript: ENSMUST00000095775

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350

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

unknown
Transcript: ENSMUST00000111253
AA Change: V109A

Predicted Effect

probably benign
Transcript: ENSMUST00000161459

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 147,945,033 (GRCm38)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,093,100 (GRCm38)		probably null	Het
Adamts15	T	A	9: 30,904,789 (GRCm38)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,322,027 (GRCm38)	V675A	probably benign	Het
Ank3	A	T	10: 69,973,748 (GRCm38)	T1120S	probably benign	Het
Armh3	A	T	19: 45,956,681 (GRCm38)	M277K	probably damaging	Het
Babam2	A	T	5: 31,701,850 (GRCm38)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,341,219 (GRCm38)	Q261*	probably null	Het
Cdc27	A	T	11: 104,505,670 (GRCm38)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm38)	V324I	probably benign	Het
Cfap44	T	C	16: 44,422,444 (GRCm38)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,878,616 (GRCm38)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,904,441 (GRCm38)	S743T	probably benign	Het
Ddias	A	G	7: 92,858,106 (GRCm38)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,678,587 (GRCm38)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,731,066 (GRCm38)		probably null	Het
Dnah9	A	T	11: 65,870,949 (GRCm38)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,524,685 (GRCm38)	Q271K	probably benign	Het
Dvl2	T	A	11: 70,006,354 (GRCm38)	I294N	probably damaging	Het
E2f3	G	A	13: 29,911,256 (GRCm38)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,505,277 (GRCm38)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,585,060 (GRCm38)	T125A	probably benign	Het
Etv5	A	C	16: 22,435,877 (GRCm38)	C78G	probably benign	Het
Frrs1	G	A	3: 116,890,933 (GRCm38)	R263H	probably benign	Het
Grid1	G	A	14: 35,321,707 (GRCm38)	D340N	probably damaging	Het
Hivep3	A	T	4: 120,095,203 (GRCm38)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,682,828 (GRCm38)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901 (GRCm38)		probably null	Het
Igkv1-88	T	A	6: 68,862,329 (GRCm38)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,409,167 (GRCm38)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,845,816 (GRCm38)	L3821R	unknown	Het
Krtap22-2	T	G	16: 89,010,590 (GRCm38)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,442,198 (GRCm38)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,084,515 (GRCm38)	I171N	probably damaging	Het
Mark1	C	T	1: 184,916,148 (GRCm38)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,658,937 (GRCm38)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm38)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,750,938 (GRCm38)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,880,238 (GRCm38)	T1654A		Het
Napsa	G	T	7: 44,582,345 (GRCm38)	G153W	probably damaging	Het
Nos3	A	C	5: 24,379,763 (GRCm38)	I722L	probably benign	Het
Or10z1	A	T	1: 174,250,113 (GRCm38)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,269,917 (GRCm38)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,658,992 (GRCm38)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,095,149 (GRCm38)	S166R	probably benign	Het
P4ha2	T	A	11: 54,111,564 (GRCm38)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,124,681 (GRCm38)	C47F	unknown	Het
Pbx3	T	A	2: 34,371,820 (GRCm38)	H34L	probably benign	Het
Pcca	A	G	14: 122,650,326 (GRCm38)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,011,461 (GRCm38)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,662,198 (GRCm38)	V85G	probably damaging	Het
Pclo	A	G	5: 14,676,548 (GRCm38)	I1807V	unknown	Het
Pgm3	A	T	9: 86,555,360 (GRCm38)	F528Y	probably benign	Het
Pigz	T	C	16: 31,944,876 (GRCm38)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,875,435 (GRCm38)	Q687H		Het
Pja2	A	T	17: 64,283,437 (GRCm38)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,428,105 (GRCm38)	F389L	probably damaging	Het
Plcz1	T	A	6: 140,039,720 (GRCm38)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,941,001 (GRCm38)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,049,660 (GRCm38)	C541G	probably benign	Het
Prr15l	A	T	11: 96,934,773 (GRCm38)	K76N	probably damaging	Het
Psg28	C	A	7: 18,422,980 (GRCm38)	K443N	possibly damaging	Het
Ptch2	A	G	4: 117,109,579 (GRCm38)	D553G	possibly damaging	Het
Ptch2	G	T	4: 117,097,000 (GRCm38)	A76S	probably damaging	Het
Ptprz1	T	C	6: 23,000,856 (GRCm38)	S982P	probably benign	Het
Rnd3	T	C	2: 51,148,832 (GRCm38)	I15V	probably benign	Het
Rtn3	T	C	19: 7,482,963 (GRCm38)	K41E	unknown	Het
Sap25	T	C	5: 137,641,723 (GRCm38)	S30P	probably benign	Het
Scfd2	A	T	5: 74,531,345 (GRCm38)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm38)	Y106C	probably damaging	Het
Sell	T	C	1: 164,065,608 (GRCm38)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,314,554 (GRCm38)	V195D	probably damaging	Het
Skint2	T	C	4: 112,625,857 (GRCm38)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,667,255 (GRCm38)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,222,483 (GRCm38)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,825 (GRCm38)	G456R	probably benign	Het
Synpo	G	T	18: 60,602,400 (GRCm38)	R825S	probably damaging	Het
Tango6	A	G	8: 106,689,069 (GRCm38)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,662,005 (GRCm38)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,434,943 (GRCm38)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,208,961 (GRCm38)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,417,080 (GRCm38)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm38)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,894,953 (GRCm38)	M771K	probably benign	Het
Trim29	T	C	9: 43,327,053 (GRCm38)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,358,853 (GRCm38)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,226,943 (GRCm38)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,137,271 (GRCm38)	H269R	probably benign	Het
Utp20	A	G	10: 88,813,936 (GRCm38)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,525,201 (GRCm38)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,210,010 (GRCm38)	V680A	probably damaging	Het
Wee1	G	A	7: 110,122,482 (GRCm38)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,217,668 (GRCm38)	D91E	unknown	Het
Zfp518a	G	A	19: 40,912,781 (GRCm38)	V385I	probably benign	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
R0610:Setdb2	UTSW	14	59,417,470 (GRCm38)	missense	possibly damaging	0.55
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
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'- TTACAGGATGATGTAGACACTGAGC -3'
(R):5'- TCCGTTTGGGCAGAATTTCTAG -3'

Sequencing Primer
(F):5'- TGTAGACACTGAGCTGACACTG -3'
(R):5'- GGGCAGAATTTCTAGTCAGTGAG -3'

Posted On

2022-04-18