Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Kat2a'

715536

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 #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100705371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 787 (V787A)

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: V786A

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V786A

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: V787A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V787A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 24,637,232	K449N	probably benign	Het
Adam39	G	A	8: 40,826,314	V581I	possibly damaging	Het
Agrn	A	G	4: 156,170,384	F1625S		Het
Aox3	G	T	1: 58,176,510	V1034L	possibly damaging	Het
Baz2a	T	G	10: 128,112,755	S302A	probably benign	Het
Capn9	T	C	8: 124,598,795		probably null	Het
Ccdc153	A	T	9: 44,243,626	Q104L	possibly damaging	Het
Cdh1	A	T	8: 106,653,616	N168I	probably damaging	Het
Crisp3	A	T	17: 40,228,785		probably null	Het
Ctsb	T	C	14: 63,141,737	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,513,599	R144L	probably damaging	Het
Elmo1	C	T	13: 20,286,727	A263V	probably benign	Het
Enkur	T	C	2: 21,196,779	R32G	possibly damaging	Het
Fam126b	A	G	1: 58,535,482	V300A	possibly damaging	Het
Fsip2	T	A	2: 82,986,941	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,292,729	M268R	probably damaging	Het
Herc2	T	A	7: 56,164,095	W2659R	probably damaging	Het
Ino80e	A	G	7: 126,861,955	V40A	unknown	Het
Ints2	T	C	11: 86,242,998	T409A		Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl32	A	G	4: 24,629,273	V465A	probably benign	Het
Kmt2a	C	A	9: 44,822,156	R2288L	unknown	Het
Megf6	G	A	4: 154,249,453	G213S	probably damaging	Het
Mt2	T	A	8: 94,173,371	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,819,333	V690A	probably damaging	Het
Obscn	T	C	11: 59,003,669	H6670R		Het
Olfr1216	A	C	2: 89,013,173	I297S	possibly damaging	Het
Orc4	T	C	2: 48,905,551	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,485,866	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,380,349	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,866,877	D184G	probably damaging	Het
Rassf6	A	T	5: 90,617,713	Y46*	probably null	Het
Rmdn2	T	A	17: 79,681,667	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 20,908,121	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,112,232	K34E	probably benign	Het
Runx3	A	G	4: 135,171,130	D204G	probably damaging	Het
Sbf2	A	G	7: 110,371,591	I866T	possibly damaging	Het
Sgtb	A	C	13: 104,111,173	E28D	probably benign	Het
Slc38a8	T	A	8: 119,501,149	K14M	probably damaging	Het
Spast	T	C	17: 74,374,148	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,843,357	T147A	probably damaging	Het
Tmem208	T	C	8: 105,328,395	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,680,689	I250V	probably benign	Het
Usp24	A	G	4: 106,403,931	T1628A	probably benign	Het
Vmn2r14	G	T	5: 109,220,096	N343K	probably benign	Het
Xrcc6	T	A	15: 82,029,127	Y320*	probably null	Het
Zbtb10	A	C	3: 9,278,295	T627P	probably benign	Het
Zfp532	A	T	18: 65,623,553	K186*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCCAAACGGATCTGAGGAGATG -3'
(R):5'- ATCCGTTTCCCCATTGGTGAG -3'

Sequencing Primer
(F):5'- TCTGAGGAGATGGAGGTGGATG -3'
(R):5'- CCATTGGTGAGGACCCTTGTAC -3'

Posted On

2022-06-15