Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Setd6'

598834

Institutional Source

Beutler Lab

Gene Symbol

Setd6

Ensembl Gene

ENSMUSG00000031671

Gene Name

SET domain containing 6

Synonyms

0610039J04Rik

MMRRC Submission

045831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96442509-96445638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96442866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 101 (H101L)

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: H101L

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

SMART Domains

Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671
AA Change: H101L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148727

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

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Car4	T	C	11: 84,856,449 (GRCm39)	S246P	probably damaging	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kif26b	T	A	1: 178,692,441 (GRCm39)	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly 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
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
R8049:Setd6	UTSW	8	96,443,316 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGTAGAAACGCCCAGCTCC -3'
(R):5'- ACATGGGATGCTCCAAACGC -3'

Sequencing Primer
(F):5'- AAGCGCAGTGAGGACCC -3'
(R):5'- TAAGGGCTCCAGGGTGATGC -3'

Posted On

2019-11-26