Mutagenetix > Incidental Mutation

Incidental Mutation 'R5047:Yeats2'

394429

Institutional Source

Beutler Lab

Gene Symbol

Yeats2

Ensembl Gene

ENSMUSG00000041215

Gene Name

YEATS domain containing 2

Synonyms

MMRRC Submission

042637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19959813-20051323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20027215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 822 (Q822L)

Ref Sequence

ENSEMBL: ENSMUSP00000155892 (fasta)

Gene Model

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

AlphaFold

Q3TUF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000090052
AA Change: Q807L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: Q807L

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: Q860L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: Q860L

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: ENSMUST00000231671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231795

Predicted Effect

probably damaging
Transcript: ENSMUST00000232019
AA Change: Q822L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232094

Predicted Effect

silent
Transcript: ENSMUST00000232338

Predicted Effect

probably benign
Transcript: ENSMUST00000232613

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

96% (49/51)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	T	14: 44,406,698 (GRCm39)	M117K	possibly damaging	Het
Adamts13	G	A	2: 26,886,922 (GRCm39)	A1020T	probably damaging	Het
Armh4	G	T	14: 50,007,895 (GRCm39)	A526D	probably damaging	Het
Atg3	C	A	16: 44,998,595 (GRCm39)	D132E	probably benign	Het
Blzf1	A	G	1: 164,134,037 (GRCm39)	M4T	possibly damaging	Het
Cdon	G	A	9: 35,389,935 (GRCm39)	R863Q	probably damaging	Het
Cyp2d40	C	T	15: 82,644,460 (GRCm39)	R255H	unknown	Het
Evi5	T	C	5: 107,969,740 (GRCm39)	K57R	probably damaging	Het
Fam186b	T	C	15: 99,178,567 (GRCm39)	E253G	probably damaging	Het
Fcgr1	A	T	3: 96,193,200 (GRCm39)	F266I	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gm10142	G	T	10: 77,551,996 (GRCm39)	C119F	probably damaging	Het
Gpr63	A	G	4: 25,008,202 (GRCm39)	S309G	probably benign	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Jmy	T	A	13: 93,578,080 (GRCm39)	H696L	possibly damaging	Het
Kif13a	T	C	13: 46,941,561 (GRCm39)	H972R	probably benign	Het
Lama1	C	T	17: 68,050,276 (GRCm39)	Q296*	probably null	Het
Lmf1	C	T	17: 25,850,812 (GRCm39)		probably benign	Het
Lpp	T	C	16: 24,790,596 (GRCm39)	C352R	probably damaging	Het
Ltbp1	T	C	17: 75,599,881 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,598,262 (GRCm39)	D807E	possibly damaging	Het
Mdc1	T	A	17: 36,158,736 (GRCm39)	V372D	probably benign	Het
Mst1	C	A	9: 107,961,508 (GRCm39)	H579Q	probably benign	Het
Or11g24	T	C	14: 50,662,696 (GRCm39)	F240S	probably damaging	Het
Or1r1	T	C	11: 73,875,204 (GRCm39)	T77A	probably damaging	Het
Or4a39	A	G	2: 89,237,057 (GRCm39)	V122A	probably damaging	Het
Or8d1	G	A	9: 38,766,585 (GRCm39)	V76I	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Phlpp2	A	T	8: 110,640,251 (GRCm39)	H472L	probably benign	Het
Plscr3	A	G	11: 69,740,917 (GRCm39)		probably null	Het
Rab7	A	T	6: 87,982,205 (GRCm39)		probably null	Het
Rad50	A	G	11: 53,565,523 (GRCm39)		probably null	Het
Scgb1b20	A	G	7: 33,072,737 (GRCm39)		probably null	Het
Scn9a	A	C	2: 66,392,824 (GRCm39)	L256R	probably damaging	Het
Spag1	G	T	15: 36,195,588 (GRCm39)	Q260H	probably damaging	Het
Tatdn3	T	A	1: 190,778,475 (GRCm39)	I239F	probably damaging	Het
Tcof1	A	G	18: 60,964,986 (GRCm39)	S578P	possibly damaging	Het
Top3b	A	G	16: 16,709,282 (GRCm39)	T657A	probably benign	Het
Tstd3	A	G	4: 21,759,621 (GRCm39)		probably null	Het
Ttc4	A	T	4: 106,525,435 (GRCm39)	L233H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,794 (GRCm39)	M158K	probably benign	Het
Zfp976	A	T	7: 42,262,843 (GRCm39)	C331*	probably null	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
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
R8535:Yeats2	UTSW	16	19,977,926 (GRCm39)	missense	probably damaging	1.00
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'- CATGGTCCAGTCGTTCCAATTG -3'
(R):5'- TTTGACAGAAAATACAGCACGC -3'

Sequencing Primer
(F):5'- GTCCAGTCGTTCCAATTGAAGAAAG -3'
(R):5'- ACCTAGTCCTGCGGTGACTTAAG -3'

Posted On

2016-06-15