Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Kat2b'

544004

Institutional Source

Beutler Lab

Gene Symbol

Kat2b

Ensembl Gene

ENSMUSG00000000708

Gene Name

K(lysine) acetyltransferase 2B

Synonyms

A930006P13Rik, Pcaf

MMRRC Submission

045099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53873889-53979748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53945550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 323 (L323P)

Ref Sequence

ENSEMBL: ENSMUSP00000000724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390]

AlphaFold

Q9JHD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000724
AA Change: L323P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: L323P

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: ENSMUST00000164390

SMART Domains

Protein: ENSMUSP00000127659
Gene: ENSMUSG00000000708

Domain	Start	End	E-Value	Type
Pfam:PCAF_N	1	210	6e-122	PFAM

Meta Mutation Damage Score

0.7198

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,975,053 (GRCm39)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,115,866 (GRCm39)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,620,097 (GRCm39)	I441F	probably damaging	Het
C5ar1	A	T	7: 15,982,837 (GRCm39)	V61E	probably damaging	Het
Camk2a	C	A	18: 61,076,247 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,294,673 (GRCm39)	Y579C	probably damaging	Het
Celf1	T	C	2: 90,840,821 (GRCm39)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,255,365 (GRCm39)	T178A	probably damaging	Het
Cryab	C	T	9: 50,664,748 (GRCm39)	P58S	probably benign	Het
Ctsf	G	T	19: 4,908,511 (GRCm39)	R290L	probably benign	Het
Ctsw	T	A	19: 5,515,865 (GRCm39)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,234,299 (GRCm39)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,200,294 (GRCm39)		probably null	Het
Etfb	A	G	7: 43,105,978 (GRCm39)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,519,338 (GRCm39)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,021,573 (GRCm39)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,837,642 (GRCm39)	I229N	probably damaging	Het
Fam162a	A	T	16: 35,870,215 (GRCm39)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,458,459 (GRCm39)	S44P	probably benign	Het
Fat3	T	G	9: 15,830,517 (GRCm39)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,043,610 (GRCm39)	K400E	probably benign	Het
Fndc7	A	G	3: 108,783,907 (GRCm39)	V234A	probably benign	Het
Gfi1	T	A	5: 107,865,634 (GRCm39)	H481L	probably damaging	Het
Gm5591	T	A	7: 38,218,647 (GRCm39)	H742L	probably benign	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
H2-DMb1	A	C	17: 34,376,324 (GRCm39)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,497,962 (GRCm39)	L317P	probably damaging	Het
Hes3	T	C	4: 152,371,380 (GRCm39)	T190A	probably benign	Het
Hivep1	C	T	13: 42,312,190 (GRCm39)	L1477F	possibly damaging	Het
Insr	C	T	8: 3,308,752 (GRCm39)	G95S	probably damaging	Het
Irf9	A	G	14: 55,846,414 (GRCm39)	I394V	probably benign	Het
Kdr	T	C	5: 76,133,071 (GRCm39)	D69G	probably benign	Het
Krt1c	C	T	15: 101,724,395 (GRCm39)	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,556,545 (GRCm39)	R61S	unknown	Het
Ldc1	A	G	4: 130,112,106 (GRCm39)	L192P	probably damaging	Het
Lrrc27	A	T	7: 138,822,540 (GRCm39)	K477M	probably damaging	Het
Lvrn	T	C	18: 47,015,365 (GRCm39)	V579A	probably benign	Het
Malrd1	A	T	2: 16,155,602 (GRCm39)	I2004L	unknown	Het
Mast4	A	T	13: 102,872,482 (GRCm39)	N2103K	probably benign	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Myo18a	T	A	11: 77,749,900 (GRCm39)		probably benign	Het
Or10d5	T	A	9: 39,861,933 (GRCm39)	M45L	probably benign	Het
Or52ab2	G	T	7: 102,969,998 (GRCm39)		probably benign	Het
Pcdhga10	A	G	18: 37,882,309 (GRCm39)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,747,343 (GRCm39)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,076,698 (GRCm39)	E309G	probably benign	Het
Psmb8	A	G	17: 34,418,617 (GRCm39)	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,862,299 (GRCm39)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,343,898 (GRCm39)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,564,013 (GRCm39)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,515,427 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,313,586 (GRCm39)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,106,842 (GRCm39)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,088,391 (GRCm39)	F79I	probably benign	Het
Slc2a6	G	T	2: 26,917,255 (GRCm39)	S45R	probably damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Sppl3	T	A	5: 115,220,349 (GRCm39)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,327,413 (GRCm39)	L330*	probably null	Het
Tbx5	A	T	5: 120,009,454 (GRCm39)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Unc45a	A	T	7: 79,975,403 (GRCm39)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,588,952 (GRCm39)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,822,195 (GRCm39)	L291P	probably benign	Het
Wwc2	A	T	8: 48,300,500 (GRCm39)	F988I	unknown	Het
Zfp947	G	A	17: 22,364,961 (GRCm39)	P238S	probably benign	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
R0638:Kat2b	UTSW	17	53,951,771 (GRCm39)	splice site	probably benign
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
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'- GAACTTGTCTCCTTCTTGCAGG -3'
(R):5'- CTGAGAGACTGTCCCACCAAAG -3'

Sequencing Primer
(F):5'- CAGGTGGTTGTGCTACTGC -3'
(R):5'- GGCCAACAGCTTTAAATTATTAGAAG -3'

Posted On

2019-05-13