Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Yeats2'

406012

Institutional Source

Beutler Lab

Gene Symbol

Yeats2

Ensembl Gene

ENSMUSG00000041215

Gene Name

YEATS domain containing 2

Synonyms

MMRRC Submission

042902-MU

Accession Numbers

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

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20141063-20232573 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20186425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 385 (V385A)

Ref Sequence

ENSEMBL: ENSMUSP00000155891 (fasta)

Gene Model

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

AlphaFold

Q3TUF7

Predicted Effect

probably benign
Transcript: ENSMUST00000090052
AA Change: V388A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: V388A

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 benign
Transcript: ENSMUST00000115560
AA Change: V441A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: V441A

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

noncoding transcript
Transcript: ENSMUST00000231861

Predicted Effect

probably benign
Transcript: ENSMUST00000232019
AA Change: V404A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232172

Predicted Effect

probably benign
Transcript: ENSMUST00000232338
AA Change: V385A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	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	splice site	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
R5328:Yeats2	UTSW	16	20171205	missense	probably damaging	1.00
R5360:Yeats2	UTSW	16	20154162	missense	probably damaging	0.97
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
R8353:Yeats2	UTSW	16	20222887	nonsense	probably null
R8367:Yeats2	UTSW	16	20222825	missense	probably damaging	1.00
R8453:Yeats2	UTSW	16	20222887	nonsense	probably null
R8506:Yeats2	UTSW	16	20152934	missense	probably damaging	0.98
R8535:Yeats2	UTSW	16	20159176	missense	probably damaging	1.00
R8828:Yeats2	UTSW	16	20150510	missense	probably benign	0.45
R8905:Yeats2	UTSW	16	20190394	missense	probably benign	0.02
R8924:Yeats2	UTSW	16	20150562	critical splice donor site	probably null
R9087:Yeats2	UTSW	16	20211750	critical splice donor site	probably null
R9276:Yeats2	UTSW	16	20157036	missense	probably benign	0.34
R9338:Yeats2	UTSW	16	20213328	missense	possibly damaging	0.69
R9338:Yeats2	UTSW	16	20222783	missense	probably damaging	0.99
R9378:Yeats2	UTSW	16	20214478	missense	probably benign
R9569:Yeats2	UTSW	16	20154152	missense	probably damaging	1.00
R9664:Yeats2	UTSW	16	20228741	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCCAGAGACCACTGAAGC -3'
(R):5'- TGGCAGTGTAGAAGCATCTCC -3'

Sequencing Primer
(F):5'- GCTGAGAGACACAGTACATTTTATTC -3'
(R):5'- TGTAGAAGCATCTCCGAGCTG -3'

Posted On

2016-07-22