Mutagenetix > Incidental Mutation

Incidental Mutation 'R2510:Kat2a'

252002

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

040416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100712142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 88 (Q88R)

Ref Sequence

ENSEMBL: ENSMUSP00000099407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017976] [ENSMUST00000019317] [ENSMUST00000103118] [ENSMUST00000107364] [ENSMUST00000169833]

AlphaFold

Q9JHD2

Predicted Effect

probably benign
Transcript: ENSMUST00000006973
AA Change: Q88R

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q88R

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 benign
Transcript: ENSMUST00000103118
AA Change: Q88R

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q88R

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

0.0971

Coding Region Coverage

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

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,625,300	M506V	probably benign	Het
4930571K23Rik	C	A	7: 125,369,139		noncoding transcript	Het
Adra1d	C	A	2: 131,562,135	E12*	probably null	Het
Ago4	A	T	4: 126,517,071	D208E	probably damaging	Het
Agrn	A	T	4: 156,166,424		probably null	Het
Atxn2	C	T	5: 121,781,393	S388L	probably damaging	Het
Bbox1	A	T	2: 110,305,631	M1K	probably null	Het
Btaf1	G	A	19: 37,002,445	R1538H	probably benign	Het
Car11	G	A	7: 45,701,359	G93E	probably damaging	Het
Col18a1	A	G	10: 77,096,268	L329P	unknown	Het
Copb2	T	A	9: 98,571,648		probably benign	Het
Dnah2	G	T	11: 69,524,206	S234*	probably null	Het
Dnah9	T	C	11: 66,005,169	Y2460C	probably damaging	Het
Dnaic2	G	C	11: 114,757,167		probably benign	Het
Dst	C	A	1: 34,212,286	T1814K	probably benign	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fancm	A	T	12: 65,113,770		probably benign	Het
Fsip2	T	C	2: 82,986,438	S4172P	probably benign	Het
G530012D18Rik	T	G	1: 85,577,204		probably benign	Het
Gca	T	G	2: 62,689,974	S159R	probably damaging	Het
Gja8	T	G	3: 96,919,717	T210P	probably damaging	Het
Gm10639	T	A	9: 78,294,807	M1K	probably null	Het
Gm13103	G	A	4: 143,851,991	V274I	probably benign	Het
Gm5117	T	A	8: 31,738,355		noncoding transcript	Het
Gm5900	T	A	7: 104,950,364		noncoding transcript	Het
Gpi1	A	G	7: 34,205,923	S359P	probably damaging	Het
Grm5	A	G	7: 88,036,091	E472G	probably benign	Het
Hoxd12	G	A	2: 74,675,471	A129T	possibly damaging	Het
Ifnlr1	G	T	4: 135,705,248	D332Y	probably damaging	Het
Ift140	T	C	17: 25,036,308	I466T	probably benign	Het
Kansl2	A	G	15: 98,528,861		probably null	Het
Kcnh7	T	C	2: 62,721,917	D910G	probably benign	Het
Klk1b1	T	C	7: 43,969,379	V60A	probably damaging	Het
Krt7	A	C	15: 101,412,657	I62L	probably benign	Het
Llgl1	A	G	11: 60,710,036	K653E	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mafb	T	G	2: 160,366,576	E34A	probably damaging	Het
Meiob	T	C	17: 24,816,597		probably benign	Het
Mllt10	C	A	2: 18,065,124	D30E	possibly damaging	Het
Mprip	T	A	11: 59,749,508		probably benign	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Mycbp2	C	T	14: 103,155,255	R3290Q	probably damaging	Het
Obscn	G	A	11: 59,042,314		probably benign	Het
Olfm3	T	A	3: 115,122,310	V277D	probably damaging	Het
Olfr1271	C	T	2: 90,265,606	V275I	probably damaging	Het
Olfr1286	G	A	2: 111,420,451	P167S	possibly damaging	Het
Olfr668	G	A	7: 104,925,687	H26Y	probably benign	Het
Olfr960	T	A	9: 39,623,431	F101I	probably damaging	Het
Omp	A	T	7: 98,145,345	M25K	possibly damaging	Het
Otoa	C	T	7: 121,160,472	T1099I	probably benign	Het
Pcdh15	T	G	10: 74,631,499	S1715A	probably benign	Het
Pcnx4	T	C	12: 72,566,972	W564R	probably damaging	Het
Pde12	T	C	14: 26,665,526	*609W	probably null	Het
Pitpnm2	T	C	5: 124,136,326	E240G	probably damaging	Het
Plppr4	G	T	3: 117,331,706	N161K	probably damaging	Het
Ppp1r37	T	C	7: 19,532,432	K470E	possibly damaging	Het
Ptprd	C	A	4: 76,086,011		probably null	Het
Rgs9	T	C	11: 109,268,972	Y178C	probably benign	Het
Rims2	T	G	15: 39,585,652	S1217R	probably damaging	Het
Rorc	C	T	3: 94,389,120	T208I	probably benign	Het
Ryr3	C	T	2: 112,675,904	E3458K	probably benign	Het
Scn5a	A	T	9: 119,533,685	V623E	probably benign	Het
Slc28a2	C	T	2: 122,451,016	Q229*	probably null	Het
Slc35f3	C	T	8: 126,298,706		probably benign	Het
Spg11	T	G	2: 122,075,310	I1285L	probably benign	Het
Sstr2	A	T	11: 113,624,923	I223F	probably damaging	Het
Susd1	A	T	4: 59,349,855	V527E	possibly damaging	Het
Tas1r2	A	G	4: 139,659,851	N207S	probably damaging	Het
Tmem57	A	G	4: 134,804,388	S657P	probably damaging	Het
Trappc10	A	G	10: 78,211,523	S380P	possibly damaging	Het
Ttn	T	C	2: 76,740,992	D26519G	probably damaging	Het
Vmn1r215	A	G	13: 23,076,173	I128V	probably benign	Het
Vmn1r37	T	C	6: 66,731,951	L150P	probably damaging	Het
Vmn2r52	G	T	7: 10,170,868	A348E	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wdyhv1	C	A	15: 58,153,624	A145D	probably damaging	Het
Ypel5	T	C	17: 72,846,391	L30P	probably damaging	Het
Zfp985	A	G	4: 147,582,986	T104A	possibly 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
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'- AAGGTTCAGTTCCCTGATGC -3'
(R):5'- GGCAAAGGAAGACTACGACTCC -3'

Sequencing Primer
(F):5'- GCTGTCTGCATCCCAAGC -3'
(R):5'- ATGGCGGAACCTTCCCAG -3'

Posted On

2014-12-04