Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Setd3'

228396

Institutional Source

Beutler Lab

Gene Symbol

Setd3

Ensembl Gene

ENSMUSG00000056770

Gene Name

SET domain containing 3

Synonyms

2610305M23Rik, 2610102I01Rik, D12Ertd771e

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2058 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

108106431-108179314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108107341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 559 (I559T)

Ref Sequence

ENSEMBL: ENSMUSP00000066413 (fasta)

Gene Model

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

AlphaFold

Q91WC0

Predicted Effect

probably benign
Transcript: ENSMUST00000071095
AA Change: I559T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: I559T

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

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 24,672,066 (GRCm38)		probably benign	Het
Adgrf5	A	G	17: 43,428,586 (GRCm38)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,241,290 (GRCm38)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,443,750 (GRCm38)		probably benign	Het
Ano1	A	G	7: 144,648,052 (GRCm38)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,854,908 (GRCm38)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,722,377 (GRCm38)	K238R	unknown	Het
Atf6b	A	T	17: 34,648,575 (GRCm38)		probably null	Het
Atp2a1	G	A	7: 126,447,672 (GRCm38)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,217,225 (GRCm38)	N509K	probably benign	Het
BC051076	A	T	5: 87,963,985 (GRCm38)		noncoding transcript	Het
Cage1	A	G	13: 38,023,380 (GRCm38)	V163A	probably benign	Het
Canx	T	C	11: 50,304,425 (GRCm38)	N272S	probably damaging	Het
Cd302	T	A	2: 60,252,423 (GRCm38)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,872,750 (GRCm38)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,519,261 (GRCm38)		probably null	Het
Cmtm4	A	C	8: 104,355,288 (GRCm38)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,210,792 (GRCm38)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,834,902 (GRCm38)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,403,814 (GRCm38)	I363F	probably damaging	Het
Dmbt1	G	A	7: 131,106,170 (GRCm38)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 19,080,727 (GRCm38)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,891,170 (GRCm38)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,285,957 (GRCm38)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,109,954 (GRCm38)	M1V	probably null	Het
Gna14	G	C	19: 16,608,141 (GRCm38)		probably benign	Het
Gsk3b	T	A	16: 38,187,909 (GRCm38)	D192E	probably benign	Het
Gulo	A	G	14: 65,991,159 (GRCm38)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,768,051 (GRCm38)	D904V	probably damaging	Het
Il7	A	T	3: 7,573,915 (GRCm38)	N130K	probably damaging	Het
Jak3	A	T	8: 71,685,383 (GRCm38)		probably null	Het
Klhl6	T	G	16: 19,982,931 (GRCm38)	T25P	probably benign	Het
Kremen2	T	C	17: 23,742,717 (GRCm38)	E272G	possibly damaging	Het
Map3k21	A	G	8: 125,938,722 (GRCm38)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,376,751 (GRCm38)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,549,333 (GRCm38)	E204G	probably damaging	Het
Msh5	A	C	17: 35,029,756 (GRCm38)	V738G	probably damaging	Het
Mybph	G	A	1: 134,200,119 (GRCm38)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,500,473 (GRCm38)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,557,362 (GRCm38)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,143,644 (GRCm38)	T1336A	probably benign	Het
Nsun4	T	C	4: 116,053,680 (GRCm38)		probably null	Het
Or1e30	A	G	11: 73,787,274 (GRCm38)	N112S	probably benign	Het
Or5m10	A	T	2: 85,886,952 (GRCm38)	T51S	possibly damaging	Het
Osgin1	A	G	8: 119,445,673 (GRCm38)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,932,147 (GRCm38)	E479G	possibly damaging	Het
Pbsn	T	C	X: 77,847,976 (GRCm38)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,444,567 (GRCm38)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,750,680 (GRCm38)	V131I	probably benign	Het
Pkn2	G	A	3: 142,853,471 (GRCm38)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,275,168 (GRCm38)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,622,844 (GRCm38)		probably benign	Het
Prkdc	A	G	16: 15,727,605 (GRCm38)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,319,098 (GRCm38)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,000,817 (GRCm38)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 69,794,039 (GRCm38)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,744,142 (GRCm38)	L372*	probably null	Het
Rnf126	A	G	10: 79,759,137 (GRCm38)		probably benign	Het
S100pbp	A	G	4: 129,182,100 (GRCm38)	V144A	probably benign	Het
Saal1	T	C	7: 46,699,456 (GRCm38)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,642,772 (GRCm38)	G277R	probably damaging	Het
Senp2	C	T	16: 22,014,199 (GRCm38)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,156,871 (GRCm38)	C81*	probably null	Het
Set	A	G	2: 30,069,036 (GRCm38)	K70E	possibly damaging	Het
Sik1	A	G	17: 31,848,797 (GRCm38)	S435P	probably benign	Het
Skint3	A	T	4: 112,255,783 (GRCm38)	K197*	probably null	Het
Skint5	T	A	4: 113,870,700 (GRCm38)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,043,961 (GRCm38)	T350M	probably damaging	Het
Slc19a3	A	T	1: 83,014,791 (GRCm38)	I403K	probably damaging	Het
Slc1a7	C	T	4: 108,004,439 (GRCm38)	T225I	probably benign	Het
Slc38a4	T	C	15: 97,008,725 (GRCm38)	I336V	probably benign	Het
Smarcc1	A	G	9: 110,118,343 (GRCm38)		probably benign	Het
St8sia5	A	T	18: 77,254,763 (GRCm38)	I390F	probably damaging	Het
Strc	A	T	2: 121,378,887 (GRCm38)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm38)	D1858G	possibly damaging	Het
Sympk	G	A	7: 19,043,529 (GRCm38)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,427,006 (GRCm38)	K212N	probably damaging	Het
Tgm4	T	C	9: 123,061,770 (GRCm38)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,180,174 (GRCm38)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,106 (GRCm38)		probably benign	Het
Trim12c	A	G	7: 104,348,191 (GRCm38)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,737,693 (GRCm38)	D1849E	probably benign	Het
Ubap2l	A	T	3: 90,031,376 (GRCm38)		probably benign	Het
Umodl1	G	A	17: 31,008,766 (GRCm38)		probably null	Het
Usp17la	A	C	7: 104,861,171 (GRCm38)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 22,958,249 (GRCm38)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,447 (GRCm38)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,812,285 (GRCm38)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,263,406 (GRCm38)	E158G	unknown	Het
Zfp362	T	G	4: 128,786,987 (GRCm38)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,257,366 (GRCm38)	D513G	probably benign	Het
Zfp879	C	T	11: 50,832,601 (GRCm38)	E543K	probably benign	Het
Zfp97	T	A	17: 17,144,756 (GRCm38)	N172K	possibly damaging	Het
Zmym6	A	T	4: 127,088,415 (GRCm38)	K82*	probably null	Het

Other mutations in Setd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Setd3	APN	12	108,160,237 (GRCm38)	missense	probably damaging	1.00
IGL01365:Setd3	APN	12	108,157,906 (GRCm38)	missense	probably damaging	1.00
IGL02031:Setd3	APN	12	108,163,030 (GRCm38)	missense	probably damaging	1.00
IGL02826:Setd3	APN	12	108,112,124 (GRCm38)	unclassified	probably benign
IGL02878:Setd3	APN	12	108,108,555 (GRCm38)	critical splice donor site	probably null
IGL03039:Setd3	APN	12	108,162,970 (GRCm38)	splice site	probably null
R0332:Setd3	UTSW	12	108,107,579 (GRCm38)	missense	probably benign
R1644:Setd3	UTSW	12	108,113,344 (GRCm38)	missense	possibly damaging	0.88
R1776:Setd3	UTSW	12	108,165,161 (GRCm38)	missense	probably damaging	1.00
R2018:Setd3	UTSW	12	108,118,254 (GRCm38)	missense	probably damaging	1.00
R2025:Setd3	UTSW	12	108,160,267 (GRCm38)	missense	probably damaging	1.00
R2041:Setd3	UTSW	12	108,113,392 (GRCm38)	missense	possibly damaging	0.84
R2206:Setd3	UTSW	12	108,107,285 (GRCm38)	missense	probably benign	0.11
R2207:Setd3	UTSW	12	108,107,285 (GRCm38)	missense	probably benign	0.11
R3973:Setd3	UTSW	12	108,165,158 (GRCm38)	missense	possibly damaging	0.93
R3976:Setd3	UTSW	12	108,165,158 (GRCm38)	missense	possibly damaging	0.93
R3978:Setd3	UTSW	12	108,157,942 (GRCm38)	missense	possibly damaging	0.63
R4684:Setd3	UTSW	12	108,108,690 (GRCm38)	missense	probably benign	0.05
R4965:Setd3	UTSW	12	108,113,371 (GRCm38)	missense	probably benign	0.29
R5691:Setd3	UTSW	12	108,160,285 (GRCm38)	missense	probably benign	0.19
R5990:Setd3	UTSW	12	108,160,335 (GRCm38)	missense	probably benign
R6198:Setd3	UTSW	12	108,165,168 (GRCm38)	missense	possibly damaging	0.66
R6241:Setd3	UTSW	12	108,157,855 (GRCm38)	missense	probably benign	0.24
R6428:Setd3	UTSW	12	108,113,338 (GRCm38)	missense	probably damaging	0.99
R7652:Setd3	UTSW	12	108,112,289 (GRCm38)	missense	probably damaging	1.00
R7913:Setd3	UTSW	12	108,107,665 (GRCm38)	missense	probably benign	0.37
R8221:Setd3	UTSW	12	108,107,353 (GRCm38)	missense	possibly damaging	0.91
R9585:Setd3	UTSW	12	108,108,555 (GRCm38)	critical splice donor site	probably null
X0052:Setd3	UTSW	12	108,107,665 (GRCm38)	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

2014-09-17