Incidental Mutation 'R5102:Kat8'
ID 392425
Institutional Source Beutler Lab
Gene Symbol Kat8
Ensembl Gene ENSMUSG00000030801
Gene Name K(lysine) acetyltransferase 8
Synonyms 2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF
MMRRC Submission 042690-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5102 (G1)
Quality Score 225
Status Not 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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C T 1: 58,279,937 (GRCm39) R518C probably damaging Het
Apbb2 A T 5: 66,469,592 (GRCm39) probably null Het
Arhgap45 C T 10: 79,857,262 (GRCm39) P254S probably benign Het
Arl4c T C 1: 88,629,322 (GRCm39) D22G probably damaging Het
Asxl1 A G 2: 153,242,875 (GRCm39) T1142A probably benign Het
BC035044 T C 6: 128,861,949 (GRCm39) probably benign Het
Bmp4 T C 14: 46,621,458 (GRCm39) N362S probably damaging Het
Cbll1 G T 12: 31,537,912 (GRCm39) T280N probably damaging Het
Cdh10 A T 15: 18,986,971 (GRCm39) T401S probably benign Het
Cmklr2 A G 1: 63,222,326 (GRCm39) V303A probably damaging Het
Cps1 A T 1: 67,245,952 (GRCm39) M1148L probably benign Het
Crybg1 T C 10: 43,873,832 (GRCm39) D1092G probably damaging Het
Cyth2 A G 7: 45,460,126 (GRCm39) S173P probably damaging Het
D6Ertd527e A T 6: 87,088,793 (GRCm39) I319F unknown Het
Dchs1 A T 7: 105,421,384 (GRCm39) H345Q probably benign Het
Ddx50 A T 10: 62,476,640 (GRCm39) V211E probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnajb5 G A 4: 42,956,639 (GRCm39) D109N possibly damaging Het
Dner A T 1: 84,383,691 (GRCm39) N564K probably damaging Het
Fam234b T C 6: 135,186,282 (GRCm39) S97P probably benign Het
Fam53b G A 7: 132,317,684 (GRCm39) R60* probably null Het
Fmo3 T G 1: 162,791,546 (GRCm39) K244Q probably benign Het
Golim4 A G 3: 75,810,579 (GRCm39) I192T possibly damaging Het
Gprin1 T C 13: 54,887,576 (GRCm39) M233V probably benign Het
Gtf2f1 A T 17: 57,310,626 (GRCm39) V443D probably damaging Het
Hmgcs2 T C 3: 98,187,786 (GRCm39) probably benign Het
Ide T A 19: 37,292,383 (GRCm39) I271L unknown Het
Kif14 A G 1: 136,444,141 (GRCm39) I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lhx6 T C 2: 35,984,222 (GRCm39) probably null Het
Lrp2 C T 2: 69,319,502 (GRCm39) G2007D probably damaging Het
Lrp5 T C 19: 3,709,304 (GRCm39) K142R probably damaging Het
Macroh2a1 C G 13: 56,243,936 (GRCm39) probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Mtrfr A G 5: 124,476,954 (GRCm39) N83D probably damaging Het
Nacad T A 11: 6,548,528 (GRCm39) D1402V probably damaging Het
Ndfip2 T C 14: 105,535,539 (GRCm39) I275T possibly damaging Het
Neb A C 2: 52,116,582 (GRCm39) V4131G possibly damaging Het
Nfe2l1 G A 11: 96,712,934 (GRCm39) A83V probably damaging Het
Nos3 A G 5: 24,576,625 (GRCm39) D418G probably damaging Het
Or12e7 A T 2: 87,288,138 (GRCm39) M210L probably benign Het
Or1n1b T A 2: 36,780,056 (GRCm39) K268M possibly damaging Het
Plcd4 A G 1: 74,604,313 (GRCm39) T764A probably damaging Het
Plppr3 G T 10: 79,701,220 (GRCm39) P541T possibly damaging Het
Polr2a A G 11: 69,637,771 (GRCm39) I191T possibly damaging Het
Pramel18 T C 4: 101,766,436 (GRCm39) F40S probably damaging Het
Rab11fip1 T C 8: 27,646,402 (GRCm39) K225E probably damaging Het
Rara A T 11: 98,857,185 (GRCm39) Q64L possibly damaging Het
Rtkn G A 6: 83,126,754 (GRCm39) V305M probably damaging Het
Sh2b1 A C 7: 126,070,408 (GRCm39) F399V probably benign Het
Slc7a4 T C 16: 17,393,482 (GRCm39) T106A probably damaging Het
Srcap G A 7: 127,129,795 (GRCm39) G539D probably damaging Het
Stab1 C T 14: 30,869,974 (GRCm39) probably null Het
Zfp267 G A 3: 36,216,814 (GRCm39) C55Y possibly 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
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
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'- ACAACGTGGCCTGCATCTTG -3'
(R):5'- CTTTAGGGTTCCAAGCGATCC -3'

Sequencing Primer
(F):5'- GGCCTGCATCTTGACCCTG -3'
(R):5'- AGGGTTCCAAGCGATCCTTCAC -3'
Posted On 2016-06-15