Mutagenetix > Incidental Mutation

Incidental Mutation 'R5316:Kat2a'

405840

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

042899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5316 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100712170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 79 (Q79K)

Ref Sequence

ENSEMBL: ENSMUSP00000099407 (fasta)

Gene Model

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

AlphaFold

Q9JHD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006973
AA Change: Q79K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q79K

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: Q79K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q79K

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410015M20Rik	G	A	17: 56,609,649	S7L	possibly damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Agap2	G	A	10: 127,082,427		probably null	Het
Apol10a	A	G	15: 77,488,529	T122A	probably damaging	Het
Arhgap17	G	T	7: 123,296,527	A458D	possibly damaging	Het
Cd80	C	T	16: 38,473,877	Q41*	probably null	Het
Cmss1	T	G	16: 57,302,275	K252T	probably damaging	Het
Cog2	A	G	8: 124,529,040	D122G	probably benign	Het
Dsc3	T	A	18: 19,963,541	D841V	possibly damaging	Het
Dst	C	A	1: 34,223,848	Q4549K	probably damaging	Het
Efcab3	A	G	11: 105,076,460	I5275M	possibly damaging	Het
Epha6	A	G	16: 59,954,720	L711P	probably damaging	Het
Fam208a	A	G	14: 27,472,035	D1064G	possibly damaging	Het
Gabrg2	T	A	11: 41,976,558	N78I	probably damaging	Het
Hist1h1a	C	T	13: 23,764,102		probably benign	Het
Htra3	T	C	5: 35,664,076	D319G	probably damaging	Het
Jph1	T	C	1: 17,091,526	Y304C	probably damaging	Het
Klhl7	C	T	5: 24,127,750	A102V	probably benign	Het
Lamb3	A	G	1: 193,330,193	H426R	probably benign	Het
Lemd3	C	A	10: 120,952,256		probably null	Het
Mcm3ap	A	C	10: 76,470,926	D291A	possibly damaging	Het
Mme	C	G	3: 63,368,954	F717L	probably damaging	Het
Mybpc2	T	A	7: 44,520,382	K171*	probably null	Het
Naip6	T	C	13: 100,283,782	N1327D	probably benign	Het
Nr2e1	A	T	10: 42,571,491	M175K	probably benign	Het
Olfr160	A	T	9: 37,711,685	V198D	possibly damaging	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Ppef2	A	T	5: 92,235,811	M480K	probably benign	Het
Prkar2b	A	T	12: 32,060,985	L33Q	probably damaging	Het
Ralgps2	A	T	1: 156,813,497	V496E	probably damaging	Het
Rbms2	G	A	10: 128,145,737	P81L	probably damaging	Het
Scara5	T	C	14: 65,689,815	S54P	possibly damaging	Het
Slc18a3	T	C	14: 32,462,857	D523G	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Srrt	C	A	5: 137,296,551	A747S	probably benign	Het
Sycp2	C	T	2: 178,356,503	D1075N	probably benign	Het
Vat1l	G	A	8: 114,284,348	V279I	probably damaging	Het
Zfp677	A	G	17: 21,397,148	K156E	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
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'- CTCTATGGCTAGAGCTTCGC -3'
(R):5'- GGCAAAGGAAGACTACGACTCC -3'

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

Posted On

2016-07-22