Incidental Mutation 'R4629:Kat14'
ID 349006
Institutional Source Beutler Lab
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms D2Wsu131e, 2510008M08Rik, ATAC2, Csrp2bp, D2Ertd473e
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4629 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 144368983-144407676 bp(+) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to G at 144404220 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]
AlphaFold Q8CID0
Predicted Effect probably benign
Transcript: ENSMUST00000028911
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425

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 unknown
Transcript: ENSMUST00000125398
AA Change: N82D
SMART Domains Protein: ENSMUSP00000129716
Gene: ENSMUSG00000027425
AA Change: N82D

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 probably benign
Transcript: ENSMUST00000147747
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,279,351 (GRCm38) noncoding transcript Het
Abca6 T C 11: 110,230,549 (GRCm38) probably null Het
Adam22 A G 5: 8,232,663 (GRCm38) S111P possibly damaging Het
Adamts18 C T 8: 113,773,168 (GRCm38) W371* probably null Het
Akr1c13 G T 13: 4,197,870 (GRCm38) V214F probably damaging Het
Alg10b C T 15: 90,227,745 (GRCm38) A264V probably benign Het
Angpt1 T A 15: 42,438,400 (GRCm38) Y404F probably benign Het
Apol7c A G 15: 77,526,395 (GRCm38) F117S probably damaging Het
Asic5 T A 3: 82,006,504 (GRCm38) Y162N probably damaging Het
Cacna2d2 A T 9: 107,527,322 (GRCm38) E1104V probably damaging Het
Cad G A 5: 31,070,295 (GRCm38) V1263I probably damaging Het
Cdc20 T C 4: 118,433,564 (GRCm38) E413G probably damaging Het
Cfap46 A T 7: 139,680,927 (GRCm38) L85Q probably damaging Het
Cnot6l A G 5: 96,077,211 (GRCm38) V541A probably benign Het
Cubn T A 2: 13,313,979 (GRCm38) probably null Het
Cx3cr1 T C 9: 120,051,664 (GRCm38) N224S probably damaging Het
Fam98c T C 7: 29,155,268 (GRCm38) T49A possibly damaging Het
Fez2 C T 17: 78,402,754 (GRCm38) S202N probably benign Het
Fras1 A G 5: 96,776,734 (GRCm38) N3678S probably benign Het
Glyr1 A G 16: 5,037,043 (GRCm38) V57A possibly damaging Het
Gm5617 T A 9: 48,495,887 (GRCm38) L107Q possibly damaging Het
Gpnmb A G 6: 49,051,060 (GRCm38) D401G possibly damaging Het
Gtpbp6 C A 5: 110,106,908 (GRCm38) V100L possibly damaging Het
Gucy1a1 A G 3: 82,097,624 (GRCm38) V618A probably damaging Het
H6pd A T 4: 149,996,346 (GRCm38) M14K probably benign Het
Hectd4 A G 5: 121,297,203 (GRCm38) M993V probably benign Het
Kctd21 A G 7: 97,347,575 (GRCm38) D85G probably damaging Het
Kera A G 10: 97,609,631 (GRCm38) N284S probably benign Het
Krt1 C T 15: 101,846,187 (GRCm38) G543S unknown Het
Lama1 A G 17: 67,805,360 (GRCm38) probably null Het
Lgr6 T C 1: 135,104,932 (GRCm38) Y70C probably damaging Het
Lipg T A 18: 74,948,036 (GRCm38) K325* probably null Het
Lrrc43 T C 5: 123,499,520 (GRCm38) L250P probably damaging Het
Lyz1 C T 10: 117,291,136 (GRCm38) R65H probably benign Het
March10 T A 11: 105,389,838 (GRCm38) L540F probably benign Het
Maz G T 7: 127,025,347 (GRCm38) H334N possibly damaging Het
Myh1 A G 11: 67,209,293 (GRCm38) K646R probably benign Het
Nf2 A T 11: 4,848,915 (GRCm38) V24E probably damaging Het
Nup210l C T 3: 90,190,874 (GRCm38) R1378* probably null Het
Nup210l T C 3: 90,167,875 (GRCm38) S831P probably benign Het
Olfr45 T A 7: 140,691,378 (GRCm38) S158T probably benign Het
Orc5 G T 5: 22,548,005 (GRCm38) F10L probably benign Het
Palb2 A C 7: 122,127,966 (GRCm38) I227S possibly damaging Het
Pate3 A T 9: 35,646,157 (GRCm38) C68S probably damaging Het
Pcdha12 T A 18: 37,021,873 (GRCm38) N548K probably damaging Het
Prdm10 C T 9: 31,337,316 (GRCm38) Q345* probably null Het
Ptx4 A T 17: 25,122,763 (GRCm38) N71Y probably damaging Het
Rab42 C T 4: 132,303,237 (GRCm38) R34Q probably benign Het
Rergl A G 6: 139,501,852 (GRCm38) V8A probably damaging Het
Rmi1 A G 13: 58,409,136 (GRCm38) R400G probably benign Het
Rpia A G 6: 70,766,594 (GRCm38) M291T possibly damaging Het
Rplp0 G A 5: 115,561,423 (GRCm38) probably null Het
Rrp12 A T 19: 41,883,516 (GRCm38) I443N probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,579,908 (GRCm38) probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 (GRCm38) probably benign Het
Saxo1 T C 4: 86,487,827 (GRCm38) Y45C probably damaging Het
Sec24a A T 11: 51,721,813 (GRCm38) probably null Het
Setdb2 A G 14: 59,409,359 (GRCm38) V585A probably benign Het
Sik1 T C 17: 31,849,607 (GRCm38) E347G probably benign Het
Srbd1 T C 17: 86,120,672 (GRCm38) T378A probably damaging Het
Tacr1 A G 6: 82,403,880 (GRCm38) T91A probably benign Het
Tas2r135 T A 6: 42,406,226 (GRCm38) M233K probably benign Het
Tfg A T 16: 56,712,676 (GRCm38) M40K probably damaging Het
Tmem35b C T 4: 127,129,003 (GRCm38) P133S probably benign Het
Tmtc2 A T 10: 105,303,650 (GRCm38) S672T probably benign Het
Trpv3 A T 11: 73,281,789 (GRCm38) K253N probably damaging Het
Ube2c A G 2: 164,772,173 (GRCm38) N143S possibly damaging Het
Unc13a A G 8: 71,653,453 (GRCm38) M669T possibly damaging Het
Vmn1r61 T A 7: 5,611,250 (GRCm38) I22F probably benign Het
Vmn2r26 A T 6: 124,061,191 (GRCm38) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,267,442 (GRCm38) E156D probably damaging Het
Vwa3a T A 7: 120,793,375 (GRCm38) N812K probably benign Het
Wasl T C 6: 24,637,681 (GRCm38) R71G probably damaging Het
Wdfy4 A T 14: 33,102,558 (GRCm38) N1301K probably damaging Het
Zfp72 A G 13: 74,372,393 (GRCm38) C189R probably damaging Het
Zfp827 G A 8: 79,060,382 (GRCm38) R59Q probably damaging 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
IGL02625:Kat14 APN 2 144,402,445 (GRCm38) missense possibly damaging 0.79
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08