Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Kat2a'

710049

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 #

R9381 (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 C at 100711866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 132 (Q132R)

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: Q132R

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q132R

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: Q132R

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q132R

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
9930111J21Rik1	T	A	11: 48,948,377	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,494,088	Y261C	probably damaging	Het
Acadl	T	C	1: 66,854,646	T117A	probably benign	Het
Adamts15	A	G	9: 30,902,520	V783A	probably damaging	Het
Aff1	A	T	5: 103,833,867	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,442,381	E74A	probably damaging	Het
Aig1	T	C	10: 13,647,673	E238G	probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,054,005	Y958F	probably damaging	Het
Arhgef28	C	A	13: 97,899,761	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,101,088	L475P	probably damaging	Het
Atg9a	T	A	1: 75,186,082	M430L	probably benign	Het
Bco1	T	A	8: 117,110,892	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,665,283	L396P	probably damaging	Het
C5ar2	A	T	7: 16,236,962	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 180,141,483	S1212P	probably damaging	Het
Ceacam3	C	G	7: 17,159,790	Q409E		Het
Ces3b	T	C	8: 105,085,038	V62A	probably benign	Het
Dalrd3	A	G	9: 108,571,043		probably null	Het
Ddhd2	G	T	8: 25,749,822	A288E	probably benign	Het
Dnah17	T	A	11: 118,023,393	M4435L	probably benign	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,139,558	Y168H	unknown	Het
Elavl2	T	C	4: 91,308,772	N23S	probably benign	Het
Elfn1	T	C	5: 139,973,707	V822A	probably damaging	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Exoc5	C	T	14: 49,037,737	S202N	probably benign	Het
Fryl	T	C	5: 73,083,294	D1321G	probably benign	Het
Gm12258	C	T	11: 58,859,181	T394I	unknown	Het
Gm28363	T	A	1: 117,726,885	S85T	probably damaging	Het
Gm5724	T	C	6: 141,765,764	I74V	probably benign	Het
H2-Q1	A	G	17: 35,323,162	T237A	probably damaging	Het
Hectd4	A	T	5: 121,334,429	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,921,866	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,665,978	N63S	probably benign	Het
Il20rb	A	G	9: 100,461,488	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,531,719	F439I	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kcnq2	A	G	2: 181,109,769	I278T	probably damaging	Het
Lama1	T	C	17: 67,737,484	V126A		Het
Lama2	T	A	10: 27,188,027	R1285*	probably null	Het
Larp1	A	G	11: 58,058,706	T1054A	probably benign	Het
Lrp1	A	T	10: 127,605,468	M262K	probably benign	Het
Lrrd1	A	G	5: 3,851,074	I460V	probably benign	Het
Ltbp1	A	T	17: 75,389,439	N1606I	probably damaging	Het
Mdga2	T	C	12: 66,550,530	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,601,754	H236R	probably damaging	Het
Mrps31	G	A	8: 22,414,736	R47K	probably damaging	Het
Nae1	A	T	8: 104,523,607	I218K	probably benign	Het
Npy2r	T	C	3: 82,541,049	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,563,472	L350F	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1489	G	T	19: 13,633,283	M57I	probably damaging	Het
Olfr469	A	C	7: 107,822,605	L288W	probably damaging	Het
Olfr557	A	T	7: 102,698,447	M70L	probably damaging	Het
Pabpc1l	G	T	2: 164,025,503	C8F	probably benign	Het
Pafah1b3	A	C	7: 25,295,274	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,708,318	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,224,992	M399L	probably benign	Het
Prpsap2	T	C	11: 61,744,956	I173V	probably benign	Het
Rabggtb	A	T	3: 153,908,180	W252R	probably damaging	Het
Raph1	A	G	1: 60,501,800	F351L	unknown	Het
Rasd2	T	C	8: 75,221,961	S172P	probably damaging	Het
Rbm15	T	C	3: 107,331,436	T549A	probably benign	Het
Reln	A	G	5: 22,344,204	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,271,745	N439K	probably benign	Het
Scap	C	A	9: 110,378,771	A516D	probably damaging	Het
Selplg	T	C	5: 113,819,856	T130A	probably benign	Het
Slc12a7	A	G	13: 73,800,944	M697V	probably benign	Het
Slc22a29	A	G	19: 8,218,477	I66T	probably benign	Het
Snrnp48	A	C	13: 38,220,691	I241L	probably damaging	Het
Sptb	C	T	12: 76,587,518	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,334	S192P	probably benign	Het
Svil	A	T	18: 5,099,013	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,219,086	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,804,315	E277G	probably benign	Het
Tmtc4	T	G	14: 122,926,029	I648L	probably benign	Het
Togaram1	T	C	12: 64,967,430	V485A	probably damaging	Het
Trim43b	T	C	9: 89,087,589	I269V	probably benign	Het
Trpm2	T	A	10: 77,911,357	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,462,961	I106F	possibly damaging	Het
Vdr	G	A	15: 97,857,452	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433	S689P	probably benign	Het
Wipf2	A	G	11: 98,896,242	T366A	probably damaging	Het
Zfp128	T	C	7: 12,890,970	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,216,588	T694I	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
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
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'- TCCCTACCCAATATTTCCTTAGAAG -3'
(R):5'- GGTCTTCTCAGCTTGCAAGG -3'

Sequencing Primer
(F):5'- CTTAGAAGGTCTCCAAGAAGCTCTG -3'
(R):5'- AGCTTGCAAGGTGGGGG -3'

Posted On

2022-04-18