Mutagenetix > Incidental Mutation

Incidental Mutation 'R5691:Setd3'

443702

Institutional Source

Beutler Lab

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

D12Ertd771e, 2610102I01Rik, 2610305M23Rik

MMRRC Submission

043324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108072690-108145573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108126544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 98 (M98K)

Ref Sequence

ENSEMBL: ENSMUSP00000105505 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

probably benign
Transcript: ENSMUST00000071095
AA Change: M98K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: M98K

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
AA Change: M98K

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: M98K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125916
AA Change: M105K

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
AA Change: M105K

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

Meta Mutation Damage Score

0.3404

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410022M11Rik	A	G	14: 57,049,830 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,890,970 (GRCm39)	M509K	probably damaging	Het
Ap4m1	A	G	5: 138,170,653 (GRCm39)	Y34C	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Bcl10	C	T	3: 145,638,904 (GRCm39)	T182I	probably benign	Het
Cdc123	T	A	2: 5,827,986 (GRCm39)	N87I	probably benign	Het
Cfap46	T	C	7: 139,186,616 (GRCm39)	E2431G	possibly damaging	Het
Dcc	T	C	18: 71,708,154 (GRCm39)	T521A	probably damaging	Het
Defb46	T	A	8: 19,292,149 (GRCm39)	I55K	probably benign	Het
Dlgap4	A	G	2: 156,546,390 (GRCm39)	T353A	probably benign	Het
Eqtn	C	A	4: 94,811,965 (GRCm39)		probably null	Het
Ermn	A	T	2: 57,937,776 (GRCm39)	M279K	probably damaging	Het
Fan1	C	A	7: 64,004,118 (GRCm39)		probably null	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Hectd4	A	G	5: 121,486,878 (GRCm39)	D3291G	possibly damaging	Het
Hid1	A	G	11: 115,239,645 (GRCm39)	W762R	probably damaging	Het
Idi2l	A	T	13: 8,992,693 (GRCm39)	Y91*	probably null	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Inpp4b	T	A	8: 82,617,323 (GRCm39)		probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Jph1	T	G	1: 17,074,587 (GRCm39)	Q477P	probably benign	Het
Kdm4c	A	T	4: 74,252,965 (GRCm39)	I511L	probably benign	Het
Lrp2	T	C	2: 69,332,897 (GRCm39)	D1540G	probably damaging	Het
Lrrc69	T	A	4: 14,769,648 (GRCm39)	I168F	probably damaging	Het
Mgat4e	A	T	1: 134,468,729 (GRCm39)		probably benign	Het
Mroh7	C	A	4: 106,559,815 (GRCm39)	G704V	probably damaging	Het
Nadsyn1	C	T	7: 143,366,316 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,250,774 (GRCm39)	C303S	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Nrcam	T	C	12: 44,611,039 (GRCm39)	Y554H	probably damaging	Het
Nubpl	G	A	12: 52,152,059 (GRCm39)		probably benign	Het
Oasl2	C	A	5: 115,037,828 (GRCm39)	T75K	possibly damaging	Het
Or8h9	A	T	2: 86,789,616 (GRCm39)	F62Y	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Parp14	A	G	16: 35,683,909 (GRCm39)	V139A	probably benign	Het
Pgam5	G	A	5: 110,414,959 (GRCm39)	P85S	probably damaging	Het
Phpt1	T	C	2: 25,463,707 (GRCm39)	Y96C	probably damaging	Het
Plekhm2	A	C	4: 141,355,600 (GRCm39)	S867A	possibly damaging	Het
Pramel26	A	T	4: 143,538,579 (GRCm39)	W131R	probably benign	Het
Prss21	A	G	17: 24,087,759 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,563,254 (GRCm39)	Y108N	probably damaging	Het
Riox1	C	T	12: 83,998,466 (GRCm39)	T334I	possibly damaging	Het
Rps3a2	G	T	14: 88,360,483 (GRCm39)		noncoding transcript	Het
Selenot	C	T	3: 58,493,447 (GRCm39)	A108V	probably benign	Het
Slc22a27	T	C	19: 7,904,035 (GRCm39)	H34R	possibly damaging	Het
Slco1a8	A	T	6: 141,940,581 (GRCm39)	Y93*	probably null	Het
Sp3	A	G	2: 72,801,803 (GRCm39)	L70S	probably damaging	Het
Syne2	TCCAGGTAGGGCACACC	TCC	12: 76,074,630 (GRCm39)		probably null	Het
Tcl1b4	C	A	12: 105,168,806 (GRCm39)	D23E	possibly damaging	Het
Tespa1	T	A	10: 130,190,638 (GRCm39)		probably null	Het
Tmc7	T	C	7: 118,141,116 (GRCm39)	I672V	probably benign	Het
Trps1	T	A	15: 50,690,700 (GRCm39)	Q14L	probably benign	Het
Vmn2r73	A	G	7: 85,507,299 (GRCm39)	V671A	probably damaging	Het
Zfp106	G	A	2: 120,354,952 (GRCm39)	S1273F	probably damaging	Het
Zfp90	C	A	8: 107,151,710 (GRCm39)	Y474*	probably null	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
IGL02878:Setd3	APN	12	108,074,814 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AATGCTGTCAGACTGAGGCC -3'
(R):5'- GCTCTGCCTTTATGCTCTAGAG -3'

Sequencing Primer
(F):5'- TGGAGAATGCTGCCTACATAC -3'
(R):5'- CTAGAGCCATGTGATGAAATGTGTCC -3'

Posted On

2016-11-09