Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Kat2a'

277540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat2a

Ensembl Gene

ENSMUSG00000020918

Gene Name

K(lysine) acetyltransferase 2A

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100705384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 782 (R782W)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (fasta)

Gene Model

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

AlphaFold

Q9JHD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006973
AA Change: R782W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: R782W

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 damaging
Transcript: ENSMUST00000103118
AA Change: R783W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: R783W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153526

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,773,003	S416T	probably damaging	Het
4732463B04Rik	G	T	12: 84,043,804		probably benign	Het
4921501E09Rik	T	A	17: 33,065,863	H655L	probably benign	Het
Abcd1	T	C	X: 73,717,548	L173P	probably damaging	Het
Adam18	T	A	8: 24,628,133	D41V	probably damaging	Het
Aspa	T	G	11: 73,313,621		probably benign	Het
C530008M17Rik	G	A	5: 76,866,056		probably benign	Het
Cacna2d1	T	A	5: 16,246,656		probably benign	Het
Cubn	T	A	2: 13,278,418	I3570L	probably benign	Het
Cyp2j13	G	A	4: 96,062,038	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,239,501		probably benign	Het
Dchs1	A	T	7: 105,758,207	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,611,664	A229T	possibly damaging	Het
Dst	A	T	1: 34,188,962	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,530,939	P554L	probably damaging	Het
Fcgbp	C	A	7: 28,075,086	C28*	probably null	Het
Gm773	T	C	X: 56,202,013	D53G	probably benign	Het
Hhat	A	G	1: 192,717,017	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,645,525	S310P	probably benign	Het
Kcnh5	T	C	12: 74,897,796	D893G	probably benign	Het
Lama2	T	C	10: 27,243,742	T709A	probably benign	Het
Mcm8	G	A	2: 132,827,537	V281I	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Nup133	T	G	8: 123,939,083	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,323,390	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,490,713	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,185,238	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754	F118L	probably damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Sphkap	A	G	1: 83,277,910	M706T	possibly damaging	Het
Tarsl2	T	C	7: 65,688,908	M689T	probably benign	Het
Trrap	T	C	5: 144,818,038	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,638,574	S203T	probably benign	Het
Txnrd1	T	G	10: 82,875,662	D42E	probably damaging	Het
Zswim8	G	A	14: 20,723,181	D1746N	probably damaging	Het

Other mutations in Kat2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7373:Kat2a	UTSW	11	100708566	missense	probably benign	0.00
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

Posted On

2015-04-16