Incidental Mutation 'IGL02625:Kat14'
ID 301035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02625
Quality Score
Chromosome 2
Chromosomal Location 144368983-144407676 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144402445 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 406 (R406H)
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: R617H

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: R617H

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

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

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 possibly damaging
Transcript: ENSMUST00000147747
AA Change: R406H

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: R406H

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,746,347 (GRCm38) C109S probably damaging Het
Arhgdia C A 11: 120,580,213 (GRCm38) E53D probably benign Het
Ccr4 A C 9: 114,492,333 (GRCm38) C221W probably damaging Het
Ces2a G A 8: 104,740,278 (GRCm38) probably null Het
Chpf2 G T 5: 24,591,711 (GRCm38) E552* probably null Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 (GRCm38) R207H probably benign Het
Dock2 A G 11: 34,501,168 (GRCm38) probably null Het
Esr1 A T 10: 5,001,346 (GRCm38) T575S probably benign Het
Fancc A G 13: 63,398,151 (GRCm38) C93R probably damaging Het
Foxj3 A T 4: 119,624,917 (GRCm38) R523W unknown Het
Fryl C T 5: 73,069,877 (GRCm38) probably benign Het
Fsip2 A C 2: 82,949,492 (GRCm38) H194P probably benign Het
Gaa G A 11: 119,274,733 (GRCm38) V350I probably damaging Het
Gpn3 T A 5: 122,381,194 (GRCm38) I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 (GRCm38) H136L probably benign Het
Hist4h4 C T 6: 136,804,337 (GRCm38) probably benign Het
Hspg2 A G 4: 137,512,642 (GRCm38) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm38) E728G probably benign Het
Kcnma1 G T 14: 23,363,832 (GRCm38) D863E probably damaging Het
Lrp1 A G 10: 127,574,486 (GRCm38) Y1464H probably damaging Het
Map4 T C 9: 110,064,417 (GRCm38) S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 (GRCm38) L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 (GRCm38) I506M probably benign Het
Nudt17 G A 3: 96,706,464 (GRCm38) R266W probably damaging Het
Or4a47 A G 2: 89,835,396 (GRCm38) L183P probably damaging Het
Or4a69 A G 2: 89,482,674 (GRCm38) S154P probably damaging Het
Or52h9 A G 7: 104,553,573 (GRCm38) Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 (GRCm38) E529G probably benign Het
Prss32 A T 17: 23,856,236 (GRCm38) I187F possibly damaging Het
Prss55 A T 14: 64,079,369 (GRCm38) I108K probably damaging Het
Rcl1 A G 19: 29,118,341 (GRCm38) M109V probably benign Het
Rho A T 6: 115,935,197 (GRCm38) M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 (GRCm38) D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 (GRCm38) probably null Het
Stx11 T A 10: 12,941,917 (GRCm38) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm38) Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 (GRCm38) probably benign Het
Tcf12 C A 9: 71,922,757 (GRCm38) G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 (GRCm38) M296T probably damaging Het
Trim13 T A 14: 61,605,550 (GRCm38) S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 (GRCm38) K133E possibly damaging Het
Usp40 A G 1: 87,950,017 (GRCm38) V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 (GRCm38) N240T probably damaging Het
Wdr36 T C 18: 32,859,261 (GRCm38) V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 (GRCm38) N7I probably damaging Het
Wdr6 T C 9: 108,575,505 (GRCm38) Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 (GRCm38) probably benign Het
Other mutations in Kat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Kat14 APN 2 144,394,255 (GRCm38) missense probably benign 0.01
IGL01361:Kat14 APN 2 144,406,620 (GRCm38) splice site probably null
IGL01958:Kat14 APN 2 144,394,365 (GRCm38) missense probably damaging 1.00
IGL02499:Kat14 APN 2 144,393,831 (GRCm38) missense probably benign 0.45
IGL02814:Kat14 APN 2 144,402,463 (GRCm38) missense probably benign
IGL02883:Kat14 APN 2 144,393,529 (GRCm38) missense probably damaging 1.00
IGL03114:Kat14 APN 2 144,375,965 (GRCm38) critical splice donor site probably null
A5278:Kat14 UTSW 2 144,393,307 (GRCm38) nonsense probably null
R1446:Kat14 UTSW 2 144,373,718 (GRCm38) missense probably damaging 1.00
R1517:Kat14 UTSW 2 144,373,791 (GRCm38) missense probably benign 0.00
R1589:Kat14 UTSW 2 144,394,100 (GRCm38) missense probably benign 0.06
R2071:Kat14 UTSW 2 144,389,216 (GRCm38) missense probably damaging 1.00
R3911:Kat14 UTSW 2 144,404,062 (GRCm38) missense probably damaging 1.00
R3951:Kat14 UTSW 2 144,407,329 (GRCm38) utr 3 prime probably benign
R4167:Kat14 UTSW 2 144,394,110 (GRCm38) missense probably damaging 1.00
R4624:Kat14 UTSW 2 144,404,220 (GRCm38) intron probably benign
R4628:Kat14 UTSW 2 144,404,220 (GRCm38) intron probably benign
R4629:Kat14 UTSW 2 144,404,220 (GRCm38) intron probably benign
R4944:Kat14 UTSW 2 144,375,953 (GRCm38) missense probably damaging 0.99
R5401:Kat14 UTSW 2 144,389,260 (GRCm38) missense possibly damaging 0.77
R5429:Kat14 UTSW 2 144,393,323 (GRCm38) missense probably benign 0.03
R7165:Kat14 UTSW 2 144,393,998 (GRCm38) missense probably benign 0.03
R7453:Kat14 UTSW 2 144,380,734 (GRCm38) missense possibly damaging 0.85
R7738:Kat14 UTSW 2 144,394,242 (GRCm38) missense probably damaging 1.00
R9130:Kat14 UTSW 2 144,373,822 (GRCm38) missense probably benign 0.30
R9260:Kat14 UTSW 2 144,393,521 (GRCm38) missense probably benign 0.02
R9450:Kat14 UTSW 2 144,400,819 (GRCm38) missense possibly damaging 0.94
R9457:Kat14 UTSW 2 144,373,782 (GRCm38) missense probably benign 0.02
R9480:Kat14 UTSW 2 144,373,825 (GRCm38) missense probably damaging 1.00
R9502:Kat14 UTSW 2 144,393,607 (GRCm38) missense probably damaging 1.00
X0018:Kat14 UTSW 2 144,373,857 (GRCm38) critical splice donor site probably null
Posted On 2015-04-16