Incidental Mutation 'R5723:Kat8'
ID 452327
Institutional Source Beutler Lab
Gene Symbol Kat8
Ensembl Gene ENSMUSG00000030801
Gene Name K(lysine) acetyltransferase 8
Synonyms 2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF
MMRRC Submission 043341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5723 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127511689-127525010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127523988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 343 (E343K)
Ref Sequence ENSEMBL: ENSMUSP00000033070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032988] [ENSMUST00000033070] [ENSMUST00000205357] [ENSMUST00000206124] [ENSMUST00000206568]
AlphaFold Q9D1P2
PDB Structure Solution Structure of the Tudor Domain from Mouse Hypothetical Protein Homologous to Histone Acetyltransferase [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000032988
SMART Domains Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Tryp_SPc 44 281 3.55e-98 SMART
low complexity region 320 338 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000033070
AA Change: E343K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: E343K

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
CHROMO 69 123 6.6e-8 SMART
Blast:PHD 177 214 4e-6 BLAST
Pfam:MOZ_SAS 235 412 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205357
Predicted Effect probably benign
Transcript: ENSMUST00000206124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206364
Predicted Effect probably benign
Transcript: ENSMUST00000206568
Meta Mutation Damage Score 0.8881 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele die prior to gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,445 (GRCm39) D862G possibly damaging Het
Abcg2 C T 6: 58,655,336 (GRCm39) Q109* probably null Het
Acbd7 A G 2: 3,341,455 (GRCm39) Y33C probably damaging Het
Actl7a A G 4: 56,744,310 (GRCm39) D279G probably damaging Het
Akr1c18 A T 13: 4,194,328 (GRCm39) Y110* probably null Het
Akt1 T C 12: 112,623,704 (GRCm39) K276E probably damaging Het
Bcas2 A G 3: 103,084,608 (GRCm39) probably benign Het
C9 T A 15: 6,516,297 (GRCm39) Y367N probably damaging Het
Cd163 A G 6: 124,296,022 (GRCm39) T789A probably benign Het
Cers6 T A 2: 68,938,789 (GRCm39) S344T probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Crisp3 A C 17: 40,546,804 (GRCm39) V38G probably damaging Het
Cyp2b23 A G 7: 26,380,821 (GRCm39) F135L probably benign Het
Cyrib A T 15: 63,828,447 (GRCm39) probably null Het
Ddr2 A T 1: 169,816,089 (GRCm39) C539* probably null Het
Efna5 T A 17: 62,914,458 (GRCm39) D189V probably damaging Het
Endov G T 11: 119,390,675 (GRCm39) V70F probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem3 A T 8: 81,340,026 (GRCm39) H773L probably benign Het
Gm43302 T A 5: 105,365,352 (GRCm39) Q552L possibly damaging Het
Gramd1a A T 7: 30,833,908 (GRCm39) W506R probably damaging Het
Hmcn1 C T 1: 150,570,600 (GRCm39) V2188I possibly damaging Het
Ifit1bl2 A G 19: 34,597,458 (GRCm39) F53L probably benign Het
Kif5a GGGTTGGT GGGT 10: 127,066,898 (GRCm39) probably null Het
Krt16 A G 11: 100,139,272 (GRCm39) Y149H probably damaging Het
Krtap5-2 A T 7: 141,728,742 (GRCm39) C313S unknown Het
Mreg A G 1: 72,201,527 (GRCm39) I155T probably damaging Het
Nans T C 4: 46,499,083 (GRCm39) F130S probably benign Het
Nox4 T C 7: 86,954,181 (GRCm39) probably benign Het
Or3a1d C A 11: 74,237,954 (GRCm39) W32L possibly damaging Het
Or52ad1 A T 7: 102,995,826 (GRCm39) M103K possibly damaging Het
Or56a3 C A 7: 104,740,309 (GRCm39) C179F probably damaging Het
Or5k15 A T 16: 58,709,976 (GRCm39) Y202* probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pkd1 A G 17: 24,784,497 (GRCm39) T348A probably benign Het
Poteg T C 8: 27,940,020 (GRCm39) probably null Het
Prom1 T G 5: 44,172,236 (GRCm39) N585T probably benign Het
Rfc1 T C 5: 65,434,769 (GRCm39) S666G probably null Het
Rilp A G 11: 75,403,687 (GRCm39) probably benign Het
Serpina3i A G 12: 104,231,759 (GRCm39) E132G probably benign Het
Serpina3m T C 12: 104,360,170 (GRCm39) V414A probably damaging Het
Sfrp4 T C 13: 19,807,868 (GRCm39) F89S probably damaging Het
Stat5a A G 11: 100,772,900 (GRCm39) H692R probably benign Het
Tex29 A T 8: 11,904,279 (GRCm39) probably benign Het
Tmc5 T A 7: 118,271,416 (GRCm39) F910I probably damaging Het
Tusc3 G A 8: 39,538,651 (GRCm39) G230D possibly damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Upb1 A T 10: 75,264,105 (GRCm39) I184F probably damaging Het
Vamp4 T C 1: 162,401,932 (GRCm39) F5L possibly damaging Het
Zfp583 C A 7: 6,326,674 (GRCm39) Q68H probably damaging Het
Zfp831 A C 2: 174,487,200 (GRCm39) H625P probably benign Het
Zfp941 G A 7: 140,392,763 (GRCm39) probably benign Het
Other mutations in Kat8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Kat8 APN 7 127,519,676 (GRCm39) missense probably damaging 1.00
R0853:Kat8 UTSW 7 127,524,396 (GRCm39) missense probably benign 0.12
R1293:Kat8 UTSW 7 127,521,422 (GRCm39) critical splice donor site probably null
R1926:Kat8 UTSW 7 127,514,467 (GRCm39) nonsense probably null
R3824:Kat8 UTSW 7 127,523,654 (GRCm39) missense possibly damaging 0.56
R4841:Kat8 UTSW 7 127,524,366 (GRCm39) missense probably benign 0.11
R4892:Kat8 UTSW 7 127,514,710 (GRCm39) missense possibly damaging 0.68
R5102:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R5104:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R5722:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R5724:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R5734:Kat8 UTSW 7 127,519,751 (GRCm39) missense probably benign 0.00
R5820:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R5821:Kat8 UTSW 7 127,523,988 (GRCm39) missense probably damaging 1.00
R7059:Kat8 UTSW 7 127,524,075 (GRCm39) missense probably benign
R7158:Kat8 UTSW 7 127,521,331 (GRCm39) missense probably benign
R8263:Kat8 UTSW 7 127,523,653 (GRCm39) missense possibly damaging 0.94
R8941:Kat8 UTSW 7 127,524,400 (GRCm39) missense probably damaging 0.99
R9173:Kat8 UTSW 7 127,511,863 (GRCm39) missense probably benign
R9424:Kat8 UTSW 7 127,524,100 (GRCm39) missense probably benign 0.34
R9452:Kat8 UTSW 7 127,524,421 (GRCm39) missense probably benign 0.00
X0027:Kat8 UTSW 7 127,524,430 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AAACAACGTGGCCTGCATC -3'
(R):5'- TAGGGTTCCAAGCGATCCTTC -3'

Sequencing Primer
(F):5'- AACGTGGCCTGCATCTTGAC -3'
(R):5'- TTCACAAAGTCCCCAGTGG -3'
Posted On 2017-01-03