Incidental Mutation 'R5734:Kat8'
ID 451590
Institutional Source Beutler Lab
Gene Symbol Kat8
Ensembl Gene ENSMUSG00000030801
Gene Name K(lysine) acetyltransferase 8
Synonyms 2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF
MMRRC Submission 043348-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5734 (G1)
Quality Score 103
Status Validated
Chromosome 7
Chromosomal Location 127511689-127525010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127519751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 225 (F225S)
Ref Sequence ENSEMBL: ENSMUSP00000033070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033070] [ENSMUST00000205357]
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: ENSMUST00000033070
AA Change: F225S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: F225S

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 noncoding transcript
Transcript: ENSMUST00000206071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206364
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
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
4931429L15Rik A G 9: 46,215,303 (GRCm39) probably benign Het
Abcc9 A G 6: 142,571,457 (GRCm39) probably benign Het
Adamts2 G A 11: 50,679,494 (GRCm39) G825R probably damaging Het
Adgre1 A T 17: 57,750,990 (GRCm39) R555W probably benign Het
Apob T A 12: 8,038,781 (GRCm39) V398D probably damaging Het
Arid4b A G 13: 14,334,856 (GRCm39) N355S probably benign Het
Asb3 G T 11: 30,979,021 (GRCm39) D143Y probably damaging Het
Birc6 G A 17: 74,925,419 (GRCm39) probably benign Het
Cacna1a A G 8: 85,310,360 (GRCm39) M1425V probably damaging Het
Capn9 A G 8: 125,332,583 (GRCm39) E474G probably damaging Het
Capza2 T C 6: 17,660,764 (GRCm39) S155P probably damaging Het
Ccdc125 A G 13: 100,823,622 (GRCm39) N202S possibly damaging Het
Ccn1 A G 3: 145,354,023 (GRCm39) C256R probably damaging Het
Chrm5 T A 2: 112,310,445 (GRCm39) T224S probably benign Het
Chtop C T 3: 90,409,422 (GRCm39) probably null Het
Clip1 T C 5: 123,753,217 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,604 (GRCm39) T14A possibly damaging Het
Dcaf8 T C 1: 172,000,478 (GRCm39) V212A possibly damaging Het
Fam114a1 T C 5: 65,166,389 (GRCm39) M240T probably damaging Het
Fat1 T C 8: 45,504,246 (GRCm39) Y4580H probably damaging Het
Glipr1 G A 10: 111,821,698 (GRCm39) R200* probably null Het
Gm6408 A T 5: 146,419,192 (GRCm39) Y69F probably benign Het
Gpt2 T C 8: 86,249,885 (GRCm39) S456P probably benign Het
Lactb2 T A 1: 13,730,611 (GRCm39) N22Y probably damaging Het
Lin28a A T 4: 133,735,284 (GRCm39) C67* probably null Het
Mtarc2 T C 1: 184,564,786 (GRCm39) E155G probably benign Het
Myoz3 G A 18: 60,712,543 (GRCm39) T104M possibly damaging Het
Nek9 C T 12: 85,350,289 (GRCm39) M928I probably benign Het
Nlrp9a G C 7: 26,270,065 (GRCm39) A831P probably damaging Het
Nop53 T C 7: 15,679,887 (GRCm39) probably null Het
Ofcc1 T A 13: 40,241,325 (GRCm39) T728S probably damaging Het
Pabpc4l T A 3: 46,401,124 (GRCm39) probably null Het
Rbm34 T C 8: 127,696,880 (GRCm39) probably null Het
Relch T C 1: 105,631,608 (GRCm39) probably benign Het
Robo2 C T 16: 74,149,672 (GRCm39) C52Y probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Scn2a A G 2: 65,548,066 (GRCm39) Y57C possibly damaging Het
Selp C T 1: 163,971,460 (GRCm39) probably benign Het
Skp2 T C 15: 9,139,566 (GRCm39) D43G possibly damaging Het
Smad5 T A 13: 56,871,617 (GRCm39) S71T probably damaging Het
Sorcs1 G T 19: 50,171,213 (GRCm39) H892N probably benign Het
Sox6 C T 7: 115,140,856 (GRCm39) probably null Het
St3gal1 A T 15: 66,978,522 (GRCm39) I333N probably damaging Het
Tex15 C A 8: 34,036,364 (GRCm39) Q97K probably benign Het
Tnxb A T 17: 34,917,884 (GRCm39) T2266S possibly damaging Het
Tpbgl C A 7: 99,274,949 (GRCm39) G303C probably damaging Het
Trat1 A T 16: 48,555,304 (GRCm39) S143T possibly damaging Het
Trpm8 T A 1: 88,283,002 (GRCm39) V763E probably benign Het
Ttc21a G A 9: 119,795,732 (GRCm39) D1189N probably benign Het
Usp7 T C 16: 8,519,845 (GRCm39) N178D possibly damaging Het
Zfp217 T C 2: 169,961,064 (GRCm39) D421G possibly damaging Het
Zfp382 T C 7: 29,833,855 (GRCm39) F502S probably damaging 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
R5723: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
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'- TTGTTCCTAATGAGCTCTGAGC -3'
(R):5'- GGACTATGTAGCTGAGGATAACCC -3'

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