Mutagenetix > Incidental Mutation

Incidental Mutation 'R8940:Setdb2'

680938

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: 0.510) question?

Stock #

R8940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59402009-59440884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59409507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 536 (S536P)

Ref Sequence

ENSEMBL: ENSMUSP00000093450 (fasta)

Gene Model

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

AlphaFold

Q8C267

Predicted Effect

probably damaging
Transcript: ENSMUST00000095775
AA Change: S536P

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

SMART Domains

Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: S536P

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: S520P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: S520P

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

Meta Mutation Damage Score

0.3969

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (73/74)

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
2900026A02Rik	A	T	5: 113,093,202	S1709T	probably benign	Het
Abcc12	A	G	8: 86,560,811	V135A	probably benign	Het
Alkbh3	G	T	2: 94,008,046	P60H	probably damaging	Het
Armc3	A	C	2: 19,235,582	Y50S	probably damaging	Het
Arpc4	T	C	6: 113,385,638	V70A	probably benign	Het
Atp13a4	A	G	16: 29,454,690		probably null	Het
Bco1	A	T	8: 117,130,608	Y438F	probably benign	Het
Cacna1b	C	A	2: 24,763,072		probably benign	Het
Cdh17	C	T	4: 11,783,226	S189L	probably damaging	Het
Cltc	T	C	11: 86,730,246	T312A	probably benign	Het
Crym	T	A	7: 120,195,480	N172I	probably benign	Het
Depdc7	A	G	2: 104,724,568		probably null	Het
Dnhd1	T	A	7: 105,714,647		probably benign	Het
Dntt	T	A	19: 41,058,551		probably benign	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Fat2	A	T	11: 55,256,810	L3869M	possibly damaging	Het
Garnl3	T	C	2: 33,005,229		probably null	Het
Gldc	C	T	19: 30,151,484	M196I	probably benign	Het
Gm17078	C	T	14: 51,608,885	V120M	probably damaging	Het
Gm5157	G	A	7: 21,184,760	S286F	probably damaging	Het
Gm6337	C	T	14: 6,055,308	C187Y	probably damaging	Het
Gm9833	A	T	3: 10,088,346	L58F	probably benign	Het
Golgb1	A	G	16: 36,916,397	D2002G	probably damaging	Het
Gpr179	T	C	11: 97,337,849	N1160S	probably damaging	Het
Gulo	A	G	14: 65,997,591	V227A	probably benign	Het
Hlcs	G	A	16: 94,231,226	A31V	probably benign	Het
Hs1bp3	T	C	12: 8,341,980	S361P	probably benign	Het
Ifi44	G	A	3: 151,749,309	P93L	probably benign	Het
Izumo2	T	A	7: 44,713,046	M78K	probably benign	Het
Lin54	T	C	5: 100,446,671	E545G	probably damaging	Het
Map3k13	A	T	16: 21,908,704	I439F	possibly damaging	Het
Matr3	T	G	18: 35,572,587	S188R	probably damaging	Het
Mug1	A	T	6: 121,881,683	H1120L		Het
Ndst4	A	G	3: 125,681,153		probably benign	Het
Nlrp3	G	A	11: 59,565,044	V889M	probably benign	Het
Olfr1030	A	T	2: 85,984,199	M120L	probably benign	Het
Olfr1375	A	G	11: 51,048,628	I174V	probably benign	Het
Olfr456	A	G	6: 42,486,278	M305T	probably benign	Het
Olfr985	T	A	9: 40,127,184	Y259F	probably damaging	Het
Olfr998	A	G	2: 85,591,184	I215V	probably benign	Het
P4hb	A	T	11: 120,568,002	D182E	probably benign	Het
Pcdh10	A	G	3: 45,384,185	T926A	possibly damaging	Het
Pikfyve	T	C	1: 65,246,970	S1078P	probably benign	Het
Plcl2	A	T	17: 50,608,762	D933V	probably damaging	Het
Pramel7	G	A	2: 87,491,268	T141I	probably benign	Het
Prepl	A	T	17: 85,068,926	C567S	probably damaging	Het
Prpsap1	A	T	11: 116,479,789	M114K	probably damaging	Het
Ptk2b	A	C	14: 66,170,236		probably null	Het
Rest	T	C	5: 77,282,868	F1045L	possibly damaging	Het
Rnf19a	A	G	15: 36,260,138	C254R	probably damaging	Het
Rrad	C	T	8: 104,628,590	R262Q	possibly damaging	Het
Rsf1	GGCG	GGCGACTGCCGCG	7: 97,579,906		probably benign	Het
Setdb1	T	A	3: 95,356,172	M8L	probably benign	Het
Sipa1l1	T	C	12: 82,357,266	L511P	probably damaging	Het
Slc12a9	T	A	5: 137,328,493	H234L	probably benign	Het
Slc35e2	G	T	4: 155,610,085	G30W	probably damaging	Het
Slc6a15	T	C	10: 103,393,496	V132A	probably damaging	Het
Slc7a10	A	G	7: 35,200,450	T486A	probably benign	Het
Smc5	T	C	19: 23,259,762	Y235C	probably benign	Het
Sorcs3	T	C	19: 48,796,469		probably null	Het
Spata21	T	C	4: 141,104,905	L459P	probably damaging	Het
Tbc1d9	A	G	8: 83,254,823	I706M	probably damaging	Het
Tcp11	T	A	17: 28,080,230	E17V	probably damaging	Het
Tiparp	A	G	3: 65,531,878	D23G	probably benign	Het
Tmem108	A	G	9: 103,499,957	S98P	possibly damaging	Het
Tmem35b	A	G	4: 127,127,880	D56G	probably damaging	Het
Tnr	G	C	1: 159,858,297	G366A	probably damaging	Het
Ttc3	A	G	16: 94,429,499	S852G	possibly damaging	Het
Ttn	G	A	2: 76,766,594	L19992F	probably damaging	Het
Ush2a	T	A	1: 188,400,308	M909K	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Wif1	A	G	10: 121,099,779	H333R	probably benign	Het
Zfp119a	A	G	17: 55,865,551	C431R	probably damaging	Het
Zfp345	G	A	2: 150,472,357	P420L	probably benign	Het
Zfp608	C	T	18: 54,900,229	D411N	possibly damaging	Het
Zfp609	C	T	9: 65,703,279	A801T	possibly damaging	Het
Zfp74	A	G	7: 29,935,347	V312A	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
R9217:Setdb2	UTSW	14	59409432	missense	possibly damaging	0.61
R9314:Setdb2	UTSW	14	59412791	missense	probably benign	0.02
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'- CTTGGGACTTCTTTCCTGGGAC -3'
(R):5'- TTCGAAGCTGGGCACATATG -3'

Sequencing Primer
(F):5'- CTGGGACTTCAAGCACCTGTTTAG -3'
(R):5'- GAGTCAGGTAAATCTAAGTCCTCCAG -3'

Posted On

2021-08-31