Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Kat2b'

560207

Institutional Source

Beutler Lab

Gene Symbol

Kat2b

Ensembl Gene

ENSMUSG00000000708

Gene Name

K(lysine) acetyltransferase 2B

Synonyms

A930006P13Rik, Pcaf

MMRRC Submission

045277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53873889-53979748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53977706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 751 (L751P)

Ref Sequence

ENSEMBL: ENSMUSP00000000724 (fasta)

Gene Model

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

AlphaFold

Q9JHD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000724
AA Change: L751P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: L751P

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

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,902 (GRCm39)	T39A	probably damaging	Het
Abca3	G	A	17: 24,596,681 (GRCm39)	G378D	probably damaging	Het
Abtb2	T	C	2: 103,397,565 (GRCm39)	V165A	possibly damaging	Het
Ache	A	G	5: 137,288,504 (GRCm39)	E70G	probably damaging	Het
Adamtsl4	T	C	3: 95,588,119 (GRCm39)	T623A	probably benign	Het
Ahdc1	G	A	4: 132,791,935 (GRCm39)	V1059I	probably benign	Het
Ajuba	G	A	14: 54,810,915 (GRCm39)	Q357*	probably null	Het
Ano7	A	T	1: 93,330,700 (GRCm39)	D54V		Het
Apob	A	T	12: 8,055,072 (GRCm39)	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,067,992 (GRCm39)	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,110,006 (GRCm39)	T352K	probably damaging	Het
Bsn	T	C	9: 107,992,533 (GRCm39)	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,180,054 (GRCm39)	R58*	probably null	Het
C7	G	T	15: 5,023,725 (GRCm39)	S694R	probably benign	Het
Cbr2	T	A	11: 120,621,087 (GRCm39)	H170L	probably benign	Het
Cdcp3	G	A	7: 130,837,641 (GRCm39)	W512*	probably null	Het
Cgas	C	A	9: 78,340,315 (GRCm39)	K472N	probably benign	Het
Ckap2l	T	C	2: 129,126,975 (GRCm39)	N401S	probably benign	Het
Cldn1	A	G	16: 26,190,346 (GRCm39)	F11L	probably benign	Het
Cmtr1	A	G	17: 29,895,174 (GRCm39)	T118A	probably benign	Het
Cog6	T	C	3: 52,890,610 (GRCm39)	E610G	probably benign	Het
Col3a1	G	T	1: 45,371,301 (GRCm39)	A451S	probably null	Het
Cr1l	T	A	1: 194,799,878 (GRCm39)	R265S	probably benign	Het
Dapk1	T	C	13: 60,902,024 (GRCm39)	I951T	probably benign	Het
Dnah9	T	C	11: 66,009,770 (GRCm39)	N706D	probably benign	Het
Dpysl5	A	T	5: 30,940,539 (GRCm39)	T239S	probably benign	Het
Ect2l	T	A	10: 18,004,894 (GRCm39)	Y913F	probably benign	Het
Elf5	C	A	2: 103,269,641 (GRCm39)	A74D	possibly damaging	Het
Erap1	T	C	13: 74,814,258 (GRCm39)	V399A	probably benign	Het
Ercc4	A	G	16: 12,965,657 (GRCm39)	D763G	probably damaging	Het
Fam222b	T	A	11: 78,045,683 (GRCm39)	C415S	possibly damaging	Het
Fat4	A	C	3: 39,031,511 (GRCm39)	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,186,833 (GRCm39)	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282 (GRCm39)	T140S	probably damaging	Het
Gm5141	A	T	13: 62,924,877 (GRCm39)	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,007,079 (GRCm39)	L46Q	probably damaging	Het
Irak2	T	C	6: 113,650,045 (GRCm39)	L260P	probably damaging	Het
Kcnh1	T	A	1: 192,019,913 (GRCm39)	I413N	probably benign	Het
Kirrel1	T	C	3: 86,990,695 (GRCm39)	D709G	probably benign	Het
Lama4	T	C	10: 38,956,536 (GRCm39)	V1153A	possibly damaging	Het
Lipg	A	T	18: 75,088,655 (GRCm39)	F98L	probably benign	Het
Lman1	T	C	18: 66,127,936 (GRCm39)	E236G	probably damaging	Het
Lrp1	T	A	10: 127,409,325 (GRCm39)	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,650,384 (GRCm39)	N230Y	probably damaging	Het
Maneal	T	C	4: 124,750,983 (GRCm39)	S258G	possibly damaging	Het
Marchf10	T	A	11: 105,281,532 (GRCm39)	E251V	probably damaging	Het
Mpdz	A	G	4: 81,215,570 (GRCm39)	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,647,534 (GRCm39)	N1882I	probably benign	Het
Neb	G	A	2: 52,110,212 (GRCm39)	A212V	probably benign	Het
Obscn	G	A	11: 58,903,672 (GRCm39)	S7434L	probably benign	Het
Or14j8	A	C	17: 38,263,048 (GRCm39)	I289S	probably damaging	Het
Or1ad8	T	A	11: 50,898,223 (GRCm39)	C141*	probably null	Het
Or1j12	A	T	2: 36,342,872 (GRCm39)	I92F	probably damaging	Het
Or4k47	T	C	2: 111,451,538 (GRCm39)	M294V	probably benign	Het
Or8g2b	A	G	9: 39,750,753 (GRCm39)	M8V	probably benign	Het
Orc6	T	C	8: 86,029,590 (GRCm39)		probably null	Het
Otogl	T	G	10: 107,710,394 (GRCm39)	E565A	possibly damaging	Het
Papss1	A	G	3: 131,290,899 (GRCm39)	Q214R	probably benign	Het
Pck2	G	A	14: 55,786,169 (GRCm39)	V653M	probably benign	Het
Plxna4	G	A	6: 32,192,113 (GRCm39)	Q826*	probably null	Het
Pms1	T	A	1: 53,295,889 (GRCm39)	T161S	probably benign	Het
Prkar2a	C	A	9: 108,617,669 (GRCm39)	N242K	probably damaging	Het
Prss1	T	A	6: 41,439,690 (GRCm39)	I141N	probably damaging	Het
Puf60	A	G	15: 75,943,717 (GRCm39)	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,437,252 (GRCm39)	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,447,898 (GRCm39)	E104G	unknown	Het
Rcn3	T	C	7: 44,734,333 (GRCm39)	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,137,560 (GRCm39)	W354S	probably damaging	Het
Rp1	T	C	1: 4,417,513 (GRCm39)	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,745,460 (GRCm39)	K603*	probably null	Het
Selenbp1	G	A	3: 94,851,745 (GRCm39)	V429I	possibly damaging	Het
Setd5	T	G	6: 113,098,099 (GRCm39)	S713A	probably benign	Het
Shank1	T	C	7: 44,002,564 (GRCm39)	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,422,830 (GRCm39)	W361L	possibly damaging	Het
Spta1	A	T	1: 174,050,837 (GRCm39)	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,661,721 (GRCm39)	H370R	probably damaging	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tango6	T	C	8: 107,415,791 (GRCm39)	V204A	probably benign	Het
Tdrd5	G	A	1: 156,129,293 (GRCm39)	A139V	probably damaging	Het
Tenm2	A	T	11: 36,062,263 (GRCm39)	V534E	probably damaging	Het
Tfip11	A	T	5: 112,479,044 (GRCm39)	Q204L	probably benign	Het
Tlr4	A	T	4: 66,759,430 (GRCm39)	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,638,654 (GRCm39)	M111V	probably benign	Het
Togaram1	A	G	12: 65,042,292 (GRCm39)	N1167S	probably benign	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,520,176 (GRCm39)	F7S	probably damaging	Het
Vinac1	A	G	2: 128,880,238 (GRCm39)	S563P		Het
Vmn1r212	T	A	13: 23,067,731 (GRCm39)	M201L	probably benign	Het
Xaf1	C	A	11: 72,194,201 (GRCm39)	C27*	probably null	Het
Zeb1	T	C	18: 5,767,703 (GRCm39)	V738A	probably benign	Het
Zfp524	A	T	7: 5,020,883 (GRCm39)	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,047,118 (GRCm39)	H367L	probably damaging	Het
Zim1	G	A	7: 6,680,872 (GRCm39)	Q264*	probably null	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
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
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'- GGAATCGGTTTTGCTTACTCCC -3'
(R):5'- GAAATCACTTGTCAATCAACCCTG -3'

Sequencing Primer
(F):5'- GTTTTGCTTACTCCCAAGAATTTTTC -3'
(R):5'- ACCCTGCTTCCTTAATTTTACTGAAG -3'

Posted On

2019-06-26