Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Kat2b'

345388

Institutional Source

Beutler Lab

Gene Symbol

Kat2b

Ensembl Gene

ENSMUSG00000000708

Gene Name

K(lysine) acetyltransferase 2B

Synonyms

Pcaf, A930006P13Rik

MMRRC Submission

041814-MU

Accession Numbers

Genbank: NM_020005

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53566861-53672720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53670798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 791 (Y791C)

Ref Sequence

ENSEMBL: ENSMUSP00000000724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000024736] [ENSMUST00000166525]

AlphaFold

Q9JHD1

Predicted Effect

probably benign
Transcript: ENSMUST00000000724
AA Change: Y791C

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: Y791C

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: ENSMUST00000024736

SMART Domains

Protein: ENSMUSP00000024736
Gene: ENSMUSG00000023940

Domain	Start	End	E-Value	Type
Pfam:Shugoshin_N	22	66	6.2e-12	PFAM
low complexity region	273	290	N/A	INTRINSIC
Pfam:Shugoshin_C	463	486	2.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166525

Predicted Effect

probably benign
Transcript: ENSMUST00000171072

SMART Domains

Protein: ENSMUSP00000127807
Gene: ENSMUSG00000000708

Domain	Start	End	E-Value	Type
SCOP:d1qsta_	2	48	6e-26	SMART
PDB:1CM0\|A	2	50	1e-28	PDB
low complexity region	54	70	N/A	INTRINSIC
Blast:BROMO	71	98	2e-11	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,747,964 (GRCm38)		probably null	Het
Abca14	T	C	7: 120,255,403 (GRCm38)	V930A	probably benign	Het
Abcb7	A	C	X: 104,323,382 (GRCm38)	D135E	probably benign	Het
Ace	T	A	11: 105,981,759 (GRCm38)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm38)	D110G	probably benign	Het
Ak9	C	T	10: 41,383,911 (GRCm38)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,979,341 (GRCm38)	S972P	probably damaging	Het
Bmf	C	A	2: 118,549,128 (GRCm38)	A56S	probably benign	Het
C6	T	C	15: 4,763,370 (GRCm38)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,848,329 (GRCm38)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,247,274 (GRCm38)	T69A	probably benign	Het
Cep162	A	G	9: 87,203,795 (GRCm38)	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 63,103,790 (GRCm38)	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,805,683 (GRCm38)	N41K	probably damaging	Het
Clock	T	C	5: 76,235,810 (GRCm38)	M499V	probably benign	Het
Col5a3	A	G	9: 20,774,559 (GRCm38)		probably null	Het
Coq6	T	C	12: 84,362,139 (GRCm38)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,390,417 (GRCm38)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183 (GRCm38)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,467,051 (GRCm38)		probably null	Het
Dock2	T	A	11: 34,239,536 (GRCm38)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,640,710 (GRCm38)	I67L	probably benign	Het
Epor	A	G	9: 21,961,859 (GRCm38)	S86P	probably benign	Het
Esp31	T	A	17: 38,641,121 (GRCm38)		probably null	Het
Esrp2	A	G	8: 106,132,711 (GRCm38)	M498T	probably damaging	Het
F5	T	C	1: 164,204,797 (GRCm38)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,585,477 (GRCm38)	H1259Q	probably benign	Het
Gale	C	A	4: 135,967,837 (GRCm38)	S341*	probably null	Het
Ints12	T	A	3: 133,098,453 (GRCm38)	I67N	probably benign	Het
Kazn	A	G	4: 142,210,092 (GRCm38)	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,803,160 (GRCm38)	T109A	probably damaging	Het
Med13	T	C	11: 86,278,566 (GRCm38)	T1955A	probably damaging	Het
Megf10	G	A	18: 57,189,603 (GRCm38)		probably null	Het
Megf10	A	T	18: 57,287,812 (GRCm38)	S841C	probably damaging	Het
Mep1a	A	G	17: 43,491,578 (GRCm38)		probably null	Het
Mrap2	A	T	9: 87,182,789 (GRCm38)	E194D	probably damaging	Het
Msh2	A	G	17: 87,708,578 (GRCm38)	K546R	probably damaging	Het
Ndc80	T	C	17: 71,521,068 (GRCm38)	D88G	probably damaging	Het
Nrip1	A	G	16: 76,293,080 (GRCm38)	F530L	probably damaging	Het
Olfr1380	T	C	11: 49,564,718 (GRCm38)	S266P	probably damaging	Het
Olfr1504	A	T	19: 13,888,017 (GRCm38)	H64Q	probably damaging	Het
Olfr676	A	C	7: 105,036,073 (GRCm38)	I292L	probably benign	Het
Olfr812	T	C	10: 129,842,995 (GRCm38)	T16A	possibly damaging	Het
Oxtr	C	T	6: 112,489,752 (GRCm38)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,068,757 (GRCm38)	K464N	probably benign	Het
Pja2	A	T	17: 64,313,030 (GRCm38)	M1K	probably null	Het
Pkhd1	A	T	1: 20,503,056 (GRCm38)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,880,180 (GRCm38)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,123,459 (GRCm38)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,095,497 (GRCm38)	I132T	probably benign	Het
Rpgr	A	G	X: 10,196,016 (GRCm38)	S343P	probably benign	Het
Rsu1	T	C	2: 13,170,004 (GRCm38)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,770,453 (GRCm38)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,506,149 (GRCm38)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,740,737 (GRCm38)	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,953,551 (GRCm38)	D65G	probably benign	Het
Slc25a45	A	G	19: 5,884,436 (GRCm38)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,856,380 (GRCm38)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,903,674 (GRCm38)	D270N	probably damaging	Het
Taar8b	T	C	10: 24,091,838 (GRCm38)	S153G	probably benign	Het
Top1	A	G	2: 160,720,965 (GRCm38)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,513,766 (GRCm38)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,500,117 (GRCm38)	R79C	probably damaging	Het
Usp29	A	G	7: 6,962,480 (GRCm38)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,583,767 (GRCm38)	L182*	probably null	Het
Zgrf1	T	C	3: 127,601,030 (GRCm38)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,291,005 (GRCm38)	R493L	probably benign	Het

Other mutations in Kat2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Kat2b	APN	17	53,663,623 (GRCm38)	missense	possibly damaging	0.46
IGL00793:Kat2b	APN	17	53,665,824 (GRCm38)	missense	probably benign	0.00
IGL01628:Kat2b	APN	17	53,610,897 (GRCm38)	missense	possibly damaging	0.89
IGL02494:Kat2b	APN	17	53,653,205 (GRCm38)	missense	probably damaging	1.00
IGL03347:Kat2b	APN	17	53,624,351 (GRCm38)	critical splice acceptor site	probably null
cakewalk	UTSW	17	53,638,522 (GRCm38)	missense	probably damaging	1.00
fracking	UTSW	17	53,624,422 (GRCm38)	missense	probably damaging	1.00
D605:Kat2b	UTSW	17	53,629,330 (GRCm38)	missense	probably damaging	1.00
R0060:Kat2b	UTSW	17	53,654,543 (GRCm38)	missense	probably damaging	1.00
R0225:Kat2b	UTSW	17	53,641,210 (GRCm38)	missense	probably damaging	1.00
R0372:Kat2b	UTSW	17	53,638,537 (GRCm38)	missense	possibly damaging	0.95
R0638:Kat2b	UTSW	17	53,644,743 (GRCm38)	splice site	probably benign
R0639:Kat2b	UTSW	17	53,567,538 (GRCm38)	missense	probably benign	0.38
R0780:Kat2b	UTSW	17	53,567,448 (GRCm38)	missense	unknown
R1240:Kat2b	UTSW	17	53,624,397 (GRCm38)	missense	probably benign	0.00
R2346:Kat2b	UTSW	17	53,610,904 (GRCm38)	missense	probably benign	0.07
R3402:Kat2b	UTSW	17	53,665,853 (GRCm38)	missense	probably damaging	1.00
R3776:Kat2b	UTSW	17	53,567,581 (GRCm38)	splice site	probably null
R4009:Kat2b	UTSW	17	53,644,741 (GRCm38)	splice site	probably null
R4011:Kat2b	UTSW	17	53,644,741 (GRCm38)	splice site	probably null
R4543:Kat2b	UTSW	17	53,653,140 (GRCm38)	missense	probably benign
R4785:Kat2b	UTSW	17	53,653,203 (GRCm38)	missense	possibly damaging	0.81
R5079:Kat2b	UTSW	17	53,663,638 (GRCm38)	missense	probably damaging	1.00
R5475:Kat2b	UTSW	17	53,663,581 (GRCm38)	missense	probably damaging	1.00
R6993:Kat2b	UTSW	17	53,638,522 (GRCm38)	missense	probably damaging	1.00
R7047:Kat2b	UTSW	17	53,663,569 (GRCm38)	missense	probably benign	0.01
R7058:Kat2b	UTSW	17	53,665,866 (GRCm38)	missense	probably benign	0.00
R7199:Kat2b	UTSW	17	53,670,678 (GRCm38)	missense	probably damaging	1.00
R7276:Kat2b	UTSW	17	53,624,422 (GRCm38)	missense	probably damaging	1.00
R7418:Kat2b	UTSW	17	53,610,925 (GRCm38)	missense	possibly damaging	0.94
R7535:Kat2b	UTSW	17	53,624,403 (GRCm38)	missense	probably damaging	1.00
R7561:Kat2b	UTSW	17	53,641,258 (GRCm38)	missense	probably benign	0.22
R7723:Kat2b	UTSW	17	53,638,387 (GRCm38)	missense	possibly damaging	0.62
R7976:Kat2b	UTSW	17	53,648,807 (GRCm38)	missense	probably benign	0.00
R8250:Kat2b	UTSW	17	53,663,536 (GRCm38)	missense	probably damaging	1.00
R8277:Kat2b	UTSW	17	53,641,253 (GRCm38)	missense	probably benign	0.01
R8969:Kat2b	UTSW	17	53,660,088 (GRCm38)	nonsense	probably null
R9136:Kat2b	UTSW	17	53,629,336 (GRCm38)	missense	probably benign	0.00
R9281:Kat2b	UTSW	17	53,624,397 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCAAGAGTGTAGCTTTCTTCCCAC -3'
(R):5'- CAAGTCTCTTCAACACATGATGTAC -3'

Sequencing Primer
(F):5'- CCTTGTCAGCTGCTGAGAG -3'
(R):5'- ACACTGCTGATGTGTGTC -3'

Posted On

2015-09-25