Incidental Mutation 'IGL00793:Kat2b'
ID12688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat2b
Ensembl Gene ENSMUSG00000000708
Gene NameK(lysine) acetyltransferase 2B
SynonymsPcaf, A930006P13Rik
Accession Numbers

Genbank: NM_020005

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00793
Quality Score
Status
Chromosome17
Chromosomal Location53566861-53672720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53665824 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 722 (N722S)
Ref Sequence ENSEMBL: ENSMUSP00000000724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000166525]
Predicted Effect probably benign
Transcript: ENSMUST00000000724
AA Change: N722S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708
AA Change: N722S

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000171072
SMART Domains Protein: ENSMUSP00000127807
Gene: ENSMUSG00000000708

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,397,406 D236G probably damaging Het
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Adam32 A T 8: 24,837,830 probably benign Het
Adm A G 7: 110,628,581 Y52C probably damaging Het
Aff4 A G 11: 53,411,990 T1097A probably damaging Het
Ccne1 A C 7: 38,106,301 V50G probably benign Het
Copb2 A G 9: 98,585,004 T636A probably benign Het
Cxadr C A 16: 78,334,227 Y210* probably null Het
Dnajc17 T C 2: 119,180,960 E163G probably benign Het
Dnmt3b T A 2: 153,672,502 M405K possibly damaging Het
Enpp7 A T 11: 118,990,545 N172I probably damaging Het
G2e3 T A 12: 51,367,762 S340T probably benign Het
Kcnh5 C A 12: 75,114,346 V263F probably damaging Het
Ldlrad1 A G 4: 107,217,889 D211G probably damaging Het
Lrp1 A G 10: 127,542,205 V4082A possibly damaging Het
Mycbp2 A T 14: 103,126,753 V4370D possibly damaging Het
Npsr1 G T 9: 24,254,693 R125L probably damaging Het
Osbpl9 T C 4: 109,087,431 I116V probably damaging Het
Parp4 G T 14: 56,602,877 A580S possibly damaging Het
Pfkm T C 15: 98,125,594 V391A probably benign Het
Psen1 T A 12: 83,723,018 S170T probably damaging Het
Rsbn1l C T 5: 20,896,155 V796I probably benign Het
Slc39a8 A G 3: 135,884,733 I396V probably benign Het
Spag16 T C 1: 70,299,650 C436R probably damaging Het
Stpg1 A G 4: 135,506,407 probably benign Het
Tmem57 A G 4: 134,828,206 S319P probably damaging Het
Tmem86b A G 7: 4,628,757 probably benign Het
Trf A G 9: 103,226,143 probably benign Het
Trim61 A T 8: 65,014,091 Y173N possibly damaging Het
Wrap73 T C 4: 154,152,639 S228P probably damaging Het
Zfc3h1 T C 10: 115,416,874 V1364A probably benign Het
Other mutations in Kat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Kat2b APN 17 53663623 missense possibly damaging 0.46
IGL01628:Kat2b APN 17 53610897 missense possibly damaging 0.89
IGL02494:Kat2b APN 17 53653205 missense probably damaging 1.00
IGL03347:Kat2b APN 17 53624351 critical splice acceptor site probably null
cakewalk UTSW 17 53638522 missense probably damaging 1.00
D605:Kat2b UTSW 17 53629330 missense probably damaging 1.00
R0060:Kat2b UTSW 17 53654543 missense probably damaging 1.00
R0225:Kat2b UTSW 17 53641210 missense probably damaging 1.00
R0372:Kat2b UTSW 17 53638537 missense possibly damaging 0.95
R0638:Kat2b UTSW 17 53644743 splice site probably benign
R0639:Kat2b UTSW 17 53567538 missense probably benign 0.38
R0780:Kat2b UTSW 17 53567448 missense unknown
R1240:Kat2b UTSW 17 53624397 missense probably benign 0.00
R2346:Kat2b UTSW 17 53610904 missense probably benign 0.07
R3402:Kat2b UTSW 17 53665853 missense probably damaging 1.00
R3776:Kat2b UTSW 17 53567581 splice site probably null
R4009:Kat2b UTSW 17 53644741 splice site probably null
R4011:Kat2b UTSW 17 53644741 splice site probably null
R4543:Kat2b UTSW 17 53653140 missense probably benign
R4598:Kat2b UTSW 17 53670798 missense probably benign 0.02
R4785:Kat2b UTSW 17 53653203 missense possibly damaging 0.81
R5079:Kat2b UTSW 17 53663638 missense probably damaging 1.00
R5475:Kat2b UTSW 17 53663581 missense probably damaging 1.00
R6993:Kat2b UTSW 17 53638522 missense probably damaging 1.00
R7047:Kat2b UTSW 17 53663569 missense probably benign 0.01
R7058:Kat2b UTSW 17 53665866 missense probably benign 0.00
R7199:Kat2b UTSW 17 53670678 missense probably damaging 1.00
R7276:Kat2b UTSW 17 53624422 missense probably damaging 1.00
R7418:Kat2b UTSW 17 53610925 missense possibly damaging 0.94
R7535:Kat2b UTSW 17 53624403 missense probably damaging 1.00
R7561:Kat2b UTSW 17 53641258 missense probably benign 0.22
R7723:Kat2b UTSW 17 53638387 missense possibly damaging 0.62
Posted On2012-12-06