Incidental Mutation 'IGL00473:Kat2b'
| ID |
3835 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kat2b
|
| Ensembl Gene |
ENSMUSG00000000708 |
| Gene Name |
K(lysine) acetyltransferase 2B |
| Synonyms |
A930006P13Rik, Pcaf |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
53873889-53979748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53970651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 679
(I679S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000724]
[ENSMUST00000166525]
|
| AlphaFold |
Q9JHD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000724
AA Change: I679S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: I679S
| 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: ENSMUST00000166525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167092
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171072
AA Change: I89S
|
| SMART Domains |
Protein: ENSMUSP00000127807
Gene: ENSMUSG00000000708
AA Change: I89S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172160
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
| Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
| C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
| Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
| Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
| Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
| Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
| Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
| Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
| Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,229 (GRCm39) |
E52G |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
| Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
| Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
| Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
| Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
Het |
|
| Other mutations in Kat2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation