Mutagenetix > Incidental Mutation

Incidental Mutation 'R8221:Setd3'

636713

Institutional Source

Beutler Lab

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

2610305M23Rik, 2610102I01Rik, D12Ertd771e

MMRRC Submission

067639-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108106431-108179314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 108107353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 555 (G555A)

Ref Sequence

ENSEMBL: ENSMUSP00000066413 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071095
AA Change: G555A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: G555A

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: 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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,519,750	F134S	probably damaging	Het
Acsl5	T	C	19: 55,268,830		probably null	Het
Adam29	G	T	8: 55,872,428	N330K	probably benign	Het
Adgrv1	A	G	13: 81,528,914	S1933P	probably benign	Het
Afap1l2	T	C	19: 56,914,392	H785R	probably damaging	Het
Ahnak	T	A	19: 9,010,436	L3028*	probably null	Het
Ajuba	T	C	14: 54,570,390	T462A	possibly damaging	Het
Ankrd36	A	G	11: 5,584,016	N289S	possibly damaging	Het
Ankrd46	A	T	15: 36,485,855	L84Q	probably damaging	Het
Ankrd54	T	G	15: 79,056,070	D163A	probably damaging	Het
Arhgef28	A	G	13: 98,145,556	L10P	probably benign	Het
Atm	A	T	9: 53,455,988		probably null	Het
Azin1	G	C	15: 38,492,328	F312L	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
C2cd4c	A	G	10: 79,612,648	S222P	probably damaging	Het
Cdyl	A	G	13: 35,816,164	T143A	probably benign	Het
Clhc1	G	A	11: 29,553,751	V56I	possibly damaging	Het
Cntn4	T	C	6: 106,509,510	S300P	probably benign	Het
Col12a1	A	G	9: 79,643,942	Y2131H	probably damaging	Het
Cyp3a41b	A	G	5: 145,569,380	S287P	probably benign	Het
Dctn4	A	G	18: 60,556,329	D424G	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dopey2	A	G	16: 93,749,959	T284A	probably benign	Het
E330034G19Rik	A	C	14: 24,296,067		probably null	Het
Ehhadh	G	A	16: 21,762,623	P540S	possibly damaging	Het
Emsy	T	C	7: 98,647,904	E24G	probably damaging	Het
F930015N05Rik	A	C	11: 64,435,592	L74W	unknown	Het
Fat1	A	G	8: 44,953,353	D1047G		Het
Galnt7	A	G	8: 57,552,566	V211A	possibly damaging	Het
Gdap2	T	C	3: 100,202,295	C543R	unknown	Het
Ghr	A	C	15: 3,333,419	D190E	probably benign	Het
Glrx	A	G	13: 75,847,227	M89V	probably benign	Het
Gm10323	A	C	13: 66,852,795	Y91*	noncoding transcript	Het
Gnb4	A	T	3: 32,590,035	D153E	possibly damaging	Het
Gnptab	G	T	10: 88,440,392		probably null	Het
Grip2	T	C	6: 91,785,684	D193G	possibly damaging	Het
Igsf3	T	C	3: 101,439,722	W658R	probably damaging	Het
Ip6k1	T	A	9: 108,045,916	F416I	probably benign	Het
Klhl1	T	G	14: 96,280,110	T377P	possibly damaging	Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lrrfip1	T	C	1: 91,115,156	S428P	probably benign	Het
Megf10	A	G	18: 57,283,821	D754G	probably benign	Het
Mrgprx2	T	A	7: 48,482,779	Y97F	probably benign	Het
Msantd2	T	G	9: 37,489,388	V22G	probably damaging	Het
Myl6b	T	C	10: 128,497,340	K11R	unknown	Het
Nab2	C	A	10: 127,662,776	V475L	probably benign	Het
Npas1	T	C	7: 16,455,965	E552G	probably damaging	Het
Pknox2	T	C	9: 36,909,744	N274S	possibly damaging	Het
Pmepa1	A	T	2: 173,227,907	L247Q	probably damaging	Het
Poll	T	C	19: 45,553,608	K420E	probably damaging	Het
Polr2a	A	G	11: 69,737,518	V1283A	probably benign	Het
Ppil4	A	T	10: 7,795,680	Y36F	probably benign	Het
Psd2	C	T	18: 35,980,425	R317W	probably damaging	Het
Pspc1	T	A	14: 56,778,159	M1L	probably benign	Het
Qrsl1	A	T	10: 43,882,084	F338I	possibly damaging	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Sbno2	G	A	10: 80,070,011	P157L	probably benign	Het
Scn10a	C	T	9: 119,617,763	V1400I	probably damaging	Het
Slc12a4	A	T	8: 105,951,969	M245K	probably benign	Het
Slc1a5	T	A	7: 16,781,977	L26Q	probably benign	Het
Slc38a3	T	G	9: 107,657,709	M156L	probably damaging	Het
Slc45a2	A	T	15: 11,001,147	I111F	probably benign	Het
Slc4a3	T	A	1: 75,552,166	M491K	probably benign	Het
Son	A	G	16: 91,656,846	D827G	probably damaging	Het
Sppl2c	A	T	11: 104,186,884	H170L	probably damaging	Het
St6gal2	T	A	17: 55,490,934		probably null	Het
Taf4b	T	A	18: 14,898,049	L830H	probably damaging	Het
Tex22	A	G	12: 113,075,076		probably null	Het
Tiam2	C	T	17: 3,518,585	R1669C	probably damaging	Het
Tmprss15	T	A	16: 79,024,335	N506I	probably damaging	Het
Topors	A	T	4: 40,260,686	I866K	unknown	Het
Trip12	G	T	1: 84,766,050	T512K	possibly damaging	Het
Ubr1	T	A	2: 120,961,104	H133L	probably damaging	Het
Wwtr1	T	C	3: 57,459,020	D422G	probably damaging	Het
Zfp689	A	C	7: 127,444,586	C291G	probably damaging	Het
Zfyve9	A	G	4: 108,719,680	L68P	possibly damaging	Het
Zswim5	G	T	4: 116,878,022	R188L	probably benign	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
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
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'- TGTTAACAAGGAACATGGTGATGTG -3'
(R):5'- ATTGCGCTTGGGTGAAAAGG -3'

Sequencing Primer
(F):5'- GGTGGGCTGTCCGAAACTTC -3'
(R):5'- TACTACCGTAAACACATGGAGG -3'

Posted On

2020-07-13