Mutagenetix > Incidental Mutation

Incidental Mutation 'P0045:Yeats2'

7665

Institutional Source

Beutler Lab

Gene Symbol

Yeats2

Ensembl Gene

ENSMUSG00000041215

Gene Name

YEATS domain containing 2

Synonyms

MMRRC Submission

038292-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

P0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

19959813-20051323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19975695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 117 (E117G)

Ref Sequence

ENSEMBL: ENSMUSP00000156060 (fasta)

Gene Model

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

AlphaFold

Q3TUF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090052
AA Change: E64G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: E64G

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

possibly damaging
Transcript: ENSMUST00000115560
AA Change: E117G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: E117G

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

possibly damaging
Transcript: ENSMUST00000231705
AA Change: E117G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000232019
AA Change: E83G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232172

Predicted Effect

probably benign
Transcript: ENSMUST00000232338
AA Change: E64G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.1030

Coding Region Coverage

1x: 79.8%
3x: 69.7%
10x: 39.8%
20x: 17.7%

Validation Efficiency

80% (82/102)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	A	11: 83,258,852 (GRCm39)	N736K	probably damaging	Het
Chsy3	C	A	18: 59,542,078 (GRCm39)	Y405*	probably null	Het
Col12a1	A	G	9: 79,554,893 (GRCm39)	S2062P	probably damaging	Het
Ddx42	T	A	11: 106,122,098 (GRCm39)	D204E	probably damaging	Het
Dnah11	A	G	12: 117,994,062 (GRCm39)	V2328A	probably benign	Het
Efcab6	T	C	15: 83,802,400 (GRCm39)	K876E	probably damaging	Het
Immt	T	G	6: 71,845,601 (GRCm39)	I404M	possibly damaging	Het
Kcp	A	G	6: 29,498,347 (GRCm39)	V403A	probably damaging	Het
Litaf	C	T	16: 10,781,229 (GRCm39)	R90H	probably benign	Het
Med12l	T	A	3: 58,998,956 (GRCm39)	S639T	probably damaging	Het
Pcm1	T	A	8: 41,741,134 (GRCm39)	M1091K	probably damaging	Het
Pramel1	C	T	4: 143,125,092 (GRCm39)	R339*	probably null	Het
Prss32	A	G	17: 24,078,294 (GRCm39)	S327G	probably benign	Het
Tnfsf8	A	G	4: 63,769,404 (GRCm39)		probably benign	Het
Tpm3	T	C	3: 89,998,400 (GRCm39)		probably null	Het
Ubac2	T	C	14: 122,211,008 (GRCm39)		probably benign	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
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
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

Protein Function and Prediction

YEATS2 is a scaffolding subunit of the ADA2A-containing (ATAC) histone acetyltransferase complex (1). The ATAC complex has been shown to function in mammalian development, histone acetylation, cell cycle progression, and prevention of apoptosis during embryogenesis (2). YEATS2 contains a YNK7-ENL-AF9-TFIIF Small subunit domain near its N-terminus; the function of this domain is unknown. At the C-terminus, YEATS2 has a histone fold domain that is 41% similar to to that of the NC2α/DRAP1 subunit of NC2 (1).

Expression/Localization

RT-PCR ELISA detected highest YEATS2 expression in ovary and adult brain, with lower expression in fetal brain (3). Highest expression of YEATS2 in the brain was in the corpus callosum, caudate nucleus, and thalamus (3). Little to no expression was detected in other tissues examined (3).

References

1. Wang, Y. L., Faiola, F., Xu, M., Pan, S., and Martinez, E. (2008) Human ATAC is a GCN5/PCAF-Containing Acetylase Complex with a Novel NC2-Like Histone Fold Module that Interacts with the TATA-Binding Protein. J Biol Chem. 283, 33808-33815.

2. Guelman, S., Kozuka, K., Mao, Y., Pham, V., Solloway, M. J., Wang, J., Wu, J., Lill, J. R., and Zha, J. (2009) The Double-Histone-Acetyltransferase Complex ATAC is Essential for Mammalian Development. Mol Cell Biol. 29, 1176-1188.

3. Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., and Ohara, O. (1999) Prediction of the Coding Sequences of Unidentified Human Genes. XIII. the Complete Sequences of 100 New cDNA Clones from Brain which Code for Large Proteins in Vitro. DNA Res. 6, 63-70.

Posted On

2012-10-29

Science Writer

Anne Murray