Mutagenetix > Incidental Mutation

Incidental Mutation 'R0714:Kat2a'

85921

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

038897-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0714 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100711352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 192 (V192A)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (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: V192A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V192A

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: 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

possibly damaging
Transcript: ENSMUST00000103118
AA Change: V192A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V192A

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 benign
Transcript: ENSMUST00000169833

SMART Domains

Protein: ENSMUSP00000130551
Gene: ENSMUSG00000017832

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

Meta Mutation Damage Score

0.5140

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	G	A	19: 21,678,609	R85H	probably damaging	Het
Adamts13	A	G	2: 26,986,985		probably benign	Het
Alb	T	C	5: 90,462,806	S82P	possibly damaging	Het
Arhgap10	G	A	8: 77,351,687		probably benign	Het
Aspscr1	T	A	11: 120,703,667		probably null	Het
Capn3	A	T	2: 120,491,880	Q359L	probably benign	Het
Ccdc110	A	T	8: 45,943,010	D646V	possibly damaging	Het
Ccr2	G	A	9: 124,105,929	G82D	probably benign	Het
Col6a4	A	G	9: 106,017,903		probably benign	Het
Dhx29	T	C	13: 112,927,965	V58A	possibly damaging	Het
Dhx35	C	A	2: 158,844,183	Q593K	probably benign	Het
Dmd	T	C	X: 84,309,897	L2240P	probably benign	Het
Emc7	A	G	2: 112,462,932	N162S	possibly damaging	Het
Exoc7	A	T	11: 116,293,294	N483K	probably benign	Het
Fbxo34	T	C	14: 47,530,029	V282A	probably damaging	Het
Fndc3c1	A	T	X: 106,425,366	Y1087*	probably null	Het
Larp7	T	C	3: 127,547,184	D64G	probably damaging	Het
Lnx1	A	G	5: 74,607,909		probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Nckipsd	C	A	9: 108,814,134		probably benign	Het
Ndufab1	A	G	7: 122,096,737		probably benign	Het
Nedd4	G	A	9: 72,731,446		probably benign	Het
Nrsn2	G	A	2: 152,374,122	R54*	probably null	Het
Nt5dc3	T	A	10: 86,812,374	V171E	probably damaging	Het
Nudt8	A	G	19: 4,002,023	*211W	probably null	Het
Nxph4	A	G	10: 127,526,939	S28P	probably damaging	Het
Olfr1015	A	G	2: 85,786,399	D296G	probably damaging	Het
Olfr1048	A	C	2: 86,236,154	L227R	probably damaging	Het
Olfr1307	A	G	2: 111,944,553	V301A	probably benign	Het
Pcdhb15	A	G	18: 37,474,621	Y302C	probably damaging	Het
Pkdrej	A	G	15: 85,815,511	S2075P	possibly damaging	Het
Sdhc	A	T	1: 171,129,919		probably benign	Het
Sidt2	A	G	9: 45,947,060		probably benign	Het
Sik2	T	C	9: 50,907,436	M413V	probably benign	Het
Slc5a4b	A	G	10: 76,081,507	F232L	probably benign	Het
Slx1b	A	T	7: 126,692,448	I148N	probably damaging	Het
Spag17	C	G	3: 100,080,156	S1587R	probably damaging	Het
St13	T	C	15: 81,383,027	D74G	probably benign	Het
St7l	G	A	3: 104,874,928	R207H	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tacc3	T	C	5: 33,671,397		probably benign	Het
Tbx22	G	A	X: 107,685,125	V421I	probably benign	Het
Tmc3	G	A	7: 83,616,761	A705T	possibly damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tonsl	T	C	15: 76,633,721		probably benign	Het
Trpm6	T	A	19: 18,838,087	I1179N	possibly damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Utp23	T	G	15: 51,882,269	V55G	possibly damaging	Het
Vps11	A	G	9: 44,359,656	V143A	possibly damaging	Het
Vps50	G	T	6: 3,571,105	V618F	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCAGCAAACACCATGTCCCTTC -3'
(R):5'- GCCCTAATGTAACCATCTTGCAGCG -3'

Sequencing Primer
(F):5'- CTGTTCTCAGCTTGAGGAAATAAACC -3'
(R):5'- TGCAGCGGACCATGTGTC -3'

Posted On

2013-11-18