Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Kat2a'

188804

Institutional Source

Beutler Lab

Gene Symbol

Kat2a

Ensembl Gene

ENSMUSG00000020918

Gene Name

K(lysine) acetyltransferase 2A

Synonyms

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

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100595572-100603291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100599437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 517 (N517D)

Ref Sequence

ENSEMBL: ENSMUSP00000006973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]

AlphaFold

Q9JHD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000006973
AA Change: N517D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: N517D

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: ENSMUST00000017974

SMART Domains

Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830

Domain	Start	End	E-Value	Type
DEXDc	2	207	2.86e-22	SMART
HELICc	387	475	3.85e-14	SMART
Blast:HELICc	497	543	4e-12	BLAST
Pfam:RIG-I_C-RD	552	667	1.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103118
AA Change: N518D

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: N518D

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

noncoding transcript
Transcript: ENSMUST00000126167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153526

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	Het

Other mutations in Kat2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kat2a	APN	11	100,596,210 (GRCm39)	missense	probably damaging	1.00
IGL00476:Kat2a	APN	11	100,596,210 (GRCm39)	missense	probably damaging	1.00
IGL00952:Kat2a	APN	11	100,596,977 (GRCm39)	missense	probably damaging	0.98
IGL01529:Kat2a	APN	11	100,602,735 (GRCm39)	missense	probably damaging	1.00
IGL02424:Kat2a	APN	11	100,601,973 (GRCm39)	splice site	probably null
IGL03338:Kat2a	APN	11	100,602,301 (GRCm39)	missense	probably benign	0.30
R0096:Kat2a	UTSW	11	100,597,297 (GRCm39)	missense	probably damaging	1.00
R0711:Kat2a	UTSW	11	100,597,297 (GRCm39)	missense	probably damaging	1.00
R0714:Kat2a	UTSW	11	100,602,178 (GRCm39)	missense	probably damaging	0.99
R0784:Kat2a	UTSW	11	100,601,667 (GRCm39)	missense	probably benign	0.05
R2152:Kat2a	UTSW	11	100,603,172 (GRCm39)	unclassified	probably benign
R2177:Kat2a	UTSW	11	100,601,648 (GRCm39)	missense	probably damaging	1.00
R2510:Kat2a	UTSW	11	100,602,968 (GRCm39)	missense	probably benign	0.32
R2570:Kat2a	UTSW	11	100,601,648 (GRCm39)	missense	probably damaging	1.00
R4175:Kat2a	UTSW	11	100,596,092 (GRCm39)	missense	probably damaging	1.00
R4965:Kat2a	UTSW	11	100,603,030 (GRCm39)	unclassified	probably benign
R4965:Kat2a	UTSW	11	100,603,029 (GRCm39)	unclassified	probably benign
R5316:Kat2a	UTSW	11	100,602,996 (GRCm39)	missense	possibly damaging	0.77
R5732:Kat2a	UTSW	11	100,599,066 (GRCm39)	missense	probably damaging	1.00
R5954:Kat2a	UTSW	11	100,599,724 (GRCm39)	missense	possibly damaging	0.89
R6618:Kat2a	UTSW	11	100,603,196 (GRCm39)	unclassified	probably benign
R6719:Kat2a	UTSW	11	100,602,967 (GRCm39)	missense	probably benign	0.00
R6731:Kat2a	UTSW	11	100,599,099 (GRCm39)	missense	probably damaging	0.98
R7291:Kat2a	UTSW	11	100,601,726 (GRCm39)	missense	possibly damaging	0.55
R7373:Kat2a	UTSW	11	100,599,392 (GRCm39)	missense	probably benign	0.00
R7632:Kat2a	UTSW	11	100,599,422 (GRCm39)	nonsense	probably null
R8305:Kat2a	UTSW	11	100,600,304 (GRCm39)	missense	possibly damaging	0.77
R8322:Kat2a	UTSW	11	100,603,116 (GRCm39)	missense	unknown
R8729:Kat2a	UTSW	11	100,601,337 (GRCm39)	missense	probably benign	0.10
R9381:Kat2a	UTSW	11	100,602,692 (GRCm39)	missense	possibly damaging	0.50
R9432:Kat2a	UTSW	11	100,602,178 (GRCm39)	missense	probably damaging	0.99
R9472:Kat2a	UTSW	11	100,596,197 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GAGCCCTGTTATTAAGAGAGCGTCC -3'
(R):5'- AATGAGGTCATGCTGACGATCACTG -3'

Sequencing Primer
(F):5'- TATTAAGAGAGCGTCCGGTGTAG -3'
(R):5'- TGACGATCACTGACCCCG -3'

Posted On

2014-05-09