Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Kat2a'

572233

Institutional Source

Beutler Lab

Gene Symbol

Kat2a

Ensembl Gene

ENSMUSG00000020918

Gene Name

K(lysine) acetyltransferase 2A

Synonyms

Gcn5, PCAF-B/GCN5, 1110051E14Rik, Gcn5l2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100708566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 533 (A533T)

Ref Sequence

ENSEMBL: ENSMUSP00000099407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]

AlphaFold

Q9JHD2

Predicted Effect

probably benign
Transcript: ENSMUST00000006973
AA Change: A532T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: A532T

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	332	1.2e-155	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	538	621	5e-13	PFAM
Pfam:Acetyltransf_1	545	620	3.2e-11	PFAM
low complexity region	659	675	N/A	INTRINSIC
BROMO	718	826	6.87e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017974

SMART Domains

Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830

Domain	Start	End	E-Value	Type
DEXDc	2	207	2.86e-22	SMART
HELICc	387	475	3.85e-14	SMART
Blast:HELICc	497	543	4e-12	BLAST
Pfam:RIG-I_C-RD	552	667	1.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103118
AA Change: A533T

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

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: A533T

Domain	Start	End	E-Value	Type
low complexity region	21	72	N/A	INTRINSIC
Pfam:PCAF_N	81	331	4.4e-120	PFAM
low complexity region	398	417	N/A	INTRINSIC
Pfam:Acetyltransf_7	539	622	1.2e-11	PFAM
Pfam:Acetyltransf_1	547	621	3.1e-11	PFAM
low complexity region	660	676	N/A	INTRINSIC
BROMO	719	827	6.87e-38	SMART

Meta Mutation Damage Score

0.0572

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit poorly developed yolk sac blood vessels, retarded growth, absence of dorsal mesoderm lineages, failure to form somites, and lethality between embryonic days 9.5-11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,795,435	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,542,317	T260M	possibly damaging	Het
Anks3	T	C	16: 4,955,871	Y187C	probably benign	Het
Atp2c2	A	T	8: 119,730,252	I198F	probably benign	Het
Bsn	T	C	9: 108,113,484	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,808,132	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,177,900	R594H	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cldn1	G	T	16: 26,360,856	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,580,637	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,699,831		probably null	Het
Crybg1	T	C	10: 44,004,140	T351A	probably benign	Het
Csmd1	T	C	8: 15,992,713	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,897,269	Q1297K	probably benign	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnah8	T	C	17: 30,767,965		probably null	Het
Dst	G	T	1: 34,188,391	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,919,573	M1T	probably null	Het
Fasn	A	T	11: 120,813,976	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,026,665	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,727,690	F49L	probably benign	Het
Hlx	T	C	1: 184,730,865	T197A	probably benign	Het
Hormad1	A	T	3: 95,576,317	T147S	probably damaging	Het
Igf1r	T	A	7: 68,195,078	Y866*	probably null	Het
Itgb8	A	G	12: 119,202,475	V107A	probably benign	Het
Kif20b	T	C	19: 34,935,671	L328P	probably damaging	Het
Lims1	T	C	10: 58,409,620	F157S	probably damaging	Het
Lrp2	G	T	2: 69,500,692	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 97,038,880	M43I	probably benign	Het
Lrrk2	T	C	15: 91,700,004		probably null	Het
Meox2	A	T	12: 37,108,798		probably benign	Het
Mff	A	G	1: 82,737,117		probably null	Het
Mfsd5	T	A	15: 102,280,992	F266L	probably damaging	Het
Miga2	A	G	2: 30,382,071	T468A	probably damaging	Het
Mmel1	T	A	4: 154,889,208	L316Q	not run	Het
Ndufa9	C	A	6: 126,834,458	G232C	probably damaging	Het
Obox2	A	T	7: 15,397,220	K84*	probably null	Het
Olfr1311	T	A	2: 112,021,442	R137S	probably benign	Het
Olfr33	T	A	7: 102,714,099	I105F	possibly damaging	Het
Otogl	G	T	10: 107,901,251	Q101K	probably damaging	Het
Pcnx2	C	T	8: 125,808,027	V1288M	probably damaging	Het
Pde10a	T	A	17: 8,942,992	W220R	probably benign	Het
Recql5	T	C	11: 115,928,372	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,793,603	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,757,271	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,205,835	E2K	unknown	Het
Shcbp1l	C	A	1: 153,425,240	T6K	probably benign	Het
Slc22a15	A	C	3: 101,877,897	L353R	possibly damaging	Het
Sqle	T	C	15: 59,317,809	I100T	probably benign	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tll1	A	T	8: 64,051,357	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,066,646	S118P	probably benign	Het
Tmco5	G	T	2: 116,886,745	V169L	probably benign	Het
Trpv1	A	G	11: 73,240,673	K346E	probably damaging	Het
Ttk	G	A	9: 83,854,877	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,509,406	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,837,788	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 18,824,686	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,559	S231T	unknown	Het

Other mutations in Kat2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kat2a	APN	11	100705384	missense	probably damaging	1.00
IGL00476:Kat2a	APN	11	100705384	missense	probably damaging	1.00
IGL00952:Kat2a	APN	11	100706151	missense	probably damaging	0.98
IGL01529:Kat2a	APN	11	100711909	missense	probably damaging	1.00
IGL02424:Kat2a	APN	11	100711147	splice site	probably null
IGL03338:Kat2a	APN	11	100711475	missense	probably benign	0.30
R0096:Kat2a	UTSW	11	100706471	missense	probably damaging	1.00
R0711:Kat2a	UTSW	11	100706471	missense	probably damaging	1.00
R0714:Kat2a	UTSW	11	100711352	missense	probably damaging	0.99
R0784:Kat2a	UTSW	11	100710841	missense	probably benign	0.05
R1652:Kat2a	UTSW	11	100708611	missense	probably damaging	0.98
R2152:Kat2a	UTSW	11	100712346	unclassified	probably benign
R2177:Kat2a	UTSW	11	100710822	missense	probably damaging	1.00
R2510:Kat2a	UTSW	11	100712142	missense	probably benign	0.32
R2570:Kat2a	UTSW	11	100710822	missense	probably damaging	1.00
R4175:Kat2a	UTSW	11	100705266	missense	probably damaging	1.00
R4965:Kat2a	UTSW	11	100712203	unclassified	probably benign
R4965:Kat2a	UTSW	11	100712204	unclassified	probably benign
R5316:Kat2a	UTSW	11	100712170	missense	possibly damaging	0.77
R5732:Kat2a	UTSW	11	100708240	missense	probably damaging	1.00
R5954:Kat2a	UTSW	11	100708898	missense	possibly damaging	0.89
R6618:Kat2a	UTSW	11	100712370	unclassified	probably benign
R6719:Kat2a	UTSW	11	100712141	missense	probably benign	0.00
R6731:Kat2a	UTSW	11	100708273	missense	probably damaging	0.98
R7291:Kat2a	UTSW	11	100710900	missense	possibly damaging	0.55
R7632:Kat2a	UTSW	11	100708596	nonsense	probably null
R8305:Kat2a	UTSW	11	100709478	missense	possibly damaging	0.77
R8322:Kat2a	UTSW	11	100712290	missense	unknown
R8729:Kat2a	UTSW	11	100710511	missense	probably benign	0.10
R9381:Kat2a	UTSW	11	100711866	missense	possibly damaging	0.50
R9432:Kat2a	UTSW	11	100711352	missense	probably damaging	0.99
R9472:Kat2a	UTSW	11	100705371	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGTCATGGAACTCACCTGTC -3'
(R):5'- TAGACAAGCCTGCTTTCGGC -3'

Sequencing Primer
(F):5'- ATGGAACTCACCTGTCCTCTC -3'
(R):5'- TTTCGGCCAACGCAGCTC -3'

Posted On

2019-09-13