Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01365:Setd3'

75915

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

2610305M23Rik, 2610102I01Rik, D12Ertd771e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

108106431-108179314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108157906 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 175 (Y175N)

Ref Sequence

ENSEMBL: ENSMUSP00000105505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071095] [ENSMUST00000109879] [ENSMUST00000125916] [ENSMUST00000132682] [ENSMUST00000147466]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071095
AA Change: Y175N

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

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: Y175N

Domain	Start	End	E-Value	Type
Pfam:SET	105	314	2.1e-12	PFAM
Pfam:Rubis-subs-bind	345	475	3.7e-31	PFAM
low complexity region	565	577	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109879
AA Change: Y175N

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

SMART Domains

Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: Y175N

Domain	Start	End	E-Value	Type
Pfam:SET	105	287	6.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125916

SMART Domains

Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770

Domain	Start	End	E-Value	Type
PDB:3SMT\|A	9	155	1e-100	PDB
Blast:SET	101	155	5e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132682

SMART Domains

Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770

Domain	Start	End	E-Value	Type
PDB:3SMT\|A	2	58	3e-30	PDB
SCOP:d1epua_	50	79	6e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147466

SMART Domains

Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770

Domain	Start	End	E-Value	Type
PDB:3SMT\|A	2	58	3e-30	PDB
SCOP:d1epua_	50	79	6e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169951

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	G	T	8: 83,723,889		probably null	Het
Agtr1a	A	G	13: 30,381,828	Y292C	probably damaging	Het
Btbd11	T	C	10: 85,633,816	V867A	possibly damaging	Het
CK137956	A	G	4: 127,951,342	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 105,005,030	T513A	probably damaging	Het
Dppa2	A	G	16: 48,313,913	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,593,523	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,904,984	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,790,907	L223Q	probably damaging	Het
Lrrk1	A	G	7: 66,287,701	I901T	probably damaging	Het
Macf1	T	C	4: 123,391,169	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089	Y428*	probably null	Het
Myb	A	G	10: 21,152,502	I154T	probably benign	Het
Olfr294	T	C	7: 86,615,997	Y216C	probably damaging	Het
Parp9	C	T	16: 35,947,954	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,491,413		probably benign	Het
Ptar1	T	A	19: 23,705,801	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,098,317	D400E	probably benign	Het
Slc5a8	C	T	10: 88,892,097		probably benign	Het
Slc8a3	A	G	12: 81,315,376	V223A	probably damaging	Het
Srsf1	G	T	11: 88,049,181	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878		probably null	Het
Tead2	T	A	7: 45,217,251	D11E	probably damaging	Het
Trappc12	T	A	12: 28,747,402	I44F	probably damaging	Het
Ttll9	T	C	2: 153,000,134	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,191	N6K	possibly damaging	Het

Other mutations in Setd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Setd3	APN	12	108160237	missense	probably damaging	1.00
IGL02031:Setd3	APN	12	108163030	missense	probably damaging	1.00
IGL02826:Setd3	APN	12	108112124	unclassified	probably benign
IGL02878:Setd3	APN	12	108108555	critical splice donor site	probably null
IGL03039:Setd3	APN	12	108162970	splice site	probably null
R0332:Setd3	UTSW	12	108107579	missense	probably benign
R1644:Setd3	UTSW	12	108113344	missense	possibly damaging	0.88
R1776:Setd3	UTSW	12	108165161	missense	probably damaging	1.00
R2018:Setd3	UTSW	12	108118254	missense	probably damaging	1.00
R2025:Setd3	UTSW	12	108160267	missense	probably damaging	1.00
R2041:Setd3	UTSW	12	108113392	missense	possibly damaging	0.84
R2058:Setd3	UTSW	12	108107341	missense	probably benign	0.03
R2206:Setd3	UTSW	12	108107285	missense	probably benign	0.11
R2207:Setd3	UTSW	12	108107285	missense	probably benign	0.11
R3973:Setd3	UTSW	12	108165158	missense	possibly damaging	0.93
R3976:Setd3	UTSW	12	108165158	missense	possibly damaging	0.93
R3978:Setd3	UTSW	12	108157942	missense	possibly damaging	0.63
R4684:Setd3	UTSW	12	108108690	missense	probably benign	0.05
R4965:Setd3	UTSW	12	108113371	missense	probably benign	0.29
R5691:Setd3	UTSW	12	108160285	missense	probably benign	0.19
R5990:Setd3	UTSW	12	108160335	missense	probably benign
R6198:Setd3	UTSW	12	108165168	missense	possibly damaging	0.66
R6241:Setd3	UTSW	12	108157855	missense	probably benign	0.24
R6428:Setd3	UTSW	12	108113338	missense	probably damaging	0.99
X0052:Setd3	UTSW	12	108107665	missense	probably benign	0.37

Posted On

2013-10-07