Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Kat2b'

56845

Institutional Source

Beutler Lab

Gene Symbol

Kat2b

Ensembl Gene

ENSMUSG00000000708

Gene Name

K(lysine) acetyltransferase 2B

Synonyms

A930006P13Rik, Pcaf

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53873889-53979748 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 53951771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000166525]

AlphaFold

Q9JHD1

Predicted Effect

probably benign
Transcript: ENSMUST00000000724

SMART Domains

Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	32	55	N/A	INTRINSIC
Pfam:PCAF_N	56	308	6.2e-114	PFAM
low complexity region	461	472	N/A	INTRINSIC
Pfam:Acetyltransf_7	522	605	1.5e-11	PFAM
Pfam:Acetyltransf_1	530	604	3.2e-11	PFAM
low complexity region	643	659	N/A	INTRINSIC
BROMO	702	810	1.08e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166525

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abrnomal phenotype. [provided by MGI curators]

Allele List at MGI

All alleles(122) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(119)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	Het

Other mutations in Kat2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Kat2b	APN	17	53,970,651 (GRCm39)	missense	possibly damaging	0.46
IGL00793:Kat2b	APN	17	53,972,852 (GRCm39)	missense	probably benign	0.00
IGL01628:Kat2b	APN	17	53,917,925 (GRCm39)	missense	possibly damaging	0.89
IGL02494:Kat2b	APN	17	53,960,233 (GRCm39)	missense	probably damaging	1.00
IGL03347:Kat2b	APN	17	53,931,379 (GRCm39)	critical splice acceptor site	probably null
cakewalk	UTSW	17	53,945,550 (GRCm39)	missense	probably damaging	1.00
fracking	UTSW	17	53,931,450 (GRCm39)	missense	probably damaging	1.00
D605:Kat2b	UTSW	17	53,936,358 (GRCm39)	missense	probably damaging	1.00
R0060:Kat2b	UTSW	17	53,961,571 (GRCm39)	missense	probably damaging	1.00
R0225:Kat2b	UTSW	17	53,948,238 (GRCm39)	missense	probably damaging	1.00
R0372:Kat2b	UTSW	17	53,945,565 (GRCm39)	missense	possibly damaging	0.95
R0639:Kat2b	UTSW	17	53,874,566 (GRCm39)	missense	probably benign	0.38
R0780:Kat2b	UTSW	17	53,874,476 (GRCm39)	missense	unknown
R1240:Kat2b	UTSW	17	53,931,425 (GRCm39)	missense	probably benign	0.00
R2346:Kat2b	UTSW	17	53,917,932 (GRCm39)	missense	probably benign	0.07
R3402:Kat2b	UTSW	17	53,972,881 (GRCm39)	missense	probably damaging	1.00
R3776:Kat2b	UTSW	17	53,874,609 (GRCm39)	splice site	probably null
R4009:Kat2b	UTSW	17	53,951,769 (GRCm39)	splice site	probably null
R4011:Kat2b	UTSW	17	53,951,769 (GRCm39)	splice site	probably null
R4543:Kat2b	UTSW	17	53,960,168 (GRCm39)	missense	probably benign
R4598:Kat2b	UTSW	17	53,977,826 (GRCm39)	missense	probably benign	0.02
R4785:Kat2b	UTSW	17	53,960,231 (GRCm39)	missense	possibly damaging	0.81
R5079:Kat2b	UTSW	17	53,970,666 (GRCm39)	missense	probably damaging	1.00
R5475:Kat2b	UTSW	17	53,970,609 (GRCm39)	missense	probably damaging	1.00
R6993:Kat2b	UTSW	17	53,945,550 (GRCm39)	missense	probably damaging	1.00
R7047:Kat2b	UTSW	17	53,970,597 (GRCm39)	missense	probably benign	0.01
R7058:Kat2b	UTSW	17	53,972,894 (GRCm39)	missense	probably benign	0.00
R7199:Kat2b	UTSW	17	53,977,706 (GRCm39)	missense	probably damaging	1.00
R7276:Kat2b	UTSW	17	53,931,450 (GRCm39)	missense	probably damaging	1.00
R7418:Kat2b	UTSW	17	53,917,953 (GRCm39)	missense	possibly damaging	0.94
R7535:Kat2b	UTSW	17	53,931,431 (GRCm39)	missense	probably damaging	1.00
R7561:Kat2b	UTSW	17	53,948,286 (GRCm39)	missense	probably benign	0.22
R7723:Kat2b	UTSW	17	53,945,415 (GRCm39)	missense	possibly damaging	0.62
R7976:Kat2b	UTSW	17	53,955,835 (GRCm39)	missense	probably benign	0.00
R8250:Kat2b	UTSW	17	53,970,564 (GRCm39)	missense	probably damaging	1.00
R8277:Kat2b	UTSW	17	53,948,281 (GRCm39)	missense	probably benign	0.01
R8969:Kat2b	UTSW	17	53,967,116 (GRCm39)	nonsense	probably null
R9136:Kat2b	UTSW	17	53,936,364 (GRCm39)	missense	probably benign	0.00
R9281:Kat2b	UTSW	17	53,931,425 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATGAAGTTCAGCCTCCACGTCC -3'
(R):5'- TGTTTGTTACACAGCAGTACACTCCC -3'

Sequencing Primer
(F):5'- CAGTGAGTTATACTCCATGACTGTC -3'
(R):5'- GCAGTACACTCCCAAAGTCTAATG -3'

Posted On

2013-07-11