Incidental Mutation 'R4009:Kat2b'
ID |
311623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kat2b
|
Ensembl Gene |
ENSMUSG00000000708 |
Gene Name |
K(lysine) acetyltransferase 2B |
Synonyms |
A930006P13Rik, Pcaf |
MMRRC Submission |
040846-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4009 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
53873889-53979748 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 53951769 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 null
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 null
Transcript: ENSMUST00000166525
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,980,933 (GRCm39) |
L35Q |
probably damaging |
Het |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,149,426 (GRCm39) |
D1464E |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,265,434 (GRCm39) |
S301P |
possibly damaging |
Het |
Cntln |
A |
G |
4: 84,981,452 (GRCm39) |
T877A |
probably benign |
Het |
Cntn6 |
T |
C |
6: 104,810,783 (GRCm39) |
I537T |
probably damaging |
Het |
Cyp2d12 |
T |
G |
15: 82,440,493 (GRCm39) |
L94R |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,564,164 (GRCm39) |
L1965P |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
Gna13 |
A |
G |
11: 109,286,843 (GRCm39) |
D222G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,472,683 (GRCm39) |
Y841N |
probably damaging |
Het |
Kcng4 |
A |
G |
8: 120,352,824 (GRCm39) |
V362A |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,959,448 (GRCm39) |
I334N |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,854,086 (GRCm39) |
S1222P |
probably benign |
Het |
Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
Or11g26 |
T |
C |
14: 50,753,419 (GRCm39) |
S253P |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Pik3cb |
A |
G |
9: 98,922,982 (GRCm39) |
Y1017H |
probably damaging |
Het |
Plpp5 |
A |
G |
8: 26,210,338 (GRCm39) |
E36G |
probably damaging |
Het |
Pnma8a |
A |
T |
7: 16,695,301 (GRCm39) |
K385N |
probably damaging |
Het |
Ptprd |
T |
G |
4: 75,874,634 (GRCm39) |
M1272L |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,052 (GRCm39) |
I325V |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,977,306 (GRCm39) |
V232A |
possibly damaging |
Het |
Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
Tcerg1 |
CAATTGAAAA |
CAA |
18: 42,697,201 (GRCm39) |
|
probably null |
Het |
Tenm3 |
C |
A |
8: 48,802,258 (GRCm39) |
K162N |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,380,987 (GRCm39) |
Q302L |
possibly damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
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 |
|
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'- AGGCAGTCATAGGATGGCTTTATG -3'
(R):5'- TGGCTTGTTTGTTACACAGC -3'
Sequencing Primer
(F):5'- ATGGTCTCACATGTCCTTGAG -3'
(R):5'- GCTTGTTTGTTACACAGCAGTACAC -3'
|
Posted On |
2015-04-29 |