Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Kat2a'

713040

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 #

R9432 (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 100711352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 192 (V192A)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (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: V192A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V192A

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

possibly damaging
Transcript: ENSMUST00000103118
AA Change: V192A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V192A

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

0.5140

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,737,051	R314G	unknown	Het
Abca13	G	A	11: 9,294,559	V2141M	probably benign	Het
Abcc10	G	A	17: 46,323,784	A431V	possibly damaging	Het
Acod1	A	G	14: 103,054,978	R313G	probably damaging	Het
Adam3	G	T	8: 24,703,912	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,875	T113M	possibly damaging	Het
Ano8	C	A	8: 71,480,917	R577L	unknown	Het
Arhgef7	T	A	8: 11,819,646	S653R	probably damaging	Het
Atp10a	G	A	7: 58,819,670	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,659,221	M4048V	probably benign	Het
C3	G	A	17: 57,223,950	P384S	probably damaging	Het
Camkk1	A	T	11: 73,037,931	E432V	probably damaging	Het
Celsr3	T	A	9: 108,848,833	V3087D	probably benign	Het
Ckap4	A	G	10: 84,527,679	S507P	probably damaging	Het
Coq6	G	A	12: 84,373,690	M471I	probably benign	Het
Csmd2	C	A	4: 128,277,211	H332Q		Het
Cxcr1	T	A	1: 74,192,072	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,128,725	R260S	possibly damaging	Het
Elmod2	C	A	8: 83,331,132	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,274,786	T315I	probably benign	Het
Eml1	A	G	12: 108,516,583	N487S	probably benign	Het
Epn1	G	T	7: 5,093,370	R221L	probably benign	Het
Faah	A	G	4: 116,017,575	V28A	probably benign	Het
Fbl	G	A	7: 28,177,264	R230H	probably benign	Het
Fsip2	C	T	2: 82,975,563	S742F	probably damaging	Het
Gm5460	A	G	14: 34,045,812	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,634	V262A	probably damaging	Het
Grin2c	A	T	11: 115,251,226	L789*	probably null	Het
H1f0	C	T	15: 79,028,747	P9L	probably damaging	Het
Hectd4	A	G	5: 121,322,801	T948A	probably benign	Het
Herc2	G	A	7: 56,131,184	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,286,791	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,609,274	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,098	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,637,753	T1320A	probably benign	Het
Kat6b	A	C	14: 21,622,009	H329P	probably damaging	Het
Klhl29	A	G	12: 5,210,056	L54P	probably benign	Het
Kntc1	A	T	5: 123,787,049	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,556,464	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,792,570	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,486,022	S787P	probably benign	Het
Magi1	A	G	6: 93,683,077	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,144,428	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,366,429	I15R	probably benign	Het
Myo1h	G	A	5: 114,361,305	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,106,887	I187T	possibly damaging	Het
Nos1	G	A	5: 117,896,806	V416M	probably damaging	Het
Olfr1076	T	G	2: 86,508,570	I37S	probably benign	Het
Olfr294	G	A	7: 86,615,857	R263C	possibly damaging	Het
Olfr761	A	G	17: 37,952,668	S119P	probably damaging	Het
Pcdh15	A	G	10: 74,624,338	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,745,218	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,475,630	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,497,575	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,769,791	L656R	probably damaging	Het
Plcl1	T	C	1: 55,406,428	L14P	probably benign	Het
Pzp	A	T	6: 128,522,165	I173N		Het
Rnf123	C	T	9: 108,059,809	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,199,786	D198G	probably damaging	Het
Sftpb	G	C	6: 72,306,859	A147P	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc30a6	A	G	17: 74,412,704	T220A	possibly damaging	Het
Slc5a3	T	A	16: 92,077,727	V224D	probably benign	Het
Smad5	T	A	13: 56,727,604	Y202N	probably benign	Het
Smok2b	A	G	17: 13,234,994	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,494,187	I199K	probably damaging	Het
Tcea2	A	G	2: 181,680,434	I10V	probably damaging	Het
Tfg	G	A	16: 56,704,505	R113*	probably null	Het
Tubb4a	A	T	17: 57,081,034	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,254,187	V195A	probably damaging	Het
Umad1	A	G	6: 8,401,096	H55R	unknown	Het
Vmn1r176	A	T	7: 23,835,318	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,893,491	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,602,252	T69A		Het
Vmn2r59	A	T	7: 42,046,830	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,922,855	D1514E	probably benign	Het
Vsir	A	G	10: 60,357,953	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,780,090	M112L	probably benign	Het
Zfp26	T	A	9: 20,436,534	K911N	probably damaging	Het
Zfp362	C	T	4: 128,777,187	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,317,343	Y288*	probably null	Het
Zfyve28	G	T	5: 34,243,289	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,236,910	D32A	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
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
R9472:Kat2a	UTSW	11	100705371	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAATGTTAGGCTTCTCAAATGGG -3'
(R):5'- AGGTACAGGAATCAAGCCCC -3'

Sequencing Primer
(F):5'- GCTGCCTAGAGACCCCTC -3'
(R):5'- AATCAAGCCCCGTGGAGCTC -3'

Posted On

2022-05-16