Incidental Mutation 'R0780:Kat2b'
| ID |
76596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat2b
|
| Ensembl Gene |
ENSMUSG00000000708 |
| Gene Name |
K(lysine) acetyltransferase 2B |
| Synonyms |
A930006P13Rik, Pcaf |
| MMRRC Submission |
038960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0780 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
53873889-53979748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53874476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 40
(V40E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000724]
|
| AlphaFold |
Q9JHD1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000000724
AA Change: V40E
|
| SMART Domains |
Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: V40E
| 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 |
noncoding transcript
Transcript: ENSMUST00000163648
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
C |
T |
5: 137,288,794 (GRCm39) |
R167C |
probably damaging |
Het |
| Ahsa1 |
T |
C |
12: 87,315,102 (GRCm39) |
I85T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,966,322 (GRCm39) |
L1030S |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,569,604 (GRCm39) |
K222E |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,577 (GRCm39) |
F635L |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,461,424 (GRCm39) |
T701M |
probably damaging |
Het |
| Cxcr2 |
T |
A |
1: 74,198,334 (GRCm39) |
M276K |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,993,824 (GRCm39) |
I409K |
unknown |
Het |
| Dnah10 |
G |
T |
5: 124,827,876 (GRCm39) |
G741W |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,036,608 (GRCm39) |
|
probably null |
Het |
| Ifi208 |
A |
G |
1: 173,510,262 (GRCm39) |
D139G |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,760,738 (GRCm39) |
P871T |
unknown |
Het |
| Lats2 |
A |
T |
14: 57,928,753 (GRCm39) |
Y1041N |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,206,947 (GRCm39) |
T486I |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,502,266 (GRCm39) |
D773E |
probably benign |
Het |
| Ptgds |
A |
G |
2: 25,358,104 (GRCm39) |
F143S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,800 (GRCm39) |
S1129G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,467,035 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,337,273 (GRCm39) |
V1248A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,307,092 (GRCm39) |
H1562Q |
probably benign |
Het |
| Uba3 |
G |
A |
6: 97,163,666 (GRCm39) |
R294* |
probably null |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,933 (GRCm39) |
V219E |
probably damaging |
Het |
| Zfand6 |
T |
A |
7: 84,265,042 (GRCm39) |
I220F |
probably 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 |
|
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 |
|
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'- TCCCGCTAGGGTGGAGGAAGTT -3'
(R):5'- CCAGTGAGATGCTGTGCAAGCC -3'
Sequencing Primer
(F):5'- CTAGCGTCCTAGCCGCC -3'
(R):5'- GAACGCAGCACTTCCGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation