Incidental Mutation 'IGL03347:Kat2b'
ID419537
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 #IGL03347
Quality Score
Status
Chromosome17
Chromosomal Location53566861-53672720 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to A at 53624351 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390]
Predicted Effect probably null
Transcript: ENSMUST00000000724
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708

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 noncoding transcript
Transcript: ENSMUST00000163648
Predicted Effect probably null
Transcript: ENSMUST00000164390
SMART Domains Protein: ENSMUSP00000127659
Gene: ENSMUSG00000000708

DomainStartEndE-ValueType
Pfam:PCAF_N 1 210 6e-122 PFAM
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,959,238 S670T possibly damaging Het
Adamts9 G T 6: 92,887,432 Y185* probably null Het
Arid3a T A 10: 79,951,279 S512R possibly damaging Het
Atf6b T C 17: 34,653,240 V524A probably damaging Het
B230118H07Rik A G 2: 101,583,519 probably null Het
Camk2d A G 3: 126,796,901 T254A probably damaging Het
Camsap2 G T 1: 136,280,986 Q923K possibly damaging Het
Car10 G A 11: 93,100,296 probably benign Het
Ccdc39 A G 3: 33,837,843 L160P probably damaging Het
Cdh7 A T 1: 110,138,243 D749V possibly damaging Het
Cox6a2 A T 7: 128,205,728 probably benign Het
Cpne1 A T 2: 156,079,176 Y65N probably damaging Het
Dnm1 T C 2: 32,353,187 D8G probably benign Het
Emsy A G 7: 98,610,685 S140P probably damaging Het
Fam13b G A 18: 34,462,051 probably benign Het
Fbn2 T C 18: 58,013,665 R2720G probably damaging Het
Fkbpl A G 17: 34,646,313 probably benign Het
Gm4737 A G 16: 46,154,489 V175A probably benign Het
Gpr179 A G 11: 97,351,838 L60P probably damaging Het
Igsf10 A T 3: 59,331,900 S287T possibly damaging Het
Kazald1 A G 19: 45,078,416 D218G possibly damaging Het
Mbtd1 A G 11: 93,923,179 E216G probably benign Het
Mtmr9 C A 14: 63,543,567 V25L probably benign Het
Myo16 A G 8: 10,376,120 probably null Het
Nfkbil1 A T 17: 35,220,583 V318E probably damaging Het
Olfr1009 T C 2: 85,721,807 V134A probably benign Het
Olfr697 A T 7: 106,740,970 probably benign Het
Pidd1 A G 7: 141,439,168 V800A probably damaging Het
Ptprs G A 17: 56,435,972 S390L probably benign Het
Ralgapb G A 2: 158,465,960 V729I possibly damaging Het
Sfrp5 T A 19: 42,198,768 M288L probably benign Het
Slc26a1 C A 5: 108,673,810 G71V probably damaging Het
Srcin1 A T 11: 97,525,344 S1021T probably damaging Het
Supt6 A T 11: 78,232,185 M124K possibly damaging Het
Thada A G 17: 84,398,205 F1157S probably damaging Het
Tmcc2 A G 1: 132,357,652 S424P probably damaging Het
Trim37 G A 11: 87,201,621 R752Q possibly damaging Het
Unc80 A T 1: 66,695,466 Q238L probably damaging Het
Vmn2r23 C A 6: 123,704,374 H80Q probably benign Het
Wnt9a A T 11: 59,330,914 T213S probably damaging Het
Zfp953 T A 13: 67,343,426 Q154L probably benign Het
Other mutations in Kat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Kat2b APN 17 53663623 missense possibly damaging 0.46
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
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 On2016-08-02