Incidental Mutation 'IGL00473:Kat2b'
ID3835
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 #IGL00473
Quality Score
Status
Chromosome17
Chromosomal Location53566861-53672720 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 53663623 bp
ZygosityHeterozygous
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]
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

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 unknown
Transcript: ENSMUST00000171072
AA Change: I89S
SMART Domains Protein: ENSMUSP00000127807
Gene: ENSMUSG00000000708
AA Change: I89S

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik C T 4: 35,213,616 G178E possibly damaging Het
Arcn1 A G 9: 44,757,147 V264A probably benign Het
Asap1 T C 15: 64,173,215 probably benign Het
Brpf1 A C 6: 113,316,684 Q571H probably damaging Het
Creb3 G T 4: 43,565,517 R232L probably benign Het
Cst10 G T 2: 149,405,373 S3I unknown Het
Cyp4a14 A G 4: 115,489,952 probably benign Het
Daxx C T 17: 33,911,607 Q199* probably null Het
Eml5 A G 12: 98,805,492 probably benign Het
Gbp6 T A 5: 105,274,279 K520* probably null Het
Gcfc2 T A 6: 81,944,374 C454S probably damaging Het
Gm9894 T A 13: 67,765,117 noncoding transcript Het
Gpr15 C T 16: 58,718,078 C216Y probably damaging Het
Gzmn T C 14: 56,166,979 K134E probably benign Het
Klhl10 A G 11: 100,456,414 Y478C probably damaging Het
Mapt A G 11: 104,287,183 D54G probably damaging Het
Mocs1 A G 17: 49,433,201 E52G probably benign Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Prdm6 T A 18: 53,540,285 F172L probably benign Het
Prl7b1 A T 13: 27,604,590 V94D probably damaging Het
Rasal2 T C 1: 157,147,817 T1116A probably benign Het
Rreb1 A T 13: 37,930,791 K709* probably null Het
Ruvbl1 A T 6: 88,491,568 R357W probably damaging Het
Slc4a5 T C 6: 83,296,597 L973P probably damaging Het
Srp72 A G 5: 76,984,176 Y234C probably damaging Het
Synrg G A 11: 84,039,246 M1070I probably damaging Het
Zan A T 5: 137,464,250 I889K possibly damaging Het
Zbtb40 G A 4: 136,987,340 T1046M probably damaging Het
Zfp978 A G 4: 147,390,860 N288S probably benign Het
Zfpm2 A T 15: 41,099,287 K247M probably damaging Het
Other mutations in Kat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Kat2b APN 17 53665824 missense probably benign 0.00
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 On2012-04-20