Mutagenetix > Incidental Mutations

Incidental Mutation 'R6428:Setd3'

518397

Institutional Source

Beutler Lab

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

2610305M23Rik, 2610102I01Rik, D12Ertd771e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6428 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

108106431-108179314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108113338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 302 (D302G)

Ref Sequence

ENSEMBL: ENSMUSP00000066413 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000071095
AA Change: D302G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: D302G

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 benign
Transcript: ENSMUST00000109879

SMART Domains

Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770

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

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

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: ENSMUST00000148119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169951

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,602,436		probably benign	Het
Cts6	T	G	13: 61,196,423	N272H	probably damaging	Het
Daam2	C	T	17: 49,469,376	E828K	probably damaging	Het
Dhx9	C	T	1: 153,456,578		probably benign	Het
Glb1l3	T	C	9: 26,859,452	N106S	probably damaging	Het
Gm1141	CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC	CATCTTTACCATCATGTCAAGTATCTTTACC	X: 71,939,520		probably benign	Homo
Hdlbp	T	C	1: 93,431,445	D175G	possibly damaging	Het
Hectd4	A	G	5: 121,350,445	K3600E	possibly damaging	Het
Hspa13	A	T	16: 75,757,986	L404Q	probably damaging	Het
Iws1	A	G	18: 32,086,290	D475G	probably damaging	Het
Klhdc10	T	C	6: 30,439,856	S13P	probably damaging	Het
Lepr	C	T	4: 101,780,098	T728I	probably damaging	Het
Ncapd3	A	G	9: 27,052,664		probably null	Het
Phb2	A	G	6: 124,715,991	D276G	probably benign	Het
Prrc2b	A	G	2: 32,226,496		probably null	Het
Rasgrf2	T	C	13: 91,987,981	K604R	probably damaging	Het
Rp1l1	T	A	14: 64,032,389	M1808K	possibly damaging	Het
Slc38a10	T	A	11: 120,105,472	Q933L	probably benign	Het
Slco1a1	A	G	6: 141,925,690	L250S	probably damaging	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r26	A	G	6: 124,026,080	I150V	probably benign	Het
Zfp318	C	T	17: 46,399,336	R662C	probably 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
IGL01365:Setd3	APN	12	108157906	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
R7652:Setd3	UTSW	12	108112289	missense	probably damaging	1.00
R7913:Setd3	UTSW	12	108107665	missense	probably benign	0.37
R8221:Setd3	UTSW	12	108107353	missense	possibly damaging	0.91
X0052:Setd3	UTSW	12	108107665	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GGTTCAGTTGTGCAAACAGC -3'
(R):5'- GACCCAGAAATGATGCACATTATC -3'

Sequencing Primer
(F):5'- CAGTTGTGCAAACAGCTACATTG -3'
(R):5'- CAGATTTGCAGTTTCCTGTACAG -3'

Posted On

2018-05-24