Incidental Mutation 'R3911:Kat14'
ID 309363
Institutional Source Beutler Lab
Gene Symbol Kat14
Ensembl Gene ENSMUSG00000027425
Gene Name lysine acetyltransferase 14
Synonyms Csrp2bp, 2510008M08Rik, ATAC2, D2Ertd473e, D2Wsu131e
MMRRC Submission 040909-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3911 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 144210952-144249595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144245982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 469 (V469A)
Ref Sequence ENSEMBL: ENSMUSP00000130785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028911] [ENSMUST00000147747]
AlphaFold Q8CID0
Predicted Effect possibly damaging
Transcript: ENSMUST00000028911
AA Change: V680A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028911
Gene: ENSMUSG00000027425
AA Change: V680A

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: V29A
SMART Domains Protein: ENSMUSP00000129716
Gene: ENSMUSG00000027425
AA Change: V29A

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 damaging
Transcript: ENSMUST00000147747
AA Change: V469A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130785
Gene: ENSMUSG00000027425
AA Change: V469A

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
Meta Mutation Damage Score 0.7623 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T A 5: 124,227,909 (GRCm39) I111F probably benign Het
Abcc12 A C 8: 87,255,048 (GRCm39) probably benign Het
Adgre1 G T 17: 57,754,860 (GRCm39) V653L probably damaging Het
Aebp2 T A 6: 140,593,707 (GRCm39) D230E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Bod1l T C 5: 41,974,441 (GRCm39) E2291G probably damaging Het
Casp8 A T 1: 58,872,864 (GRCm39) S267C probably damaging Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cd2ap T A 17: 43,126,980 (GRCm39) probably null Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clip1 T A 5: 123,728,897 (GRCm39) E1155D probably damaging Het
Cnnm2 A G 19: 46,866,375 (GRCm39) E841G probably damaging Het
Cntrl G A 2: 35,010,061 (GRCm39) R245H probably damaging Het
Cyp2b23 A T 7: 26,380,842 (GRCm39) S128T probably benign Het
Dhrs11 A T 11: 84,712,579 (GRCm39) I196N probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Edc3 A T 9: 57,655,686 (GRCm39) I479F possibly damaging Het
Emg1 T A 6: 124,682,009 (GRCm39) M172L probably benign Het
Epha7 G A 4: 28,938,680 (GRCm39) V512I probably benign Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Fasl C A 1: 161,615,760 (GRCm39) C32F probably benign Het
Flg A T 3: 93,187,307 (GRCm39) H253L probably benign Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gm17067 T A 7: 42,360,104 (GRCm39) I43L possibly damaging Het
Gpld1 A G 13: 25,146,305 (GRCm39) Y183C probably damaging Het
Gpr137c C A 14: 45,516,392 (GRCm39) P327T probably benign Het
Hepacam2 A G 6: 3,494,477 (GRCm39) M1T probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Iqca1l A T 5: 24,750,440 (GRCm39) probably benign Het
Itgb8 T A 12: 119,131,740 (GRCm39) E635V possibly damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl18 A T 9: 110,265,151 (GRCm39) L285Q probably damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Krtap4-8 A T 11: 99,670,863 (GRCm39) C203S unknown Het
Lsp1 C T 7: 142,040,098 (GRCm39) S75F probably damaging Het
Map1b A G 13: 99,567,580 (GRCm39) S1714P unknown Het
Mcm2 A G 6: 88,865,234 (GRCm39) I481T probably damaging Het
Mcpt9 T C 14: 56,265,136 (GRCm39) T122A probably benign Het
Megf10 A T 18: 57,422,465 (GRCm39) R947W probably damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Or51ai2 A T 7: 103,586,616 (GRCm39) N10Y possibly damaging Het
Pank4 A G 4: 155,054,058 (GRCm39) Y79C probably damaging Het
Pds5b T A 5: 150,670,171 (GRCm39) N386K probably benign Het
Pfkm A G 15: 98,022,928 (GRCm39) M362V probably benign Het
Phc2 T C 4: 128,637,351 (GRCm39) probably null Het
Pou4f1 C T 14: 104,703,611 (GRCm39) A274T unknown Het
Proc A G 18: 32,256,758 (GRCm39) L303P probably damaging Het
Ptk2b C T 14: 66,394,517 (GRCm39) G821D possibly damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Serpinb6c T C 13: 34,077,888 (GRCm39) N161D probably benign Het
Sf3b1 G A 1: 55,058,548 (GRCm39) Q14* probably null Het
Sh3d19 G A 3: 86,014,534 (GRCm39) V442M possibly damaging Het
Slc30a8 A G 15: 52,185,097 (GRCm39) I140V probably benign Het
Spata1 T A 3: 146,181,079 (GRCm39) N293I probably damaging Het
Strap T G 6: 137,712,380 (GRCm39) C10G probably damaging Het
Tcf7 C A 11: 52,173,793 (GRCm39) probably benign Het
Tmem114 A T 16: 8,230,054 (GRCm39) M116K probably damaging Het
Tmem63b A G 17: 45,988,884 (GRCm39) S113P probably damaging Het
Tmtc3 A C 10: 100,284,888 (GRCm39) N582K probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Tns2 T C 15: 102,022,272 (GRCm39) probably null Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Ush2a T A 1: 188,132,151 (GRCm39) V791D probably benign Het
Vmn2r99 T C 17: 19,614,635 (GRCm39) F785S possibly damaging Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Wdr35 A T 12: 9,036,077 (GRCm39) I283F probably benign Het
Wnt10b G T 15: 98,672,219 (GRCm39) A166E 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17