Mutagenetix > Incidental Mutation

Incidental Mutation 'R7373:Kat2a'

572233

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

045456-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100595572-100603291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100599392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 533 (A533T)

Ref Sequence

ENSEMBL: ENSMUSP00000099407 (fasta)

Gene Model

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

AlphaFold

Q9JHD2

Predicted Effect

probably benign
Transcript: ENSMUST00000006973
AA Change: A532T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: A532T

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: A533T

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

SMART Domains

Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: A533T

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

Meta Mutation Damage Score

0.0572

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	A	11: 50,686,262 (GRCm39)	A1027T	probably benign	Het
Aldh7a1	G	A	18: 56,675,389 (GRCm39)	T260M	possibly damaging	Het
Anks3	T	C	16: 4,773,735 (GRCm39)	Y187C	probably benign	Het
Atp2c2	A	T	8: 120,456,991 (GRCm39)	I198F	probably benign	Het
Bsn	T	C	9: 107,990,683 (GRCm39)	T1690A	probably damaging	Het
Catsper3	T	C	13: 55,955,945 (GRCm39)	I350T	possibly damaging	Het
Cdcp1	C	T	9: 123,006,965 (GRCm39)	R594H	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cldn1	G	T	16: 26,179,606 (GRCm39)	P154T	probably damaging	Het
Cntnap5a	A	T	1: 116,508,367 (GRCm39)	N1293I	probably benign	Het
Cpsf4l	C	T	11: 113,590,657 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,880,136 (GRCm39)	T351A	probably benign	Het
Csmd1	T	C	8: 16,042,713 (GRCm39)	N2340S	probably damaging	Het
Dennd4a	C	A	9: 64,804,551 (GRCm39)	Q1297K	probably benign	Het
Dll3	A	G	7: 27,994,057 (GRCm39)	V460A	probably benign	Het
Dnah8	T	C	17: 30,986,939 (GRCm39)		probably null	Het
Dst	G	T	1: 34,227,472 (GRCm39)	L1688F	probably benign	Het
Ehmt1	A	G	2: 24,809,585 (GRCm39)	M1T	probably null	Het
Fasn	A	T	11: 120,704,802 (GRCm39)	L1261Q	possibly damaging	Het
Fat1	A	G	8: 45,479,702 (GRCm39)	D2916G	probably damaging	Het
Fgfr3	C	A	5: 33,885,034 (GRCm39)	F49L	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hormad1	A	T	3: 95,483,628 (GRCm39)	T147S	probably damaging	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Itgb8	A	G	12: 119,166,210 (GRCm39)	V107A	probably benign	Het
Kif20b	T	C	19: 34,913,071 (GRCm39)	L328P	probably damaging	Het
Lims1	T	C	10: 58,245,442 (GRCm39)	F157S	probably damaging	Het
Lrp2	G	T	2: 69,331,036 (GRCm39)	H1673Q	probably damaging	Het
Lrrc46	C	A	11: 96,929,706 (GRCm39)	M43I	probably benign	Het
Lrrk2	T	C	15: 91,584,207 (GRCm39)		probably null	Het
Meox2	A	T	12: 37,158,797 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,714,838 (GRCm39)		probably null	Het
Mfsd5	T	A	15: 102,189,427 (GRCm39)	F266L	probably damaging	Het
Miga2	A	G	2: 30,272,083 (GRCm39)	T468A	probably damaging	Het
Mmel1	T	A	4: 154,973,665 (GRCm39)	L316Q	not run	Het
Ndufa9	C	A	6: 126,811,421 (GRCm39)	G232C	probably damaging	Het
Obox2	A	T	7: 15,131,145 (GRCm39)	K84*	probably null	Het
Or4f58	T	A	2: 111,851,787 (GRCm39)	R137S	probably benign	Het
Or51a39	T	A	7: 102,363,306 (GRCm39)	I105F	possibly damaging	Het
Otogl	G	T	10: 107,737,112 (GRCm39)	Q101K	probably damaging	Het
Pcnx2	C	T	8: 126,534,766 (GRCm39)	V1288M	probably damaging	Het
Pde10a	T	A	17: 9,161,824 (GRCm39)	W220R	probably benign	Het
Recql5	T	C	11: 115,819,198 (GRCm39)	T123A	possibly damaging	Het
Rpl28	T	C	7: 4,796,602 (GRCm39)	V61A	probably benign	Het
Secisbp2l	A	T	2: 125,599,191 (GRCm39)	M494K	probably damaging	Het
Sh3bgr	G	A	16: 96,007,035 (GRCm39)	E2K	unknown	Het
Shcbp1l	C	A	1: 153,300,986 (GRCm39)	T6K	probably benign	Het
Slc22a15	A	C	3: 101,785,213 (GRCm39)	L353R	possibly damaging	Het
Sqle	T	C	15: 59,189,658 (GRCm39)	I100T	probably benign	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tll1	A	T	8: 64,504,391 (GRCm39)	N668K	probably damaging	Het
Tm7sf2	A	G	19: 6,116,676 (GRCm39)	S118P	probably benign	Het
Tmco5	G	T	2: 116,717,226 (GRCm39)	V169L	probably benign	Het
Trpv1	A	G	11: 73,131,499 (GRCm39)	K346E	probably damaging	Het
Ttk	G	A	9: 83,736,930 (GRCm39)	R463H	probably benign	Het
Vmn2r120	G	T	17: 57,816,406 (GRCm39)	L650I	probably benign	Het
Vmn2r58	C	T	7: 41,487,212 (GRCm39)	C561Y	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,044,948 (GRCm39)	Q455L	probably benign	Het
Zfr	T	A	15: 12,140,645 (GRCm39)	S231T	unknown	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
R1652:Kat2a	UTSW	11	100,599,437 (GRCm39)	missense	probably damaging	0.98
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
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'- TGTCATGGAACTCACCTGTC -3'
(R):5'- TAGACAAGCCTGCTTTCGGC -3'

Sequencing Primer
(F):5'- ATGGAACTCACCTGTCCTCTC -3'
(R):5'- TTTCGGCCAACGCAGCTC -3'

Posted On

2019-09-13