Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Kat2a'

471062

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

044143-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5954 (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 100708898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 451 (V451A)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118] [ENSMUST00000169833]

AlphaFold

Q9JHD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006973
AA Change: V451A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V451A

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

possibly damaging
Transcript: ENSMUST00000103118
AA Change: V452A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V452A

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

noncoding transcript
Transcript: ENSMUST00000126167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132930

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

0.2236

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,397,416	I944T	probably benign	Het
Ank2	T	C	3: 126,997,861	T823A	probably benign	Het
Ankrd42	C	G	7: 92,623,967		probably null	Het
Anks4b	T	A	7: 120,182,173	N142K	possibly damaging	Het
Armc5	A	G	7: 128,242,272	E484G	probably benign	Het
B4galnt3	A	G	6: 120,225,188	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,320,002	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,383,201	F1555S	probably damaging	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Chd6	A	C	2: 160,965,827	H1822Q	probably benign	Het
Chdh	C	T	14: 30,031,181	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,604,878	D431G	probably damaging	Het
Dock8	G	A	19: 25,171,619	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,222,667	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,619,681	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,351,441	L257P	probably damaging	Het
Gm20402	C	T	3: 52,268,890	P30L	probably damaging	Het
Gm7932	C	T	6: 48,862,859		noncoding transcript	Het
Gpatch8	A	T	11: 102,480,941	D590E	unknown	Het
Herc1	T	G	9: 66,451,492		probably benign	Het
Hsd3b2	T	A	3: 98,711,559	I357F	probably benign	Het
Ipo5	A	G	14: 120,919,984	Y78C	probably damaging	Het
Itga8	C	A	2: 12,132,486	A23S	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Knstrn	A	G	2: 118,830,955		probably benign	Het
Med23	A	G	10: 24,870,483		probably benign	Het
Mefv	A	G	16: 3,715,715	Y231H	probably benign	Het
Olfr1425	A	T	19: 12,074,083	I183N	possibly damaging	Het
Olfr1507	T	A	14: 52,490,167	I266F	probably benign	Het
Olfr494	T	A	7: 108,367,601	I37N	probably damaging	Het
Olfr935	A	G	9: 38,995,415	S7P	probably damaging	Het
Pak7	G	T	2: 136,116,463	T235K	probably benign	Het
Plppr3	G	T	10: 79,866,126	P294Q	probably benign	Het
Prepl	A	G	17: 85,064,649	F725L	probably benign	Het
Ptchd3	A	T	11: 121,836,587		probably benign	Het
Rprd2	T	C	3: 95,764,863	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,490,602	E352*	probably null	Het
Sccpdh	T	A	1: 179,680,588	H14Q	probably benign	Het
Senp7	A	G	16: 56,169,871	I661V	probably benign	Het
Sept3	T	C	15: 82,290,427	F140L	probably damaging	Het
Spag6	G	T	2: 18,710,606	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,519,540	R137H	probably damaging	Het
Trank1	A	G	9: 111,365,133	S742G	probably benign	Het
Ucn3	T	C	13: 3,941,413	I80V	probably benign	Het
Ulk2	A	T	11: 61,803,796		probably benign	Het
Uncx	C	T	5: 139,547,629	S483L	probably benign	Het
Vps39	A	G	2: 120,324,662	V550A	probably damaging	Het
Zfp697	C	A	3: 98,428,593	T558K	probably damaging	Het
Zfp790	G	T	7: 29,829,504	G538V	probably damaging	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
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'- TCTCATCTCGAGCTGCGTTG -3'
(R):5'- AGCTTCAGTCCTTCCATGGG -3'

Sequencing Primer
(F):5'- TTGGCCGAAAGCAGGCTTG -3'
(R):5'- CTTCAGTCCTTCCATGGGAGGAG -3'

Posted On

2017-03-31