Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Setdb2'

617394

Institutional Source

Beutler Lab

Gene Symbol

Setdb2

Ensembl Gene

ENSMUSG00000071350

Gene Name

SET domain, bifurcated 2

Synonyms

KMT1F, LOC239122

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59423384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 103 (Y103*)

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

probably null
Transcript: ENSMUST00000111253
AA Change: Y103*

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

97% (74/76)

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
1810010H24Rik	A	G	11: 107,025,927 (GRCm38)	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741 (GRCm38)		probably null	Het
A630010A05Rik	C	T	16: 14,589,246 (GRCm38)	T13I		Het
Acsm5	A	G	7: 119,542,393 (GRCm38)	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759 (GRCm38)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184 (GRCm38)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301 (GRCm38)	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958 (GRCm38)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905 (GRCm38)	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648 (GRCm38)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063 (GRCm38)	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679 (GRCm38)	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838 (GRCm38)	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426 (GRCm38)	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498 (GRCm38)	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330 (GRCm38)	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109 (GRCm38)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591 (GRCm38)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902 (GRCm38)	M1K	probably null	Het
Frs3	T	A	17: 47,703,114 (GRCm38)	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094 (GRCm38)	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222 (GRCm38)	V832I		Het
Gtf2ird2	T	A	5: 134,203,334 (GRCm38)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269 (GRCm38)	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053 (GRCm38)	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457 (GRCm38)	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353 (GRCm38)		probably benign	Het
Itih2	T	C	2: 10,105,652 (GRCm38)	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919 (GRCm38)	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491 (GRCm38)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119 (GRCm38)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477 (GRCm38)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346 (GRCm38)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415 (GRCm38)	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252 (GRCm38)	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724 (GRCm38)	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260 (GRCm38)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815 (GRCm38)		probably null	Het
Nek3	C	T	8: 22,157,190 (GRCm38)	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892 (GRCm38)	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079 (GRCm38)	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296 (GRCm38)	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652 (GRCm38)	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342 (GRCm38)	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784 (GRCm38)	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pde12	A	T	14: 26,665,699 (GRCm38)	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939 (GRCm38)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507 (GRCm38)	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955 (GRCm38)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641 (GRCm38)	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756 (GRCm38)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510 (GRCm38)	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409 (GRCm38)	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582 (GRCm38)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628 (GRCm38)	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623 (GRCm38)	F336Y	probably benign	Het
Slit2	T	A	5: 48,302,492 (GRCm38)	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539 (GRCm38)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524 (GRCm38)	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514 (GRCm38)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543 (GRCm38)	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417 (GRCm38)	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469 (GRCm38)	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089 (GRCm38)	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984 (GRCm38)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206 (GRCm38)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889 (GRCm38)	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121 (GRCm38)	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714 (GRCm38)	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509 (GRCm38)	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917 (GRCm38)	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750 (GRCm38)	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675 (GRCm38)	P1760H		Het
Zbp1	T	C	2: 173,209,210 (GRCm38)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947 (GRCm38)		probably benign	Het
Zzef1	A	T	11: 72,823,416 (GRCm38)	D244V	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
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
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'- AAAGCTTCGCCTCATATTTGC -3'
(R):5'- CCGTTTGGGCAGAATTTCTAGTC -3'

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

Posted On

2020-01-23