Incidental Mutation 'IGL02499:Kat14'
ID 295962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02499
Quality Score
Status
Chromosome 2
Chromosomal Location 144210952-144249595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144235751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 161 (E161G)
Ref Sequence ENSEMBL: ENSMUSP00000130785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]
AlphaFold Q8CID0
Predicted Effect probably benign
Transcript: ENSMUST00000028911
AA Change: E372G

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: E372G

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 benign
Transcript: ENSMUST00000147747
AA Change: E161G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: E161G

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
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Abr A T 11: 76,399,916 (GRCm39) F27Y probably benign Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Bdh1 G T 16: 31,256,866 (GRCm39) R5L possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cd209e T A 8: 3,904,238 (GRCm39) M6L probably benign Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mki67 A G 7: 135,296,056 (GRCm39) S2993P possibly damaging Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Sqor T A 2: 122,650,007 (GRCm39) M417K possibly damaging Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) probably benign Het
Other mutations in Kat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Kat14 APN 2 144,236,175 (GRCm39) missense probably benign 0.01
IGL01361:Kat14 APN 2 144,248,540 (GRCm39) splice site probably null
IGL01958:Kat14 APN 2 144,236,285 (GRCm39) missense probably damaging 1.00
IGL02625:Kat14 APN 2 144,244,365 (GRCm39) missense possibly damaging 0.79
IGL02814:Kat14 APN 2 144,244,383 (GRCm39) missense probably benign
IGL02883:Kat14 APN 2 144,235,449 (GRCm39) missense probably damaging 1.00
IGL03114:Kat14 APN 2 144,217,885 (GRCm39) critical splice donor site probably null
A5278:Kat14 UTSW 2 144,235,227 (GRCm39) nonsense probably null
R1446:Kat14 UTSW 2 144,215,638 (GRCm39) missense probably damaging 1.00
R1517:Kat14 UTSW 2 144,215,711 (GRCm39) missense probably benign 0.00
R1589:Kat14 UTSW 2 144,236,020 (GRCm39) missense probably benign 0.06
R2071:Kat14 UTSW 2 144,231,136 (GRCm39) missense probably damaging 1.00
R3911:Kat14 UTSW 2 144,245,982 (GRCm39) missense probably damaging 1.00
R3951:Kat14 UTSW 2 144,249,249 (GRCm39) utr 3 prime probably benign
R4167:Kat14 UTSW 2 144,236,030 (GRCm39) missense probably damaging 1.00
R4624:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4628:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4629:Kat14 UTSW 2 144,246,140 (GRCm39) intron probably benign
R4944:Kat14 UTSW 2 144,217,873 (GRCm39) missense probably damaging 0.99
R5401:Kat14 UTSW 2 144,231,180 (GRCm39) missense possibly damaging 0.77
R5429:Kat14 UTSW 2 144,235,243 (GRCm39) missense probably benign 0.03
R7165:Kat14 UTSW 2 144,235,918 (GRCm39) missense probably benign 0.03
R7453:Kat14 UTSW 2 144,222,654 (GRCm39) missense possibly damaging 0.85
R7738:Kat14 UTSW 2 144,236,162 (GRCm39) missense probably damaging 1.00
R9130:Kat14 UTSW 2 144,215,742 (GRCm39) missense probably benign 0.30
R9260:Kat14 UTSW 2 144,235,441 (GRCm39) missense probably benign 0.02
R9450:Kat14 UTSW 2 144,242,739 (GRCm39) missense possibly damaging 0.94
R9457:Kat14 UTSW 2 144,215,702 (GRCm39) missense probably benign 0.02
R9480:Kat14 UTSW 2 144,215,745 (GRCm39) missense probably damaging 1.00
R9502:Kat14 UTSW 2 144,235,527 (GRCm39) missense probably damaging 1.00
X0018:Kat14 UTSW 2 144,215,777 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16