Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Kat2a'

62752

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

038894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0711 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100706471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 625 (V625E)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (fasta)

Gene Model

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

AlphaFold

Q9JHD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006973
AA Change: V625E

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

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V625E

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 damaging
Transcript: ENSMUST00000103118
AA Change: V626E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V626E

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: ENSMUST00000150656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153526

Meta Mutation Damage Score

0.7061

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

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
1110002E22Rik	T	A	3: 138,068,225	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 105,708,931		probably null	Het
Adamtsl3	T	A	7: 82,465,699		probably benign	Het
Afdn	C	T	17: 13,852,436	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326	A391V	probably damaging	Het
Arhgef28	T	G	13: 97,931,254	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,524,451	M1839I	probably benign	Het
BC005537	T	C	13: 24,805,940	F129L	probably damaging	Het
Celf2	A	G	2: 6,721,415		probably null	Het
Chid1	C	T	7: 141,496,677	V325I	probably benign	Het
Cnn3	T	A	3: 121,449,984	D31E	probably benign	Het
Col12a1	G	A	9: 79,652,035	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,351,870	R430W	probably benign	Het
Daw1	T	C	1: 83,191,338		probably benign	Het
Dcaf13	A	G	15: 39,138,089	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,087,602	I2666V	probably damaging	Het
Dnaic2	A	C	11: 114,754,332	D531A	probably benign	Het
Dock10	A	T	1: 80,523,975	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,859,872	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,623,911		probably benign	Het
Ermp1	A	G	19: 29,631,388	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,373,419		probably benign	Het
Golgb1	A	T	16: 36,918,790	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,117,739	M245K	probably damaging	Het
Iars2	A	T	1: 185,322,388		probably benign	Het
Icosl	T	A	10: 78,073,941	V240D	probably damaging	Het
Igsf3	T	C	3: 101,427,393	M262T	probably benign	Het
Ing3	G	T	6: 21,971,237	E336*	probably null	Het
Ksr1	A	G	11: 79,038,247		probably benign	Het
Lypd8	A	T	11: 58,386,757	M122L	probably benign	Het
Mdfi	A	T	17: 47,832,930		probably benign	Het
Med13	A	G	11: 86,301,353		probably benign	Het
Msh6	C	T	17: 87,986,684	R956C	probably damaging	Het
Myo15b	A	G	11: 115,883,838	E670G	probably damaging	Het
Myo1d	A	G	11: 80,484,332	L972P	probably damaging	Het
Olfr1193	A	G	2: 88,678,674	D266G	probably damaging	Het
Olfr632	G	A	7: 103,937,817	A146T	probably benign	Het
Olfr834	T	A	9: 18,988,151	N54K	probably benign	Het
Pde8b	C	G	13: 95,107,817	S143T	possibly damaging	Het
Pias4	G	T	10: 81,157,530		probably benign	Het
Prkca	A	G	11: 107,981,654	Y427H	probably benign	Het
Psg25	G	A	7: 18,529,560	Q113*	probably null	Het
Rab3gap2	T	A	1: 185,249,926	S392T	probably damaging	Het
Scrib	A	G	15: 76,066,907		probably benign	Het
Sdk2	A	G	11: 113,903,144		probably benign	Het
Serpinb1c	T	A	13: 32,886,283		probably benign	Het
Serpinb9f	T	A	13: 33,327,921	W136R	probably damaging	Het
Skint10	C	A	4: 112,715,905		probably benign	Het
Slc25a13	T	C	6: 6,117,128	T196A	probably damaging	Het
Slc26a5	T	C	5: 21,847,232	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,598,757		probably benign	Het
Slitrk6	A	T	14: 110,749,819	Y819N	probably damaging	Het
Spata46	C	T	1: 170,312,034	Q201*	probably null	Het
Sptbn1	A	T	11: 30,114,739	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,778,517	F256L	probably benign	Het
Tmco3	T	A	8: 13,292,039	N104K	probably damaging	Het
Tmem200c	A	G	17: 68,842,254	T611A	probably damaging	Het
Tmem202	T	G	9: 59,525,372	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,749,419	L230P	probably damaging	Het
Trim56	C	T	5: 137,112,992	E557K	probably benign	Het
Trrap	C	T	5: 144,853,499	L3590F	probably damaging	Het
Ttc37	C	T	13: 76,182,891	P1480L	probably damaging	Het
Tulp4	A	G	17: 6,139,112	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201	A297G	probably benign	Het
Vwf	T	A	6: 125,626,271	H861Q	probably benign	Het
Wdr64	T	C	1: 175,772,185	I536T	probably benign	Het
Zfp72	G	A	13: 74,376,425		probably benign	Het
Zfp850	T	C	7: 27,990,273	N170S	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
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
R9472:Kat2a	UTSW	11	100705371	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GATGATCTGAGGAAGCGAGGTTCTG -3'
(R):5'- GGTTCTCACACTGCTACCCTGATG -3'

Sequencing Primer
(F):5'- CTTTTTCTAAGAGGCAGGGCAG -3'
(R):5'- CTGCTACCCTGATGATCAGAG -3'

Posted On

2013-07-30