Incidental Mutation 'A5278:Kat14'
ID 61
Institutional Source Beutler Lab
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e
Accession Numbers

Genbank: NM_181417; MGI: 1917264

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # A5278 of strain 453
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 144368983-144407676 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 144393307 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 18 (S18*)
Ref Sequence ENSEMBL: ENSMUSP00000130785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]
AlphaFold Q8CID0
Predicted Effect probably null
Transcript: ENSMUST00000028911
AA Change: S229*
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: S229*

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
low complexity region 310 334 N/A INTRINSIC
Pfam:Acetyltransf_10 640 748 7e-12 PFAM
Pfam:Acetyltransf_7 670 750 5.8e-12 PFAM
Pfam:Acetyltransf_1 675 749 7.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143318
Predicted Effect probably null
Transcript: ENSMUST00000147747
AA Change: S18*
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: S18*

DomainStartEndE-ValueType
low complexity region 99 123 N/A INTRINSIC
Pfam:Acetyltransf_10 428 537 6.3e-12 PFAM
Pfam:Acetyltransf_7 458 539 5.7e-12 PFAM
Pfam:Acetyltransf_1 464 538 3.1e-12 PFAM
Pfam:FR47 479 544 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156410
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 88.2%
  • 3x: 73.8%
Validation Efficiency 87% (116/134)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling. Mice heterozygous for one targeted allele exhibit corneal opacity. [provided by MGI curators]
Allele List at MGI

All alleles(54) : Targeted, other(1) Gene trapped(53)

Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Kif17 T C 4: 138,287,950 V278A probably benign Homo
Myo3a A G 2: 22,323,653 T353A probably benign Het
Pbk T A 14: 65,813,939 I142N probably damaging Het
Rab32 A G 10: 10,557,973 I39T possibly damaging Het
Rhou G T 8: 123,660,991 C154F probably damaging Het
Slc4a1 A G 11: 102,353,815 probably benign Het
Tdrd7 C T 4: 46,007,622 T558M probably benign Homo
Other mutations in Kat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Kat14 APN 2 144394255 missense probably benign 0.01
IGL01361:Kat14 APN 2 144406620 splice site probably null
IGL01958:Kat14 APN 2 144394365 missense probably damaging 1.00
IGL02499:Kat14 APN 2 144393831 missense probably benign 0.45
IGL02625:Kat14 APN 2 144402445 missense possibly damaging 0.79
IGL02814:Kat14 APN 2 144402463 missense probably benign
IGL02883:Kat14 APN 2 144393529 missense probably damaging 1.00
IGL03114:Kat14 APN 2 144375965 critical splice donor site probably null
R1446:Kat14 UTSW 2 144373718 missense probably damaging 1.00
R1517:Kat14 UTSW 2 144373791 missense probably benign 0.00
R1589:Kat14 UTSW 2 144394100 missense probably benign 0.06
R2071:Kat14 UTSW 2 144389216 missense probably damaging 1.00
R3911:Kat14 UTSW 2 144404062 missense probably damaging 1.00
R3951:Kat14 UTSW 2 144407329 utr 3 prime probably benign
R4167:Kat14 UTSW 2 144394110 missense probably damaging 1.00
R4624:Kat14 UTSW 2 144404220 intron probably benign
R4628:Kat14 UTSW 2 144404220 intron probably benign
R4629:Kat14 UTSW 2 144404220 intron probably benign
R4944:Kat14 UTSW 2 144375953 missense probably damaging 0.99
R5401:Kat14 UTSW 2 144389260 missense possibly damaging 0.77
R5429:Kat14 UTSW 2 144393323 missense probably benign 0.03
R7165:Kat14 UTSW 2 144393998 missense probably benign 0.03
R7453:Kat14 UTSW 2 144380734 missense possibly damaging 0.85
R7738:Kat14 UTSW 2 144394242 missense probably damaging 1.00
R9130:Kat14 UTSW 2 144373822 missense probably benign 0.30
R9260:Kat14 UTSW 2 144393521 missense probably benign 0.02
X0018:Kat14 UTSW 2 144373857 critical splice donor site probably null
Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to A transversion at position 1215 of the Csrp2bp transcript in exon 6 of 11 total exons.  Two transcripts of Csrp2bp gene are displayed on Ensembl. The mutated nucleotide causes a premature stop codon at amino acid 229 (normally a serine) of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
The Csrp2bp gene encodes a 779 protein that is an N-acteyltransferase and a component of the ADA2A-containing complex (ATAC).  The ATAC complex has histone acetyltransferase activity on histones H3 and H4, and contains several interacting subunits.  The CSRP2BP protein may function as a scaffold to promote ATAC complex stability, and also has weak histone acetyltransferase activity toward histone H4. CSRP2BP binds to the LIM-1 domain protein CSRP2, and is required for the normal progression through G1 and G2/M phases of the cell cycle (Uniprot Q8CID0). Mice homozygous for a null allele of Csrp2bp exhibit embryonic lethality during organogenesis, decreased size, increased apoptosis, and disrupted cell cycling.
 
The Turteltaube mutation in Csrp2bp introduces a premature stop at codon 229, which would remove more than half of the protein including the N-acetyltransferase domain.
Posted On 2009-12-03