Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Setd6'

618934

Institutional Source

Beutler Lab

Gene Symbol

Setd6

Ensembl Gene

ENSMUSG00000031671

Gene Name

SET domain containing 6

Synonyms

0610039J04Rik

MMRRC Submission

067486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96442509-96445638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96443316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 186 (S186R)

Ref Sequence

ENSEMBL: ENSMUSP00000034096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034096] [ENSMUST00000041318] [ENSMUST00000068452] [ENSMUST00000073139] [ENSMUST00000080666] [ENSMUST00000098473] [ENSMUST00000141900] [ENSMUST00000148727] [ENSMUST00000162578] [ENSMUST00000166358] [ENSMUST00000211887] [ENSMUST00000213006]

AlphaFold

Q9CWY3

Predicted Effect

probably benign
Transcript: ENSMUST00000034096
AA Change: S186R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671
AA Change: S186R

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
SET	62	293	1.84e0	SMART
Pfam:Rubis-subs-bind	330	465	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041318

SMART Domains

Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Ndr	60	342	3.1e-126	PFAM
low complexity region	360	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068452

SMART Domains

Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550

Domain	Start	End	E-Value	Type
low complexity region	181	189	N/A	INTRINSIC
low complexity region	687	698	N/A	INTRINSIC
low complexity region	779	796	N/A	INTRINSIC
PDB:4J8S\|A	798	999	1e-137	PDB
low complexity region	1011	1028	N/A	INTRINSIC
low complexity region	1031	1055	N/A	INTRINSIC
PDB:4CT4\|C	1056	1295	1e-148	PDB
low complexity region	1296	1308	N/A	INTRINSIC
low complexity region	1328	1345	N/A	INTRINSIC
Pfam:DUF3819	1381	1530	2.5e-56	PFAM
low complexity region	1634	1648	N/A	INTRINSIC
Pfam:Not1	1991	2305	2.4e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073139

SMART Domains

Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564

Domain	Start	End	E-Value	Type
Pfam:Ndr	8	290	2e-126	PFAM
Pfam:Abhydrolase_6	43	278	1.2e-16	PFAM
low complexity region	308	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080666

SMART Domains

Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564

Domain	Start	End	E-Value	Type
Pfam:Ndr	8	290	9.9e-127	PFAM
Pfam:Abhydrolase_6	43	278	1.1e-16	PFAM
low complexity region	295	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098473

SMART Domains

Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550

Domain	Start	End	E-Value	Type
low complexity region	181	189	N/A	INTRINSIC
Pfam:CNOT1_HEAT	500	656	2.4e-57	PFAM
low complexity region	687	698	N/A	INTRINSIC
low complexity region	779	796	N/A	INTRINSIC
Pfam:CNOT1_TTP_bind	812	1004	1.4e-87	PFAM
low complexity region	1016	1033	N/A	INTRINSIC
low complexity region	1036	1060	N/A	INTRINSIC
Pfam:CNOT1_CAF1_bind	1087	1313	5.7e-99	PFAM
low complexity region	1333	1350	N/A	INTRINSIC
Pfam:DUF3819	1387	1534	2.3e-57	PFAM
low complexity region	1639	1653	N/A	INTRINSIC
Pfam:Not1	1998	2357	5.7e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141900
AA Change: S26R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000148727
AA Change: S23R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000162578

Predicted Effect

probably benign
Transcript: ENSMUST00000166358

SMART Domains

Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211887

Predicted Effect

probably benign
Transcript: ENSMUST00000213006

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	probably damaging	Het

Other mutations in Setd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Setd6	APN	8	96,443,320 (GRCm39)	missense	probably damaging	1.00
IGL02984:Setd6	UTSW	8	96,442,903 (GRCm39)	splice site	probably null
R0021:Setd6	UTSW	8	96,443,293 (GRCm39)	missense	probably damaging	1.00
R0140:Setd6	UTSW	8	96,442,737 (GRCm39)	missense	probably damaging	1.00
R1487:Setd6	UTSW	8	96,444,556 (GRCm39)	missense	probably damaging	1.00
R2073:Setd6	UTSW	8	96,443,416 (GRCm39)	missense	probably damaging	1.00
R4672:Setd6	UTSW	8	96,444,640 (GRCm39)	missense	probably null	0.11
R4817:Setd6	UTSW	8	96,443,683 (GRCm39)	unclassified	probably benign
R5960:Setd6	UTSW	8	96,442,827 (GRCm39)	missense	probably damaging	1.00
R7775:Setd6	UTSW	8	96,442,866 (GRCm39)	missense	probably benign	0.05
R7778:Setd6	UTSW	8	96,442,866 (GRCm39)	missense	probably benign	0.05
R7824:Setd6	UTSW	8	96,442,866 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAGCATCCCATGTTTTGGTGAG -3'
(R):5'- AGGGACCTGGAGTTCACTGTTC -3'

Sequencing Primer
(F):5'- CCCATGTTTTGGTGAGAGCCG -3'
(R):5'- GACCTGGAGTTCACTGTTCTTTCC -3'

Posted On

2020-01-23