Mutagenetix > Incidental Mutation

Incidental Mutation 'R6719:Kat2a'

529502

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 #

R6719 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100704746-100712465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100712141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 88 (Q88H)

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: Q88H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q88H

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: Q88H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q88H

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

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
4933411K16Rik	T	C	19: 42,052,712	I94T	possibly damaging	Het
Afp	T	A	5: 90,503,703	N392K	probably benign	Het
Asrgl1	C	T	19: 9,113,148	G278D	probably damaging	Het
Atp2c1	T	C	9: 105,424,178	I611V	probably damaging	Het
Avl9	A	G	6: 56,753,385	Y571C	probably damaging	Het
Clrn1	A	T	3: 58,846,440	C167S	probably damaging	Het
Ctsr	C	T	13: 61,160,451	G293D	possibly damaging	Het
Dmbt1	T	A	7: 131,119,603	S1867T	possibly damaging	Het
Dock9	A	T	14: 121,610,027	I1025N	probably damaging	Het
Dppa4	G	A	16: 48,287,884	A11T	probably damaging	Het
Duox2	T	A	2: 122,284,386		probably null	Het
Fat3	A	G	9: 15,996,144	L2854P	probably benign	Het
Fcer1a	A	G	1: 173,222,773	S61P	possibly damaging	Het
Fyb2	A	T	4: 105,010,459	D669V	probably benign	Het
Herc2	G	T	7: 56,212,826	C4081F	probably damaging	Het
Hexim1	T	C	11: 103,117,265	L115P	probably benign	Het
Lrriq1	T	C	10: 103,071,116	Y1581C	probably damaging	Het
Ltbp4	T	G	7: 27,328,763	D323A	probably damaging	Het
Mark3	T	A	12: 111,615,442	I115K	probably damaging	Het
Nudt9	A	G	5: 104,061,696	D271G	probably damaging	Het
Olfr441	T	A	6: 43,115,973	V77D	probably damaging	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pcdha5	T	C	18: 36,960,872	S145P	probably damaging	Het
Pzp	T	C	6: 128,524,083	E104G	probably benign	Het
Rho	T	C	6: 115,933,893	I133T	possibly damaging	Het
Sall3	G	T	18: 80,971,506	T997K	probably damaging	Het
Scn8a	A	T	15: 101,011,015		probably null	Het
Sfxn1	T	A	13: 54,106,564	H310Q	probably benign	Het
Slc25a18	A	G	6: 120,788,254	D92G	probably damaging	Het
Slc26a9	T	C	1: 131,761,785	I490T	probably benign	Het
Terf1	T	C	1: 15,838,236	V351A	probably benign	Het
Thsd7b	A	G	1: 130,159,714		probably null	Het
Trgj2	A	G	13: 19,311,256		probably benign	Het
Tti1	A	T	2: 157,982,300	C1078S	probably benign	Het
Ttll3	A	G	6: 113,399,032		probably benign	Het
Tubb1	A	C	2: 174,457,394	T290P	probably damaging	Het
Ugt2b35	G	T	5: 87,007,388	D361Y	probably damaging	Het
Zc2hc1c	T	C	12: 85,290,672	S368P	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
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'- CAGTTCCCTGATGCTGTCTG -3'
(R):5'- GGCAAAGGAAGACTACGACTCC -3'

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

Posted On

2018-08-01