Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02878:Setd3'

362727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

D12Ertd771e, 2610102I01Rik, 2610305M23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

108072690-108145573 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 108074814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066413 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

probably null
Transcript: ENSMUST00000071095

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770

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

noncoding transcript
Transcript: ENSMUST00000125210

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

noncoding transcript
Transcript: ENSMUST00000148119

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Abce1	T	C	8: 80,429,636 (GRCm39)	H95R	possibly damaging	Het
Axl	T	A	7: 25,458,302 (GRCm39)	M818L	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Cdc40	T	C	10: 40,719,118 (GRCm39)	D337G	probably damaging	Het
Cep70	T	C	9: 99,163,160 (GRCm39)		probably benign	Het
Cpeb1	C	T	7: 81,007,074 (GRCm39)	V318I	probably damaging	Het
Crlf1	G	A	8: 70,956,290 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,009,570 (GRCm39)	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,413,329 (GRCm39)	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 35,129,743 (GRCm39)	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,429,304 (GRCm39)		probably benign	Het
Gpr61	A	T	3: 108,057,344 (GRCm39)	L439H	probably damaging	Het
Klf9	G	T	19: 23,119,633 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,707,261 (GRCm39)	Y309C	probably damaging	Het
Lrrk1	T	C	7: 65,912,311 (GRCm39)	M1750V	probably benign	Het
Mc1r	G	T	8: 124,134,369 (GRCm39)	G41C	probably damaging	Het
Mecr	C	A	4: 131,582,019 (GRCm39)	A133E	probably damaging	Het
Mon2	T	C	10: 122,842,896 (GRCm39)	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,403,595 (GRCm39)	L106*	probably null	Het
Mrpl48	A	T	7: 100,223,720 (GRCm39)	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,559,859 (GRCm39)	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,815,583 (GRCm39)		probably null	Het
Myrfl	A	T	10: 116,613,310 (GRCm39)	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,797,657 (GRCm39)	Y671N	probably damaging	Het
Opalin	A	T	19: 41,056,108 (GRCm39)	D62E	probably benign	Het
Or1j18	A	T	2: 36,624,489 (GRCm39)	D52V	probably damaging	Het
Or7a41	G	T	10: 78,871,392 (GRCm39)	C254F	probably benign	Het
Otoa	T	C	7: 120,743,076 (GRCm39)	F768L	probably damaging	Het
Pde4b	T	A	4: 102,458,836 (GRCm39)	N497K	probably damaging	Het
Plcl2	T	A	17: 50,914,383 (GRCm39)	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,566,379 (GRCm39)	*357R	probably null	Het
Ryr2	A	G	13: 11,933,205 (GRCm39)	S89P	probably benign	Het
Sema3b	C	T	9: 107,478,192 (GRCm39)	V398I	probably damaging	Het
Sgsh	T	C	11: 119,237,384 (GRCm39)	D410G	probably damaging	Het
Slc9a3	G	T	13: 74,313,476 (GRCm39)	E730*	probably null	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Tmem132c	T	C	5: 127,640,154 (GRCm39)	L775P	probably damaging	Het
Togaram1	T	C	12: 65,039,400 (GRCm39)	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,607,222 (GRCm39)	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,965,469 (GRCm39)	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,510,588 (GRCm39)	H443L	probably benign	Het

Other mutations in Setd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Setd3	APN	12	108,126,496 (GRCm39)	missense	probably damaging	1.00
IGL01365:Setd3	APN	12	108,124,165 (GRCm39)	missense	probably damaging	1.00
IGL02031:Setd3	APN	12	108,129,289 (GRCm39)	missense	probably damaging	1.00
IGL02826:Setd3	APN	12	108,078,383 (GRCm39)	unclassified	probably benign
IGL03039:Setd3	APN	12	108,129,229 (GRCm39)	splice site	probably null
R0332:Setd3	UTSW	12	108,073,838 (GRCm39)	missense	probably benign
R1644:Setd3	UTSW	12	108,079,603 (GRCm39)	missense	possibly damaging	0.88
R1776:Setd3	UTSW	12	108,131,420 (GRCm39)	missense	probably damaging	1.00
R2018:Setd3	UTSW	12	108,084,513 (GRCm39)	missense	probably damaging	1.00
R2025:Setd3	UTSW	12	108,126,526 (GRCm39)	missense	probably damaging	1.00
R2041:Setd3	UTSW	12	108,079,651 (GRCm39)	missense	possibly damaging	0.84
R2058:Setd3	UTSW	12	108,073,600 (GRCm39)	missense	probably benign	0.03
R2206:Setd3	UTSW	12	108,073,544 (GRCm39)	missense	probably benign	0.11
R2207:Setd3	UTSW	12	108,073,544 (GRCm39)	missense	probably benign	0.11
R3973:Setd3	UTSW	12	108,131,417 (GRCm39)	missense	possibly damaging	0.93
R3976:Setd3	UTSW	12	108,131,417 (GRCm39)	missense	possibly damaging	0.93
R3978:Setd3	UTSW	12	108,124,201 (GRCm39)	missense	possibly damaging	0.63
R4684:Setd3	UTSW	12	108,074,949 (GRCm39)	missense	probably benign	0.05
R4965:Setd3	UTSW	12	108,079,630 (GRCm39)	missense	probably benign	0.29
R5691:Setd3	UTSW	12	108,126,544 (GRCm39)	missense	probably benign	0.19
R5990:Setd3	UTSW	12	108,126,594 (GRCm39)	missense	probably benign
R6198:Setd3	UTSW	12	108,131,427 (GRCm39)	missense	possibly damaging	0.66
R6241:Setd3	UTSW	12	108,124,114 (GRCm39)	missense	probably benign	0.24
R6428:Setd3	UTSW	12	108,079,597 (GRCm39)	missense	probably damaging	0.99
R7652:Setd3	UTSW	12	108,078,548 (GRCm39)	missense	probably damaging	1.00
R7913:Setd3	UTSW	12	108,073,924 (GRCm39)	missense	probably benign	0.37
R8221:Setd3	UTSW	12	108,073,612 (GRCm39)	missense	possibly damaging	0.91
R9585:Setd3	UTSW	12	108,074,814 (GRCm39)	critical splice donor site	probably null
X0052:Setd3	UTSW	12	108,073,924 (GRCm39)	missense	probably benign	0.37

Posted On

2015-12-18