Incidental Mutation 'R7723:Kat2b'
| ID |
595363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat2b
|
| Ensembl Gene |
ENSMUSG00000000708 |
| Gene Name |
K(lysine) acetyltransferase 2B |
| Synonyms |
A930006P13Rik, Pcaf |
| MMRRC Submission |
045779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53873889-53979748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53945415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 278
(D278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000724]
[ENSMUST00000164390]
|
| AlphaFold |
Q9JHD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000724
AA Change: D278G
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: D278G
| 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 damaging
Transcript: ENSMUST00000164390
AA Change: D200G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127659
Gene: ENSMUSG00000000708
AA Change: D200G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCAF_N
|
1 |
210 |
6e-122 |
PFAM |
|
| Meta Mutation Damage Score |
0.8711 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
C |
T |
1: 146,577,409 (GRCm39) |
T148I |
probably damaging |
Het |
| C1qa |
A |
T |
4: 136,623,744 (GRCm39) |
C153* |
probably null |
Het |
| Camkk1 |
G |
T |
11: 72,928,058 (GRCm39) |
R363L |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,946,798 (GRCm39) |
|
probably null |
Het |
| Cenpu |
T |
C |
8: 47,029,349 (GRCm39) |
S351P |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,741,837 (GRCm39) |
L1609F |
unknown |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,016,154 (GRCm39) |
I4F |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,475,236 (GRCm39) |
V93A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,499,786 (GRCm39) |
M785L |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,223,954 (GRCm39) |
C598* |
probably null |
Het |
| Fer |
T |
C |
17: 64,203,273 (GRCm39) |
S68P |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,279,158 (GRCm39) |
T22I |
probably benign |
Het |
| Kdm1a |
C |
T |
4: 136,285,060 (GRCm39) |
V520I |
probably benign |
Het |
| Lrrc4c |
G |
T |
2: 97,460,999 (GRCm39) |
V542L |
possibly damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,427 (GRCm39) |
T247A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,717 (GRCm39) |
S4929G |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,822,324 (GRCm39) |
H428Q |
possibly damaging |
Het |
| Mink1 |
C |
G |
11: 70,503,736 (GRCm39) |
Q1183E |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,687,141 (GRCm39) |
P82L |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,320,784 (GRCm39) |
T102A |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,486,375 (GRCm39) |
I230T |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,965,347 (GRCm39) |
T1644S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5j |
A |
T |
9: 39,867,920 (GRCm39) |
Y104N |
possibly damaging |
Het |
| Or13p10 |
A |
G |
4: 118,522,914 (GRCm39) |
S67G |
probably benign |
Het |
| Or2at4 |
A |
G |
7: 99,384,884 (GRCm39) |
Y178C |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,358 (GRCm39) |
L104* |
probably null |
Het |
| Or5d44 |
A |
C |
2: 88,141,819 (GRCm39) |
V107G |
possibly damaging |
Het |
| Palld |
C |
T |
8: 62,164,492 (GRCm39) |
V400I |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,258 (GRCm39) |
V261A |
probably damaging |
Het |
| Pcdhb3 |
C |
A |
18: 37,435,565 (GRCm39) |
N510K |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,325 (GRCm39) |
Y79N |
probably damaging |
Het |
| Phc2 |
C |
T |
4: 128,616,882 (GRCm39) |
A385V |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,785,942 (GRCm39) |
T771A |
possibly damaging |
Het |
| Psmb6 |
T |
C |
11: 70,417,396 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,639 (GRCm39) |
T487A |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,298 (GRCm39) |
M595K |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,752 (GRCm39) |
V14D |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,693 (GRCm39) |
S203* |
probably null |
Het |
| Serinc1 |
G |
A |
10: 57,403,918 (GRCm39) |
P15L |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,995,103 (GRCm39) |
I93T |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,795 (GRCm39) |
I619F |
probably damaging |
Het |
| Snx25 |
A |
C |
8: 46,491,516 (GRCm39) |
V858G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,441,572 (GRCm39) |
C1903Y |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,867 (GRCm39) |
I156N |
probably benign |
Het |
| Tasp1 |
G |
T |
2: 139,827,051 (GRCm39) |
T189K |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,851 (GRCm39) |
M1399K |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,278,232 (GRCm39) |
C1092F |
probably damaging |
Het |
| Tmem150a |
G |
A |
6: 72,336,057 (GRCm39) |
V215I |
probably damaging |
Het |
| Tmem176b |
C |
T |
6: 48,812,869 (GRCm39) |
V109I |
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,321 (GRCm39) |
I69K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,638,419 (GRCm39) |
L13954I |
probably damaging |
Het |
| Veph1 |
C |
A |
3: 66,113,093 (GRCm39) |
C237F |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 20,832,119 (GRCm39) |
T107I |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,458,567 (GRCm39) |
M300I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,673 (GRCm39) |
D1089G |
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 |
|
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 |
|
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'- AAGAGGCCAACAGGTCTACC -3'
(R):5'- AGCACCACCCCTTACTTTGG -3'
Sequencing Primer
(F):5'- GAAGGTCTCGTTTCTTCCACTGAG -3'
(R):5'- CTTTGGGAAATGTGTGAGGATAAGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation