Incidental Mutation 'R8277:Kat2b'
| ID |
638042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat2b
|
| Ensembl Gene |
ENSMUSG00000000708 |
| Gene Name |
K(lysine) acetyltransferase 2B |
| Synonyms |
A930006P13Rik, Pcaf |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53873889-53979748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53948281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 350
(D350E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000724]
[ENSMUST00000164390]
[ENSMUST00000166525]
|
| AlphaFold |
Q9JHD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000724
AA Change: D350E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: D350E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166525
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
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 |
|
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 |
|
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'- CCGCAGATGCTGTGAGTTACTG -3'
(R):5'- CAGATACCAGACTTACAGGCTCTAG -3'
Sequencing Primer
(F):5'- CCTGAGGACATTGTATTGCAGTC -3'
(R):5'- CAGACTTACAGGCTCTAGACATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation