Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Setd3'

312954

Institutional Source

Beutler Lab

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

2610305M23Rik, 2610102I01Rik, D12Ertd771e

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108106431-108179314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108165158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 3 (K3R)

Ref Sequence

ENSEMBL: ENSMUSP00000066413 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071095
AA Change: K3R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: K3R

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: K3R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
AA Change: K3R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125916
AA Change: K10R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122520
Gene: ENSMUSG00000056770
AA Change: K10R

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
AA Change: K3R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770
AA Change: K3R

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
AA Change: K3R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770
AA Change: K3R

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

0.0761

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	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
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
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
R9585:Setd3	UTSW	12	108108555	critical splice donor site	probably null
X0052:Setd3	UTSW	12	108107665	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TAAACCCCTGCAGAGGAGTG -3'
(R):5'- GAGAAGGCGTGCACTTTGTC -3'

Sequencing Primer
(F):5'- GAGTGAAAGGCATGCCACCC -3'
(R):5'- CTGAGACTGCTGTGCATGC -3'

Posted On

2015-04-30