Incidental Mutation 'IGL02814:Kat14'
ID 360734
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 # IGL02814
Quality Score
Status
Chromosome 2
Chromosomal Location 144210952-144249595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144244383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 412 (S412N)
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: S623N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: S623N

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 probably benign
Transcript: ENSMUST00000125398
SMART Domains Protein: ENSMUSP00000129716
Gene: ENSMUSG00000027425

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 20 83 1e-7 PFAM
Pfam:Acetyltransf_1 25 78 3.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130654
Predicted Effect probably benign
Transcript: ENSMUST00000139812
SMART Domains Protein: ENSMUSP00000128694
Gene: ENSMUSG00000027425

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 2 64 7.1e-10 PFAM
Pfam:Acetyltransf_1 3 65 2.8e-11 PFAM
Pfam:Acetyltransf_7 3 66 3.4e-11 PFAM
Pfam:FR47 7 73 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147747
AA Change: S412N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: S412N

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 noncoding transcript
Transcript: ENSMUST00000148500
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Capn8 C A 1: 182,426,336 (GRCm39) L224M probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Dctn1 C A 6: 83,166,896 (GRCm39) A152E probably damaging Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gjb5 C T 4: 127,249,355 (GRCm39) R263Q probably benign Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm15b T C 9: 106,762,975 (GRCm39) I398V probably benign Het
Rbm28 T C 6: 29,159,725 (GRCm39) E101G probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K possibly damaging 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
IGL02499:Kat14 APN 2 144,235,751 (GRCm39) missense probably benign 0.45
IGL02625:Kat14 APN 2 144,244,365 (GRCm39) missense possibly damaging 0.79
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 2015-12-18