Mutagenetix > Incidental Mutation

Incidental Mutation 'R9314:Setdb2'

705806

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: 0.562) question?

Stock #

R9314 (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 T at 59412791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 458 (I458N)

Ref Sequence

ENSEMBL: ENSMUSP00000124696 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably benign
Transcript: ENSMUST00000095775
AA Change: I474N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: I474N

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 benign
Transcript: ENSMUST00000161459
AA Change: I458N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: I458N

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,328,619	N260K	possibly damaging	Het
Anapc1	G	A	2: 128,622,500	S1692L	possibly damaging	Het
Brca2	A	G	5: 150,550,894	R2421G	probably damaging	Het
Cad	A	G	5: 31,077,644	Y2143C	probably damaging	Het
Calr3	T	A	8: 72,424,691	D356V	possibly damaging	Het
Cd207	T	A	6: 83,675,717	T144S	probably damaging	Het
Cntln	T	C	4: 85,006,482	L608P	probably damaging	Het
Dnah8	A	T	17: 30,771,883	Y3300F	probably benign	Het
Emb	T	C	13: 117,272,068	I315T	probably damaging	Het
Esr1	T	A	10: 4,966,181	V456E	possibly damaging	Het
Evpl	A	T	11: 116,227,677	H701Q	probably benign	Het
F5	C	T	1: 164,201,577	T1715I	probably benign	Het
Fut10	T	A	8: 31,201,476	H116Q	probably damaging	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5591	T	C	7: 38,522,460	T62A	probably benign	Het
Hectd4	T	C	5: 121,299,645		probably null	Het
Ifit1bl1	G	C	19: 34,599,293	Q3E	probably benign	Het
Ighg3	A	T	12: 113,360,326	D147E		Het
Ighv8-13	A	G	12: 115,765,376	V87A	possibly damaging	Het
Kdelr1	A	G	7: 45,881,626	T160A	probably benign	Het
Kdm2a	A	G	19: 4,322,482	L945P	probably damaging	Het
Krt36	C	T	11: 100,103,401	W283*	probably null	Het
Lamp3	T	C	16: 19,673,442	M351V	probably benign	Het
Lox	C	G	18: 52,520,839	R395P	probably damaging	Het
Lrrtm3	T	C	10: 64,089,720		probably benign	Het
Madcam1	C	A	10: 79,665,647	T182K	probably damaging	Het
Megf8	T	A	7: 25,329,872	H280Q	probably damaging	Het
Mrgprb5	A	G	7: 48,168,426	I187T	probably benign	Het
Muc1	T	C	3: 89,231,518	V478A	probably damaging	Het
Mug1	T	G	6: 121,857,337	V359G	probably damaging	Het
Myh4	A	G	11: 67,260,315	H1932R	probably benign	Het
Naaladl1	A	C	19: 6,112,371	N448H	probably damaging	Het
Olfr690	A	T	7: 105,329,874	I106N	probably damaging	Het
Olfr76	C	T	19: 12,119,780	E311K	probably benign	Het
Pkd1l1	A	T	11: 8,879,153	Y1480N		Het
Poll	T	C	19: 45,558,652	E127G	probably benign	Het
Ppl	T	C	16: 5,104,503	N305S	possibly damaging	Het
Prss53	A	G	7: 127,890,867	V17A	probably benign	Het
Ptprj	A	G	2: 90,471,287	V74A	possibly damaging	Het
Rapgef4	A	T	2: 72,234,639	H804L	possibly damaging	Het
Rassf8	A	G	6: 145,816,570	T356A	probably damaging	Het
Rptor	T	C	11: 119,895,946	S1246P	probably benign	Het
Sgtb	A	G	13: 104,118,425	K68E	possibly damaging	Het
Slc19a3	T	G	1: 83,022,373	I308L	possibly damaging	Het
Slc22a5	T	C	11: 53,871,661	D320G	possibly damaging	Het
Slc34a2	T	C	5: 53,060,801	S141P	possibly damaging	Het
Slc37a2	T	C	9: 37,239,186	T158A	possibly damaging	Het
Slc7a1	T	C	5: 148,332,517	I598V	probably benign	Het
Sphk2	T	C	7: 45,711,734	D282G	probably damaging	Het
Spty2d1	G	T	7: 46,998,738	P148T	probably damaging	Het
Supt3	A	G	17: 45,041,363	T310A	probably benign	Het
Supt5	T	A	7: 28,320,374	D457V	probably damaging	Het
Svep1	C	T	4: 58,070,347	G2480R	probably damaging	Het
Tbcd	T	C	11: 121,596,471	V803A	probably benign	Het
Tex2	A	T	11: 106,544,249	C784S	unknown	Het
Thrb	A	G	14: 17,963,208	H57R	probably benign	Het
Tmc4	T	C	7: 3,676,724	T34A	possibly damaging	Het
Tmprss2	T	C	16: 97,599,259	N4S	probably benign	Het
Trank1	A	G	9: 111,365,981	I1024M	probably damaging	Het
Trnau1ap	C	A	4: 132,329,386		probably benign	Het
Ttn	A	G	2: 76,736,366	V28061A	probably damaging	Het
Txnl4b	C	A	8: 109,572,699	P97Q	probably benign	Het
Ube4a	T	C	9: 44,942,725	T573A	probably benign	Het
Vit	A	T	17: 78,619,615	T330S	probably benign	Het
Wdr3	T	C	3: 100,142,972	I750V	probably benign	Het
Zfp59	C	T	7: 27,854,604	L494F	possibly damaging	Het

Other mutations in Setdb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Setdb2	APN	14	59415792	missense	probably damaging	1.00
IGL01695:Setdb2	APN	14	59402293	utr 3 prime	probably benign
IGL01720:Setdb2	APN	14	59423436	missense	possibly damaging	0.76
IGL02003:Setdb2	APN	14	59413490	missense	probably damaging	0.98
IGL02023:Setdb2	APN	14	59431158	missense	probably damaging	1.00
IGL02108:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02113:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02114:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02115:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02116:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02117:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02141:Setdb2	APN	14	59402315	missense	probably damaging	1.00
IGL02148:Setdb2	APN	14	59402315	missense	probably damaging	1.00
R0419:Setdb2	UTSW	14	59406744	splice site	probably null
R0610:Setdb2	UTSW	14	59417470	missense	possibly damaging	0.55
R0636:Setdb2	UTSW	14	59406704	missense	probably benign	0.40
R0890:Setdb2	UTSW	14	59419220	missense	possibly damaging	0.89
R0931:Setdb2	UTSW	14	59423496	splice site	probably benign
R1355:Setdb2	UTSW	14	59417441	missense	probably damaging	1.00
R1553:Setdb2	UTSW	14	59417485	missense	probably benign	0.04
R1968:Setdb2	UTSW	14	59419409	missense	probably damaging	1.00
R2472:Setdb2	UTSW	14	59419454	missense	possibly damaging	0.49
R2894:Setdb2	UTSW	14	59426467	missense	probably benign	0.00
R3919:Setdb2	UTSW	14	59419167	missense	probably damaging	1.00
R4609:Setdb2	UTSW	14	59415704	missense	probably damaging	1.00
R4629:Setdb2	UTSW	14	59409359	missense	probably benign	0.13
R4816:Setdb2	UTSW	14	59413646	missense	probably benign	0.05
R4864:Setdb2	UTSW	14	59409266	missense	probably benign	0.01
R4951:Setdb2	UTSW	14	59402303	missense	possibly damaging	0.72
R5040:Setdb2	UTSW	14	59415707	missense	probably damaging	0.99
R5245:Setdb2	UTSW	14	59426494	missense	probably null	0.00
R5358:Setdb2	UTSW	14	59409436	missense	probably benign	0.17
R5656:Setdb2	UTSW	14	59419118	missense	probably damaging	1.00
R5705:Setdb2	UTSW	14	59423365	missense	possibly damaging	0.80
R6103:Setdb2	UTSW	14	59409532	splice site	probably null
R6106:Setdb2	UTSW	14	59423449	nonsense	probably null
R6388:Setdb2	UTSW	14	59424697	missense	probably benign
R6431:Setdb2	UTSW	14	59419056	missense	probably damaging	1.00
R6494:Setdb2	UTSW	14	59402414	missense	probably benign	0.12
R6971:Setdb2	UTSW	14	59415740	missense	probably damaging	1.00
R7442:Setdb2	UTSW	14	59419251	missense	probably damaging	0.99
R7444:Setdb2	UTSW	14	59423345	nonsense	probably null
R7759:Setdb2	UTSW	14	59419364	missense	probably damaging	1.00
R8021:Setdb2	UTSW	14	59423384	nonsense	probably null
R8039:Setdb2	UTSW	14	59402375	missense	probably damaging	1.00
R8261:Setdb2	UTSW	14	59413692	splice site	probably benign
R8393:Setdb2	UTSW	14	59412731	missense	probably benign	0.04
R8513:Setdb2	UTSW	14	59402390	missense	probably damaging	1.00
R8700:Setdb2	UTSW	14	59417439	missense	probably damaging	1.00
R8707:Setdb2	UTSW	14	59423458	nonsense	probably null
R8940:Setdb2	UTSW	14	59409507	missense	probably damaging	1.00
R9217:Setdb2	UTSW	14	59409432	missense	possibly damaging	0.61
R9336:Setdb2	UTSW	14	59423367	missense	unknown
R9442:Setdb2	UTSW	14	59402400	missense	probably damaging	1.00
R9525:Setdb2	UTSW	14	59409392	missense	probably benign	0.00
R9743:Setdb2	UTSW	14	59413553	missense	probably benign	0.00
X0017:Setdb2	UTSW	14	59419468	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTTCCCTGGAGAGGCATC -3'
(R):5'- GTATCACCATTCTATTTGAAGCCC -3'

Sequencing Primer
(F):5'- GATAGTGTCTTGCTATGTACCCCAAG -3'
(R):5'- ACCATGTCTTCTGGAAGAGC -3'

Posted On

2022-03-25