Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Yeats2'

659219

Institutional Source

Beutler Lab

Gene Symbol

Yeats2

Ensembl Gene

ENSMUSG00000041215

Gene Name

YEATS domain containing 2

Synonyms

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19959813-20051323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19977926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 137 (R137W)

Ref Sequence

ENSEMBL: ENSMUSP00000155891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090052] [ENSMUST00000115560] [ENSMUST00000231705] [ENSMUST00000232019] [ENSMUST00000232338]

AlphaFold

Q3TUF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000090052
AA Change: R140W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: R140W

Domain	Start	End	E-Value	Type
Pfam:YEATS	179	262	2.6e-27	PFAM
low complexity region	299	309	N/A	INTRINSIC
low complexity region	312	333	N/A	INTRINSIC
low complexity region	409	429	N/A	INTRINSIC
low complexity region	458	467	N/A	INTRINSIC
internal_repeat_1	471	675	3.72e-6	PROSPERO
low complexity region	683	702	N/A	INTRINSIC
low complexity region	738	775	N/A	INTRINSIC
internal_repeat_1	785	978	3.72e-6	PROSPERO
low complexity region	1240	1249	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115560
AA Change: R193W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: R193W

Domain	Start	End	E-Value	Type
Pfam:YEATS	232	314	2.1e-28	PFAM
low complexity region	352	362	N/A	INTRINSIC
low complexity region	365	386	N/A	INTRINSIC
low complexity region	462	482	N/A	INTRINSIC
low complexity region	511	520	N/A	INTRINSIC
internal_repeat_1	524	728	4.68e-6	PROSPERO
low complexity region	736	755	N/A	INTRINSIC
low complexity region	791	828	N/A	INTRINSIC
internal_repeat_1	838	1031	4.68e-6	PROSPERO
low complexity region	1293	1302	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231705
AA Change: R193W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232019
AA Change: R156W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232338
AA Change: R137W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.2672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

Allele List at MGI

All alleles(34) : Targeted(1) Gene trapped(33)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,229,328 (GRCm39)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,784,493 (GRCm39)	S1154T	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm39)	S2434T	possibly damaging	Het
Crybg2	T	C	4: 133,808,514 (GRCm39)	S1372P	probably damaging	Het
Dock5	A	G	14: 68,031,425 (GRCm39)	Y1002H	probably benign	Het
Dst	T	C	1: 34,225,082 (GRCm39)	S1163P	probably damaging	Het
Fah	A	T	7: 84,250,305 (GRCm39)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,296,466 (GRCm39)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm39)	L37F	probably damaging	Het
Gm10750	A	G	2: 148,857,888 (GRCm39)	V121A	unknown	Het
Klhl25	G	A	7: 75,515,843 (GRCm39)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,730,812 (GRCm39)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,571,662 (GRCm39)	D353V	probably damaging	Het
Myh8	G	A	11: 67,169,741 (GRCm39)	R20Q	probably damaging	Het
Or4c127	G	A	2: 89,833,511 (GRCm39)	V254M	probably benign	Het
Or6c200-ps1	T	C	10: 128,869,892 (GRCm39)	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pkn3	A	T	2: 29,969,936 (GRCm39)		probably null	Het
Ptpn21	T	A	12: 98,646,285 (GRCm39)	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,779,433 (GRCm39)		probably null	Het
Sardh	T	A	2: 27,129,657 (GRCm39)	I263F	probably damaging	Het
Scart1	G	A	7: 139,804,634 (GRCm39)	V546M	probably benign	Het
Sh3bp5	A	G	14: 31,139,375 (GRCm39)	V66A	probably benign	Het
Styxl2	T	C	1: 165,928,730 (GRCm39)	D294G	probably benign	Het
Taf4b	T	A	18: 14,955,195 (GRCm39)	S583T	probably damaging	Het
Tbcb	G	A	7: 29,926,421 (GRCm39)	P132L	probably benign	Het
Tcirg1	A	G	19: 3,946,324 (GRCm39)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,220,985 (GRCm39)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,417 (GRCm39)	E368G	probably benign	Het
Trdv2-1	T	A	14: 54,183,972 (GRCm39)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,447,653 (GRCm39)	T1849I	probably benign	Het
Vav2	G	A	2: 27,161,841 (GRCm39)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm39)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 15,123,799 (GRCm39)	T558I	possibly damaging	Het

Other mutations in Yeats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Yeats2	APN	16	20,005,054 (GRCm39)	missense	probably damaging	0.99
IGL01128:Yeats2	APN	16	19,980,718 (GRCm39)	splice site	probably benign
IGL01139:Yeats2	APN	16	20,033,143 (GRCm39)	missense	probably damaging	1.00
IGL01394:Yeats2	APN	16	19,980,782 (GRCm39)	missense	probably damaging	0.99
IGL01482:Yeats2	APN	16	20,041,671 (GRCm39)	missense	probably damaging	1.00
IGL01924:Yeats2	APN	16	20,024,917 (GRCm39)	missense	probably damaging	1.00
IGL01925:Yeats2	APN	16	19,998,430 (GRCm39)	splice site	probably benign
IGL02106:Yeats2	APN	16	20,011,970 (GRCm39)	missense	possibly damaging	0.79
IGL02370:Yeats2	APN	16	19,969,221 (GRCm39)	missense	probably damaging	0.99
IGL02447:Yeats2	APN	16	20,012,429 (GRCm39)	missense	probably benign	0.00
IGL02669:Yeats2	APN	16	20,005,033 (GRCm39)	missense	probably benign	0.13
IGL03155:Yeats2	APN	16	20,048,323 (GRCm39)	critical splice donor site	probably null
tyrion	UTSW	16	20,032,151 (GRCm39)	splice site	probably benign
P0045:Yeats2	UTSW	16	19,975,695 (GRCm39)	missense	possibly damaging	0.47
R0051:Yeats2	UTSW	16	20,012,474 (GRCm39)	nonsense	probably null
R0051:Yeats2	UTSW	16	20,012,474 (GRCm39)	nonsense	probably null
R0118:Yeats2	UTSW	16	19,975,692 (GRCm39)	nonsense	probably null
R0157:Yeats2	UTSW	16	20,040,427 (GRCm39)	makesense	probably null
R0184:Yeats2	UTSW	16	20,022,435 (GRCm39)	missense	possibly damaging	0.79
R0194:Yeats2	UTSW	16	19,971,719 (GRCm39)	start codon destroyed	probably null	1.00
R0612:Yeats2	UTSW	16	20,005,175 (GRCm39)	missense	probably benign	0.00
R0655:Yeats2	UTSW	16	20,012,574 (GRCm39)	nonsense	probably null
R0826:Yeats2	UTSW	16	20,011,966 (GRCm39)	nonsense	probably null
R1526:Yeats2	UTSW	16	20,024,836 (GRCm39)	missense	probably damaging	1.00
R1535:Yeats2	UTSW	16	20,008,115 (GRCm39)	missense	probably damaging	0.99
R1749:Yeats2	UTSW	16	20,005,018 (GRCm39)	nonsense	probably null
R1842:Yeats2	UTSW	16	19,989,988 (GRCm39)	missense	probably damaging	1.00
R1843:Yeats2	UTSW	16	20,048,314 (GRCm39)	missense	probably benign	0.01
R1926:Yeats2	UTSW	16	20,033,176 (GRCm39)	missense	probably benign
R2000:Yeats2	UTSW	16	20,005,141 (GRCm39)	missense	probably benign	0.20
R2017:Yeats2	UTSW	16	19,977,931 (GRCm39)	missense	probably benign	0.01
R2076:Yeats2	UTSW	16	20,005,032 (GRCm39)	missense	possibly damaging	0.47
R2153:Yeats2	UTSW	16	19,972,916 (GRCm39)	missense	probably damaging	1.00
R2167:Yeats2	UTSW	16	20,032,151 (GRCm39)	splice site	probably benign
R2981:Yeats2	UTSW	16	20,005,051 (GRCm39)	missense	probably damaging	0.99
R3160:Yeats2	UTSW	16	20,012,395 (GRCm39)	missense	probably damaging	1.00
R3161:Yeats2	UTSW	16	20,012,395 (GRCm39)	missense	probably damaging	1.00
R3162:Yeats2	UTSW	16	20,012,395 (GRCm39)	missense	probably damaging	1.00
R3774:Yeats2	UTSW	16	19,969,245 (GRCm39)	missense	probably damaging	1.00
R4250:Yeats2	UTSW	16	19,975,685 (GRCm39)	missense	possibly damaging	0.90
R4305:Yeats2	UTSW	16	20,027,172 (GRCm39)	missense	probably damaging	1.00
R4455:Yeats2	UTSW	16	19,980,743 (GRCm39)	missense	possibly damaging	0.88
R4458:Yeats2	UTSW	16	20,032,071 (GRCm39)	missense	probably damaging	0.99
R4811:Yeats2	UTSW	16	19,971,645 (GRCm39)	splice site	probably null
R4902:Yeats2	UTSW	16	20,026,418 (GRCm39)	missense	probably benign	0.00
R5043:Yeats2	UTSW	16	20,027,215 (GRCm39)	missense	probably damaging	1.00
R5047:Yeats2	UTSW	16	20,027,215 (GRCm39)	missense	probably damaging	1.00
R5319:Yeats2	UTSW	16	20,005,175 (GRCm39)	missense	probably benign	0.01
R5328:Yeats2	UTSW	16	19,989,955 (GRCm39)	missense	probably damaging	1.00
R5360:Yeats2	UTSW	16	19,972,912 (GRCm39)	missense	probably damaging	0.97
R5416:Yeats2	UTSW	16	20,030,319 (GRCm39)	missense	probably benign	0.01
R5672:Yeats2	UTSW	16	19,980,779 (GRCm39)	missense	probably damaging	1.00
R5684:Yeats2	UTSW	16	20,012,553 (GRCm39)	missense	possibly damaging	0.94
R5932:Yeats2	UTSW	16	20,011,913 (GRCm39)	missense	probably benign	0.06
R5946:Yeats2	UTSW	16	20,026,513 (GRCm39)	nonsense	probably null
R6168:Yeats2	UTSW	16	19,998,308 (GRCm39)	missense	probably benign	0.01
R6169:Yeats2	UTSW	16	20,038,417 (GRCm39)	missense	probably damaging	1.00
R6179:Yeats2	UTSW	16	20,033,225 (GRCm39)	missense	probably benign	0.16
R6371:Yeats2	UTSW	16	20,040,460 (GRCm39)	missense	possibly damaging	0.54
R6877:Yeats2	UTSW	16	19,998,344 (GRCm39)	missense	probably benign	0.00
R7149:Yeats2	UTSW	16	19,972,939 (GRCm39)	missense	probably damaging	1.00
R7405:Yeats2	UTSW	16	20,041,663 (GRCm39)	missense	probably damaging	1.00
R8353:Yeats2	UTSW	16	20,041,637 (GRCm39)	nonsense	probably null
R8367:Yeats2	UTSW	16	20,041,575 (GRCm39)	missense	probably damaging	1.00
R8453:Yeats2	UTSW	16	20,041,637 (GRCm39)	nonsense	probably null
R8506:Yeats2	UTSW	16	19,971,684 (GRCm39)	missense	probably damaging	0.98
R8828:Yeats2	UTSW	16	19,969,260 (GRCm39)	missense	probably benign	0.45
R8905:Yeats2	UTSW	16	20,009,144 (GRCm39)	missense	probably benign	0.02
R8924:Yeats2	UTSW	16	19,969,312 (GRCm39)	critical splice donor site	probably null
R9087:Yeats2	UTSW	16	20,030,500 (GRCm39)	critical splice donor site	probably null
R9276:Yeats2	UTSW	16	19,975,786 (GRCm39)	missense	probably benign	0.34
R9338:Yeats2	UTSW	16	20,041,533 (GRCm39)	missense	probably damaging	0.99
R9338:Yeats2	UTSW	16	20,032,078 (GRCm39)	missense	possibly damaging	0.69
R9378:Yeats2	UTSW	16	20,033,228 (GRCm39)	missense	probably benign
R9569:Yeats2	UTSW	16	19,972,902 (GRCm39)	missense	probably damaging	1.00
R9664:Yeats2	UTSW	16	20,047,491 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTCTCAGCACTTAGGAGAG -3'
(R):5'- AGAATTCCAGAACCTTCCTCCTACTG -3'

Sequencing Primer
(F):5'- TCTCAGCACTTAGGAGAGCAGATG -3'
(R):5'- CTGTACTACCACTGTGAATATGCAG -3'

Posted On

2021-01-18