Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01529:Kat2a'

89678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kat2a

Ensembl Gene

ENSMUSG00000020918

Gene Name

K(lysine) acetyltransferase 2A

Synonyms

Gcn5, PCAF-B/GCN5, 1110051E14Rik, Gcn5l2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01529

Quality Score

Status

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100711909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 118 (W118R)

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: W118R

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

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: W118R

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: W118R

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

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: W118R

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 84,151,414	I144N	possibly damaging	Het
Adamts19	T	A	18: 58,963,463	H588Q	probably damaging	Het
Ankrd2	A	G	19: 42,039,910	K46E	probably damaging	Het
Arhgap10	A	C	8: 77,346,291	L513V	possibly damaging	Het
Arhgef12	C	A	9: 42,990,055	R817L	probably damaging	Het
Asxl3	T	A	18: 22,517,655	N900K	probably damaging	Het
Atp9b	A	T	18: 80,844,611		probably benign	Het
Cdc27	T	C	11: 104,507,216	N773D	probably damaging	Het
Cep97	A	G	16: 55,930,618		probably benign	Het
Ddx58	G	A	4: 40,225,685	H194Y	probably benign	Het
Dgkd	T	C	1: 87,880,411	F67S	probably damaging	Het
Dolk	T	C	2: 30,285,737	T99A	probably benign	Het
Egfr	A	T	11: 16,863,014	R165W	probably benign	Het
Fat2	T	A	11: 55,282,156	D2577V	probably damaging	Het
Hsph1	T	C	5: 149,636,034	I15V	probably benign	Het
Idh2	T	C	7: 80,097,945	T276A	probably benign	Het
Jag1	T	C	2: 137,084,977	Y954C	probably damaging	Het
Kcnh6	G	T	11: 106,020,696	R636L	probably benign	Het
Klk1b16	G	T	7: 44,140,739	K144N	probably benign	Het
Lrrk2	T	A	15: 91,812,313	L2435I	possibly damaging	Het
Ltbp3	A	G	19: 5,747,839	D502G	probably benign	Het
Ltn1	A	T	16: 87,381,471	N1623K	probably benign	Het
Mcm10	C	A	2: 5,008,628	E64D	probably benign	Het
Med13l	A	G	5: 118,742,335	N1164S	probably damaging	Het
Myo1a	A	G	10: 127,720,660	N1025D	probably benign	Het
Olfr164	A	T	16: 19,286,700	D14E	probably benign	Het
Olfr944	C	T	9: 39,218,131	T258I	probably benign	Het
Pdcd11	A	G	19: 47,109,629	N785D	probably benign	Het
Psmd8	A	T	7: 29,179,151	I81N	probably damaging	Het
Ryr1	C	T	7: 29,075,227	G2330R	probably damaging	Het
Scrib	T	C	15: 76,049,235	T80A	possibly damaging	Het
Sergef	A	T	7: 46,443,518	W356R	probably damaging	Het
Slc22a19	T	C	19: 7,682,935	N370S	probably damaging	Het
Syde1	A	G	10: 78,590,181	S51P	probably benign	Het
Umodl1	A	T	17: 30,996,259	D1019V	possibly damaging	Het
Vmn2r45	A	G	7: 8,483,494	M265T	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
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
R9432:Kat2a	UTSW	11	100711352	missense	probably damaging	0.99
R9472:Kat2a	UTSW	11	100705371	missense	probably benign	0.04

Posted On

2013-12-03