Mutagenetix > Incidental Mutations

Incidental Mutation 'R5360:Yeats2'

424315

Institutional Source

Beutler Lab

Gene Symbol

Yeats2

Ensembl Gene

ENSMUSG00000041215

Gene Name

YEATS domain containing 2

Synonyms

MMRRC Submission

042939-MU

Accession Numbers

Ncbi RefSeq: NM_001145930.1, NM_001033237.2, NM_001145931.1; MGI:2447762

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20141063-20232573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20154162 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 22 (M22K)

Ref Sequence

ENSEMBL: ENSMUSP00000155891 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090052
AA Change: M22K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: M22K

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: M75K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: M75K

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: M75K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232019
AA Change: M41K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232172

Predicted Effect

probably damaging
Transcript: ENSMUST00000232338
AA Change: M22K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Acsl5	T	A	19: 55,291,160	Y443*	probably null	Het
Aox3	C	T	1: 58,146,508	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,259,671	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,278,869		probably null	Het
Brpf3	A	T	17: 28,810,562	M499L	probably benign	Het
Cacnb1	A	T	11: 98,018,271		probably null	Het
Cep295	A	G	9: 15,326,733	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,518,857	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,669,203	Y2532F	probably damaging	Het
D17Wsu92e	A	T	17: 27,794,046	I59N	probably damaging	Het
Dsg1a	A	G	18: 20,340,954	D1028G	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gabra5	C	T	7: 57,490,785	G55R	probably damaging	Het
Gdf9	T	A	11: 53,437,207	F330Y	probably benign	Het
Gimap8	T	C	6: 48,656,302	S352P	probably damaging	Het
Gm4952	A	T	19: 12,623,629	H71L	probably benign	Het
Gm6803	A	C	12: 88,018,495	L93V	probably benign	Het
Gnaq	G	A	19: 16,133,426	R34H	probably benign	Het
Hebp2	T	C	10: 18,544,307	D126G	probably benign	Het
Hectd4	A	G	5: 121,315,401	D601G	possibly damaging	Het
Hook2	T	C	8: 85,001,404	Y577H	probably damaging	Het
Igfals	A	G	17: 24,880,093	T53A	probably benign	Het
Igsf9b	A	G	9: 27,311,672	D123G	probably damaging	Het
Ikbkap	A	T	4: 56,800,104	H7Q	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mdm4	A	T	1: 132,991,658	*490K	probably null	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Neurl2	C	A	2: 164,833,101	A114S	probably damaging	Het
Nuggc	A	G	14: 65,638,626	T563A	probably damaging	Het
Olfr951	T	G	9: 39,394,402	F204V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,230,549	S213T	probably damaging	Het
Pitx1	T	C	13: 55,828,478	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,879,204	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,734,345	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,349,146	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,016,571	R383*	probably null	Het
Prl7a2	C	T	13: 27,659,160	R220H	probably benign	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,389,855	V454A	possibly damaging	Het
Robo1	A	G	16: 72,935,777	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,619,422	L188P	probably damaging	Het
Spag17	A	G	3: 100,109,410	N2167S	probably benign	Het
Spag5	G	A	11: 78,314,762	E680K	probably damaging	Het
Spata6	A	G	4: 111,822,829	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 50,984,632	D47G	probably benign	Het
Trp53	T	C	11: 69,588,740		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267		probably benign	Het
Ttc39b	T	C	4: 83,261,847	D103G	probably damaging	Het
Ttn	A	C	2: 76,919,978	W3576G	probably benign	Het

Other mutations in Yeats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Yeats2	APN	16	20186304	missense	probably damaging	0.99
IGL01128:Yeats2	APN	16	20161968	splice site	probably benign
IGL01139:Yeats2	APN	16	20214393	missense	probably damaging	1.00
IGL01394:Yeats2	APN	16	20162032	missense	probably damaging	0.99
IGL01482:Yeats2	APN	16	20222921	missense	probably damaging	1.00
IGL01924:Yeats2	APN	16	20206167	missense	probably damaging	1.00
IGL01925:Yeats2	APN	16	20179680	splice site	probably benign
IGL02106:Yeats2	APN	16	20193220	missense	possibly damaging	0.79
IGL02370:Yeats2	APN	16	20150471	missense	probably damaging	0.99
IGL02447:Yeats2	APN	16	20193679	missense	probably benign	0.00
IGL02669:Yeats2	APN	16	20186283	missense	probably benign	0.13
IGL03155:Yeats2	APN	16	20229573	critical splice donor site	probably null
tyrion	UTSW	16	20213401	splice site	probably benign
P0045:Yeats2	UTSW	16	20156945	missense	possibly damaging	0.47
R0051:Yeats2	UTSW	16	20193724	nonsense	probably null
R0051:Yeats2	UTSW	16	20193724	nonsense	probably null
R0118:Yeats2	UTSW	16	20156942	nonsense	probably null
R0157:Yeats2	UTSW	16	20221677	makesense	probably null
R0184:Yeats2	UTSW	16	20203685	missense	possibly damaging	0.79
R0194:Yeats2	UTSW	16	20152969	start codon destroyed	probably null	1.00
R0612:Yeats2	UTSW	16	20186425	missense	probably benign	0.00
R0655:Yeats2	UTSW	16	20193824	nonsense	probably null
R0826:Yeats2	UTSW	16	20193216	nonsense	probably null
R1526:Yeats2	UTSW	16	20206086	missense	probably damaging	1.00
R1535:Yeats2	UTSW	16	20189365	missense	probably damaging	0.99
R1749:Yeats2	UTSW	16	20186268	nonsense	probably null
R1842:Yeats2	UTSW	16	20171238	missense	probably damaging	1.00
R1843:Yeats2	UTSW	16	20229564	missense	probably benign	0.01
R1926:Yeats2	UTSW	16	20214426	missense	probably benign
R2000:Yeats2	UTSW	16	20186391	missense	probably benign	0.20
R2017:Yeats2	UTSW	16	20159181	missense	probably benign	0.01
R2076:Yeats2	UTSW	16	20186282	missense	possibly damaging	0.47
R2153:Yeats2	UTSW	16	20154166	missense	probably damaging	1.00
R2167:Yeats2	UTSW	16	20213401	splice site	probably benign
R2981:Yeats2	UTSW	16	20186301	missense	probably damaging	0.99
R3160:Yeats2	UTSW	16	20193645	missense	probably damaging	1.00
R3161:Yeats2	UTSW	16	20193645	missense	probably damaging	1.00
R3162:Yeats2	UTSW	16	20193645	missense	probably damaging	1.00
R3774:Yeats2	UTSW	16	20150495	missense	probably damaging	1.00
R4250:Yeats2	UTSW	16	20156935	missense	possibly damaging	0.90
R4305:Yeats2	UTSW	16	20208422	missense	probably damaging	1.00
R4455:Yeats2	UTSW	16	20161993	missense	possibly damaging	0.88
R4458:Yeats2	UTSW	16	20213321	missense	probably damaging	0.99
R4811:Yeats2	UTSW	16	20152895	unclassified	probably null
R4902:Yeats2	UTSW	16	20207668	missense	probably benign	0.00
R5043:Yeats2	UTSW	16	20208465	missense	probably damaging	1.00
R5047:Yeats2	UTSW	16	20208465	missense	probably damaging	1.00
R5319:Yeats2	UTSW	16	20186425	missense	probably benign	0.01
R5328:Yeats2	UTSW	16	20171205	missense	probably damaging	1.00
R5416:Yeats2	UTSW	16	20211569	missense	probably benign	0.01
R5672:Yeats2	UTSW	16	20162029	missense	probably damaging	1.00
R5684:Yeats2	UTSW	16	20193803	missense	possibly damaging	0.94
R5932:Yeats2	UTSW	16	20193163	missense	probably benign	0.06
R5946:Yeats2	UTSW	16	20207763	nonsense	probably null
R6168:Yeats2	UTSW	16	20179558	missense	probably benign	0.01
R6169:Yeats2	UTSW	16	20219667	missense	probably damaging	1.00
R6179:Yeats2	UTSW	16	20214475	missense	probably benign	0.16
R6371:Yeats2	UTSW	16	20221710	missense	possibly damaging	0.54
R6877:Yeats2	UTSW	16	20179594	missense	probably benign	0.00
R7149:Yeats2	UTSW	16	20154189	missense	probably damaging	1.00
R7405:Yeats2	UTSW	16	20222913	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGTACATCTCCAGCTTGTATC -3'
(R):5'- TCTTCAGAAAGGTGGCCAGG -3'

Sequencing Primer
(F):5'- CTTTGCCAGTTTAATTAGGTGAGAAG -3'
(R):5'- TGGCCAGGCTTATCAAATGC -3'

Posted On

2016-08-04