Mutagenetix > Incidental Mutation

Incidental Mutation 'R6618:Kat2a'

524222

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 #

R6618 (G1)

Quality Score

128.008

Status

Validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 100712370 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

unknown
Transcript: ENSMUST00000006973
AA Change: P12Q

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: P12Q

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

unknown
Transcript: ENSMUST00000103118
AA Change: P12Q

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: P12Q

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

0.0779

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,603,463	D68G	probably damaging	Het
Barx2	G	A	9: 31,846,872	L257F	probably benign	Het
Bbx	C	G	16: 50,266,263	W90S	probably damaging	Het
Bmp1	T	A	14: 70,491,368	D588V	probably damaging	Het
Caskin2	C	T	11: 115,800,029	M1188I	possibly damaging	Het
Ccdc180	T	A	4: 45,950,708	I1651N	probably damaging	Het
Cr2	T	C	1: 195,157,379	D580G	probably damaging	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Fam166a	C	A	2: 25,220,623	L148M	probably benign	Het
Fam204a	T	C	19: 60,220,637		probably null	Het
Fam71b	A	G	11: 46,407,299	T477A	probably damaging	Het
Fam83h	T	C	15: 76,003,511	D659G	probably damaging	Het
Hells	G	T	19: 38,957,084	R589L	probably benign	Het
Helz	A	G	11: 107,599,150	T144A	probably benign	Het
Il1r1	T	A	1: 40,300,811	V258D	probably damaging	Het
Isoc2a	A	T	7: 4,895,326	I183F	probably benign	Het
Klf9	A	G	19: 23,164,871	M232V	probably benign	Het
Lars	G	T	18: 42,244,908	S147R	possibly damaging	Het
Mfsd7a	G	T	5: 108,443,098	T400K	probably benign	Het
Mkrn3	A	G	7: 62,419,033	F337L	probably benign	Het
Mrc2	A	T	11: 105,349,882	N1466I	probably damaging	Het
Myo5c	G	A	9: 75,275,637		probably null	Het
Pigs	T	C	11: 78,341,230	L396P	probably damaging	Het
Prkcb	G	A	7: 122,627,663	R624Q	probably benign	Het
R3hdm1	T	C	1: 128,193,565	S269P	probably benign	Het
Racgap1	A	T	15: 99,623,994	I505K	probably damaging	Het
Ralgds	T	A	2: 28,550,511	D777E	probably benign	Het
Rdh14	A	G	12: 10,395,123	I325V	probably benign	Het
Rpn2	T	A	2: 157,321,861	H624Q	probably benign	Het
Scarb1	C	T	5: 125,304,330	S50N	probably damaging	Het
Shmt1	T	C	11: 60,792,946		probably null	Het
Smim24	A	G	10: 81,394,132	N27S	possibly damaging	Het
Snx13	A	G	12: 35,112,445	D550G	probably damaging	Het
Tnfsf18	T	A	1: 161,494,780	L23*	probably null	Het
Trpc3	T	A	3: 36,640,695	K703N	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Zfy2	A	G	Y: 2,121,477	S139P	probably benign	Homo

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
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'- TTCTCAAGCTTCTTGGCACG -3'
(R):5'- CAAGCGACATTTGGTTGTCTGG -3'

Sequencing Primer
(F):5'- TTCCTCTGGCTAGCGCG -3'
(R):5'- AAGGAAGACTACGACTCCC -3'

Posted On

2018-06-22