Incidental Mutation 'R3824:Kat8'
ID 275281
Institutional Source Beutler Lab
Gene Symbol Kat8
Ensembl Gene ENSMUSG00000030801
Gene Name K(lysine) acetyltransferase 8
Synonyms 5830450F21Rik, 2010203C02Rik, Myst1, MOF, D7Ertd629e
MMRRC Submission 040885-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3824 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127912516-127925837 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127924482 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 292 (D292E)
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 possibly damaging
Transcript: ENSMUST00000033070
AA Change: D292E

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: D292E

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (62/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,611 C20R probably benign Het
6030468B19Rik A G 11: 117,802,913 K69E probably damaging Het
9430015G10Rik T A 4: 156,119,150 probably null Het
A2ml1 A G 6: 128,568,763 V467A probably damaging Het
Abcc3 T C 11: 94,368,620 probably null Het
Acad10 A T 5: 121,622,818 M941K probably benign Het
Agrn A G 4: 156,169,302 L1649P probably damaging Het
Arhgap12 T C 18: 6,061,930 R402G possibly damaging Het
Atp4b T C 8: 13,393,549 Y43C probably damaging Het
Btn2a2 T A 13: 23,480,465 T308S probably benign Het
C8b G T 4: 104,783,009 A170S probably benign Het
Cabyr T A 18: 12,751,690 D411E probably benign Het
Capn3 T C 2: 120,484,483 probably benign Het
Cd200r4 T C 16: 44,820,950 F19L probably benign Het
Cflar T A 1: 58,735,697 Y218N probably benign Het
Col11a2 T C 17: 34,054,180 Y630H probably damaging Het
Coq6 T C 12: 84,372,415 probably benign Het
Drg2 A G 11: 60,459,508 T98A possibly damaging Het
Fam205c A G 4: 42,873,492 probably null Het
Fry T A 5: 150,496,419 S1015R possibly damaging Het
Gjb4 A G 4: 127,351,429 S240P probably benign Het
Glmp G A 3: 88,326,411 V107I probably damaging Het
Gls A C 1: 52,232,988 M2R possibly damaging Het
Gm13078 A T 4: 143,726,685 H121L probably benign Het
Gm5724 T C 6: 141,754,374 Q144R possibly damaging Het
Gm906 G A 13: 50,245,512 S926F possibly damaging Het
Igfbp4 A G 11: 99,048,235 E27G probably damaging Het
Ints8 A T 4: 11,225,621 Y645* probably null Het
Kat6a G T 8: 22,862,364 V55F probably damaging Het
Myo19 T A 11: 84,885,679 C54S probably damaging Het
Myo5b C T 18: 74,661,655 H532Y probably benign Het
Nckap1 T C 2: 80,540,560 K357E possibly damaging Het
Ndufaf1 C T 2: 119,660,271 V105M probably benign Het
Olfr1076 T G 2: 86,509,023 L188R possibly damaging Het
Olfr1394 A G 11: 49,160,793 S260G possibly damaging Het
Olfr888 A T 9: 38,108,838 I51F possibly damaging Het
Olfr895 T G 9: 38,268,518 S2A probably benign Het
Olfr904 T A 9: 38,464,526 C162S probably benign Het
Palld T C 8: 61,709,033 D439G probably damaging Het
Pcf11 T C 7: 92,659,620 probably benign Het
Pigo A T 4: 43,020,909 W678R possibly damaging Het
Pip5kl1 A T 2: 32,583,271 probably null Het
Plscr3 G A 11: 69,850,138 V267M probably benign Het
Prom2 A G 2: 127,535,673 probably benign Het
Ptk7 A G 17: 46,565,378 I1049T probably damaging Het
Ptprb A T 10: 116,350,789 I1743F probably benign Het
Ptprm A G 17: 66,809,575 V894A probably benign Het
Rack1 A G 11: 48,802,304 T105A probably benign Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Sdk1 A G 5: 141,936,049 T267A probably benign Het
Sorcs3 T A 19: 48,722,956 D653E probably damaging Het
St8sia1 A G 6: 142,829,025 L276P probably damaging Het
Sync T C 4: 129,294,363 V396A possibly damaging Het
Taok3 A G 5: 117,255,937 T592A probably benign Het
Tas2r104 T A 6: 131,685,039 I236F possibly damaging Het
Tas2r107 A C 6: 131,659,330 I252S probably benign Het
Tmem259 T C 10: 79,978,448 N334S possibly damaging Het
Tsga10 A T 1: 37,834,197 N200K possibly damaging Het
Usp24 G A 4: 106,379,066 V984I probably benign Het
Vmn1r189 T A 13: 22,102,212 T152S probably benign Het
Vmn1r2 A T 4: 3,172,413 T111S probably damaging Het
Vmn2r74 T G 7: 85,958,258 N86H probably damaging Het
Zfp12 T C 5: 143,240,322 V72A probably benign Het
Other mutations in Kat8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Kat8 APN 7 127920504 missense probably damaging 1.00
R0853:Kat8 UTSW 7 127925224 missense probably benign 0.12
R1293:Kat8 UTSW 7 127922250 critical splice donor site probably null
R1926:Kat8 UTSW 7 127915295 nonsense probably null
R4841:Kat8 UTSW 7 127925194 missense probably benign 0.11
R4892:Kat8 UTSW 7 127915538 missense possibly damaging 0.68
R5102:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5104:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5722:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5723:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5724:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5734:Kat8 UTSW 7 127920579 missense probably benign 0.00
R5820:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R5821:Kat8 UTSW 7 127924816 missense probably damaging 1.00
R7059:Kat8 UTSW 7 127924903 missense probably benign
R7158:Kat8 UTSW 7 127922159 missense probably benign
R8263:Kat8 UTSW 7 127924481 missense possibly damaging 0.94
R8941:Kat8 UTSW 7 127925228 missense probably damaging 0.99
R9173:Kat8 UTSW 7 127912691 missense probably benign
R9424:Kat8 UTSW 7 127924928 missense probably benign 0.34
R9452:Kat8 UTSW 7 127925249 missense probably benign 0.00
X0027:Kat8 UTSW 7 127925258 splice site probably null
Predicted Primers PCR Primer
(F):5'- TTAGAGGGCTGCAGAGTAGC -3'
(R):5'- CTACTCACTGAAGGCGATGAG -3'

Sequencing Primer
(F):5'- TGCAGAGTAGCCACCGG -3'
(R):5'- CTCACTGAAGGCGATGAGAAACTTC -3'
Posted On 2015-04-02