Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02424:Kat2a'

292811

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02424

Quality Score

Status

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 100711147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017976] [ENSMUST00000019317] [ENSMUST00000103118] [ENSMUST00000107364] [ENSMUST00000169833]

AlphaFold

Q9JHD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006973
AA Change: I226T

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

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: I226T

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 null
Transcript: ENSMUST00000017976

SMART Domains

Protein: ENSMUSP00000017976
Gene: ENSMUSG00000017832

Domain	Start	End	E-Value	Type
Pfam:HSP20	52	149	4.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019317

SMART Domains

Protein: ENSMUSP00000019317
Gene: ENSMUSG00000019173

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	22	203	6.29e-85	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103118
AA Change: I226T

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

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: I226T

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

probably benign
Transcript: ENSMUST00000107364

SMART Domains

Protein: ENSMUSP00000102987
Gene: ENSMUSG00000019173

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RAB	22	185	3.37e-94	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153526

Predicted Effect

probably null
Transcript: ENSMUST00000169833

SMART Domains

Protein: ENSMUSP00000130551
Gene: ENSMUSG00000017832

Domain	Start	End	E-Value	Type
Pfam:HSP20	83	178	1.2e-13	PFAM

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 138,174,705		probably benign	Het
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abl1	G	A	2: 31,801,132	V888I	probably benign	Het
Adcy9	G	T	16: 4,288,597	N884K	probably damaging	Het
Alyref	T	C	11: 120,595,307	N176D	probably benign	Het
Amtn	T	C	5: 88,381,597		probably benign	Het
Baz1b	T	C	5: 135,217,979	Y761H	probably damaging	Het
Cckar	T	A	5: 53,706,428	T64S	possibly damaging	Het
Csmd1	A	G	8: 16,092,326	F1521S	probably benign	Het
Cyp11b1	T	C	15: 74,839,236	T198A	probably benign	Het
Def8	G	T	8: 123,459,648	L399F	possibly damaging	Het
Epha7	A	T	4: 28,948,790		probably benign	Het
Ets1	T	A	9: 32,754,293	Y181*	probably null	Het
Fas	A	T	19: 34,327,034	M232L	probably damaging	Het
Fkbp10	T	A	11: 100,415,956	V37E	probably damaging	Het
Galnt3	A	G	2: 66,095,788		probably null	Het
Gdap1	T	C	1: 17,161,178	V249A	probably damaging	Het
Gm5356	T	A	8: 89,186,966		noncoding transcript	Het
Gm7732	A	G	17: 21,129,447		noncoding transcript	Het
Gpr3	G	T	4: 133,211,094	A89E	probably damaging	Het
Kit	T	G	5: 75,639,106	D499E	probably benign	Het
Kmt2a	C	T	9: 44,824,635		probably benign	Het
Med12l	T	C	3: 59,092,722	L666P	probably benign	Het
Mmp2	T	G	8: 92,836,007	C291G	probably damaging	Het
Neb	A	G	2: 52,264,191	Y2303H	probably damaging	Het
Olfr305	C	A	7: 86,363,480	V286L	probably benign	Het
Olfr412	T	A	11: 74,365,473	M268K	probably benign	Het
Olfr97	T	C	17: 37,232,372		probably benign	Het
Pde1b	T	A	15: 103,528,219		probably benign	Het
Prl7a2	A	C	13: 27,667,970	C9G	probably null	Het
Rabl6	A	G	2: 25,587,457	V327A	probably benign	Het
Robo2	T	A	16: 73,973,301	I516F	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc35a3	G	A	3: 116,694,618	T140I	possibly damaging	Het
Slc38a7	A	G	8: 95,841,572	V395A	probably damaging	Het
Stag3	T	C	5: 138,291,366	L266P	probably damaging	Het
Stag3	T	A	5: 138,281,985	C37*	probably null	Het
Strn	A	G	17: 78,684,351	S180P	probably damaging	Het
Sulf1	A	G	1: 12,796,840	T83A	probably benign	Het
Vmn1r69	T	C	7: 10,580,658	I49V	probably benign	Het
Vrk2	G	A	11: 26,476,564	P387L	probably benign	Het
Xdh	A	T	17: 73,926,570	M183K	probably benign	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
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