Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Kat2a'

252396

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

040428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100710822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 256 (F256I)

Ref Sequence

ENSEMBL: ENSMUSP00000099407 (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: F256I

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

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: F256I

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

probably damaging
Transcript: ENSMUST00000103118
AA Change: F256I

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

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: F256I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,630,204	N763I	probably damaging	Het
Actr8	T	C	14: 29,987,282	V281A	probably damaging	Het
Adam1b	A	T	5: 121,501,748	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,579,208	Q77L	probably damaging	Het
Adgre4	T	A	17: 55,778,878	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,142,164	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,699,956	T434S	probably benign	Het
B020004J07Rik	T	C	4: 101,837,246	T147A	probably benign	Het
BC067074	C	T	13: 113,318,587	T389I	probably benign	Het
Bcl10	T	A	3: 145,933,030	N142K	probably benign	Het
C1qc	T	C	4: 136,890,091	I231M	probably benign	Het
Cacna1b	A	T	2: 24,606,637	L2307*	probably null	Het
Cadm2	G	A	16: 66,815,383	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 180,150,177	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,203,792	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2c50	C	G	19: 40,090,320	H90D	probably benign	Het
Dach1	A	G	14: 97,901,411	M480T	probably benign	Het
Dennd1a	A	T	2: 37,844,783	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,585,832	F355L	probably benign	Het
Drc1	A	G	5: 30,355,265	R339G	probably damaging	Het
Efna5	A	T	17: 62,881,028	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,815,741	V811A	probably damaging	Het
Fam135a	A	T	1: 24,021,964	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,874,712	R28L	probably damaging	Het
Gm11639	T	A	11: 104,733,664	S840R	probably damaging	Het
Gm9936	A	G	5: 114,857,544		probably benign	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Itgal	T	C	7: 127,314,096	F622L	probably damaging	Het
Kalrn	C	T	16: 34,310,495	E451K	probably damaging	Het
Lama4	A	T	10: 39,075,358	D1033V	possibly damaging	Het
Lama4	T	A	10: 39,106,047	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,932,047	Y212H	probably damaging	Het
Lsm10	T	C	4: 126,097,923	L24P	probably damaging	Het
Mtfp1	T	C	11: 4,094,504	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,370,475	D399E	probably benign	Het
Ncor2	T	C	5: 125,028,800		probably null	Het
Nek9	A	C	12: 85,332,546	Y195*	probably null	Het
Npas1	T	C	7: 16,474,703	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,369,821	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,805,438	N10S	probably benign	Het
Olfr545	T	C	7: 102,493,899	N292S	probably damaging	Het
Olfr58	T	A	9: 19,784,009	L292Q	probably damaging	Het
Olfr693	A	G	7: 106,677,667	I273T	probably benign	Het
Pcdha4	A	T	18: 36,953,612	T283S	probably benign	Het
Pdk1	A	C	2: 71,873,560	D64A	possibly damaging	Het
Ptpdc1	C	T	13: 48,586,063	A631T	probably benign	Het
Rasal2	G	T	1: 157,161,300	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,360,150	V55E	possibly damaging	Het
Shank2	A	T	7: 144,068,770	I214F	probably damaging	Het
Slfn14	T	C	11: 83,283,607	N186S	probably benign	Het
Soga3	A	T	10: 29,146,765	Q36L	possibly damaging	Het
Sptbn5	A	T	2: 120,048,640		noncoding transcript	Het
Stradb	C	T	1: 58,988,584	T91I	probably damaging	Het
Sulf2	T	C	2: 166,085,801	I359V	probably benign	Het
Tbl3	A	T	17: 24,703,316	M405K	possibly damaging	Het
Tecta	G	T	9: 42,332,552	D2001E	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tgfbi	T	A	13: 56,638,708		probably null	Het
Tmem132a	A	T	19: 10,859,742	L612Q	probably null	Het
Tnf	T	C	17: 35,200,500	N102S	probably damaging	Het
Trib3	A	T	2: 152,343,236	V31D	probably benign	Het
Ube2q2	T	A	9: 55,191,856	F248L	probably benign	Het
Usf3	T	C	16: 44,216,381	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,842,882	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,227,323	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,368,673	N451T	probably damaging	Het
Zfp593	C	A	4: 134,245,558		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
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
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'- GTGGCAGTAACAGAGCCATC -3'
(R):5'- GTTTGCTGACCTCAGAGTGG -3'

Sequencing Primer
(F):5'- AGCCATCTGGGGGAGGTG -3'
(R):5'- GGAAGGGTCAGAGGTTCTCTTCAC -3'

Posted On

2014-12-04